57 results on '"Yukio Ando"'
Search Results
2. Impact of baseline polyneuropathy severity on patisiran treatment outcomes in the APOLLO trial
- Author
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Dianna Quan, Laura Obici, John L. Berk, Yukio Ando, Emre Aldinc, Matthew T. White, and David Adams
- Subjects
Internal Medicine - Abstract
Assess how baseline polyneuropathy severity impacts response to patisiran regarding neurologic impairment and quality of life (QOL) in patients with hereditary transthyretin-mediated amyloidosis (ATTRv amyloidosis). This post hoc analysis grouped patients from the Phase 3 APOLLO study (n = 225) by baseline Neuropathy Impairment Score (NIS) into quartiles: 6–
- Published
- 2022
3. Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis
- Author
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Yukio Ando, David Adams, Merrill D. Benson, John L. Berk, Violaine Planté-Bordeneuve, Teresa Coelho, Isabel Conceição, Bo-Göran Ericzon, Laura Obici, Claudio Rapezzi, Yoshiki Sekijima, Mitsuharu Ueda, Giovanni Palladini, and Giampaolo Merlini
- Subjects
Amyloid Neuropathies, Familial ,Internal Medicine ,Humans ,Prealbumin ,Cardiomyopathies ,Liver Transplantation - Abstract
The recent approval of three drugs for the treatment of amyloid transthyretin (ATTR) amyloidosis, both hereditary and wild-type, has opened a new era in the care of these diseases. ATTR amyloidosis is embedded in its pathophysiology, and the drugs target critical steps of the amyloid cascade. In addition to liver transplant, which removes the pathogenic variants, the introduction of gene silencers has allowed the suppression of both wild type and mutant transthyretin (TTR), thus extending the potential therapeutic range to wild-type cardiac amyloidosis. The kinetic stabilisation of TTR using small molecules has proved to be clinically effective both for amyloid neuropathy and cardiomyopathy. Gene silencers and kinetic stabilizers were recently approved on the basis of the outcome of phase III trials; however, comparative trials have not been performed, making it difficult to draw recommendations. Indications for liver transplantation have narrowed considerably. Here, guidelines for therapy are proposed based on expert consensus, acknowledging that the several drugs currently undergoing clinical trials will probably change in the near future the therapeutic armamentarium and, consequently, the therapeutic strategy. Indications for monitoring disease progression and drug efficacy are also provided for the management of these complexes, but now very treatable, diseases.
- Published
- 2022
4. Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in Japan
- Author
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Teruaki Masuda, Yukio Ando, Mitsuharu Ueda, Yohei Misumi, and Taro Yamashita
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Pathology ,Amyloid ,Late onset ,Disease ,03 medical and health sciences ,0302 clinical medicine ,Japan ,Epidemiology ,Internal Medicine ,Humans ,Prealbumin ,Medicine ,Family history ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,nutritional and metabolic diseases ,medicine.disease ,Penetrance ,Transthyretin ,030104 developmental biology ,Mutation ,biology.protein ,business ,030217 neurology & neurosurgery - Abstract
Hereditary transthyretin (ATTRm) amyloidosis, formerly known as familial amyloid polyneuropathy, is a major type of hereditary systemic amyloidosis, in which the disease is caused by mutant transthyretin (TTR). Although more than 140 different point mutations have been identified in the TTR gene, ATTRm amyloidosis patients with the TTR Val30Met mutation are most frequently found worldwide. Interestingly, the onset age of the ATTR Val30Met amyloidosis is highly varied among countries and regions. The reason for these differences in onset age and penetrance remains to be elucidated. We recently performed an epidemiological study to analyze the clinical and genetic characteristics of ATTRm amyloidosis patients in Japan. Our results led us to the following questions: Why did most of the non-endemic patients with the same TTR Val30Met mutation not have a family history of the disease, a typical autosomal dominant hereditary disorder? Why does ATTR Val30Met amyloidosis alone demonstrate foci of occurrence? Why is only this type of ATTRm amyloidosis nationally and globally distributed? In this mini-review, we discuss these unanswered questions based on recent genetic epidemiological studies on ATTR Val30Met amyloidosis.
- Published
- 2018
5. Introduction
- Author
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Yukio Ando, Mitsuharu Ueda, and Hirofumi Jono
- Subjects
Internal Medicine - Published
- 2019
6. Clarification on the definition of complete haematologic response in light-chain (AL) amyloidosis
- Author
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Angela Dispenzieri, Per Westermark, Ute Hegenbart, Shaji Kumar, Vaishali Sanchorawala, Stefan Schönland, Giampaolo Merlini, Ashutosh D. Wechalekar, Yukio Ando, Giovanni Palladini, and Paolo Milani
- Subjects
medicine.medical_specialty ,business.industry ,Amyloidosis ,education ,030204 cardiovascular system & hematology ,medicine.disease ,Immunoglobulin light chain ,Dermatology ,Response to treatment ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,medicine ,AL amyloidosis ,Humans ,Immunoglobulin Light-chain Amyloidosis ,business ,030217 neurology & neurosurgery - Abstract
In 2012, the International Society of Amyloidosis (ISA) established the criteria for assessment of haematologic response to treatment in light chain (AL) amyloidosis [1]. The criteria were identifi...
- Published
- 2021
7. First nationwide survey on systemic wild-type ATTR amyloidosis in Japan
- Author
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Yoshiki Sekijima, Masahito Yamada, Yukio Ando, Haruki Koike, Mitsuharu Ueda, and Masahide Yazaki
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Amyloid ,030204 cardiovascular system & hematology ,Nationwide survey ,03 medical and health sciences ,0302 clinical medicine ,Japan ,Surveys and Questionnaires ,Internal Medicine ,Humans ,Medicine ,Age of Onset ,Aged ,Aged, 80 and over ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,Wild type ,Middle Aged ,medicine.disease ,Transthyretin ,biology.protein ,Female ,business ,030217 neurology & neurosurgery ,Attr amyloidosis - Abstract
A nationwide survey on systemic wild-type ATTR (ATTRwt) amyloidosis was conducted to elucidate the frequency, clinical picture and possible diagnostic issues of ATTRwt amyloidosis in Japan.A questionnaire was sent to 4629 clinical departments across Japan. A total of 2341 (50.6%) responses were returned completed for further analysis.Fifty-one patients with ATTRwt amyloidosis (82% male) were identified between January 2012 and December 2014. The study subjects were identified in 11 departments at 10 institutes. The mean age of onset and diagnosis were 71.6 and 73.6 years, respectively. The main clinical findings were cardiac failure (76%), cardiac conduction defects/arrhythmia (59%), renal dysfunction (49%), carpal tunnel syndrome (45%) and spinal canal stenosis (22%).ATTRwt amyloidosis is diagnosed in a limited number of institutes in Japan and is therefore considered to be underdiagnosed.
- Published
- 2017
8. Knee osteoarthritis associated with different kinds of amyloid deposits and the impact of aging on type of amyloid
- Author
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Akihiro Yanagisawa, Masayoshi Tasaki, Yumiko Kinoshita, Genki Suenaga, Taro Yamashita, Hiroshi Mizuta, Per Westermark, Yukio Ando, Mitsuharu Ueda, Hiroaki Motokawa, Eiichi Nakamura, Yohei Misumi, Takanao Sueyoshi, Mitsuru Sakaguchi, and Risa Toyoshima
- Subjects
Cartilage, Articular ,Male ,musculoskeletal diseases ,0301 basic medicine ,Aging ,Amyloid ,Pathology ,medicine.medical_specialty ,Knee Joint ,Apolipoprotein B ,Osteoarthritis ,Meniscus (anatomy) ,03 medical and health sciences ,0302 clinical medicine ,Synovial Fluid ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Aged ,Aged, 80 and over ,Apolipoprotein A-I ,biology ,business.industry ,Amyloidosis ,Osteoarthritis, Knee ,musculoskeletal system ,medicine.disease ,Transthyretin ,030104 developmental biology ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,biology.protein ,Female ,Synovial membrane ,business ,human activities - Abstract
Amyloidosis is a protein conformational disorder in which amyloid fibrils accumulate in the extracellular space and induce organ dysfunction. Recently, two different amyloidogenic proteins, transthyretin (TTR) and apolipoprotein A-I (Apo A-I), were identified in amyloid deposits in knee joints in patients with knee osteoarthritis (OA). However, clinicopathological differences related to those two kinds of amyloid deposits in the knee joint remain to be clarified. Here, we investigated the clinicopathological features related to these knee amyloid deposits associated with knee OA and the biochemical characteristics of the amyloid deposits. We found that all of our patients with knee OA had amyloid deposits in the knee joints, especially in the meniscus, and those deposits were primarily derived from TTR and/or Apo A-I. Some patients with knee OA, however, had unclassified amyloid deposits. One of our interesting observations concerned the different effects of aging on each type of amyloid formed. The frequency of formation of ATTR deposits clearly increased with age, but that of AApo A-I deposits decreased. Furthermore, we found that ∼16% of patients with knee OA developed ATTR/AApo A-I double deposits in the meniscus. Amyloid deposition may therefore be a common histopathological feature associated with knee OA. Also, aging may induce ATTR formation in the knee joint in elderly patients with knee OA, whereas AApo A-I formation may be inversely correlated with age.
- Published
- 2015
9. AL amyloidosis diagnosed using anti-IGLL5 antibody: a case report
- Author
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Akinori Nishikawa, Yoshiaki Furuya, Yukio Ando, Ken Tanaka, Takayuki Hiroi, Suguru Takeuchi, Masaharu Nohgawa, Taro Yamashita, Shogo Murata, Toshiki Mushino, Takashi Sonoki, Takehiro Oiwa, Yusuke Yamashita, Hiroki Hosoi, Hiroyuki Hata, Hiroshi Kobata, Yoshikazu Hori, and Shinobu Tamura
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Amyloid ,biology ,medicine.diagnostic_test ,business.industry ,Biopsy ,Plaque, Amyloid ,Urine ,Middle Aged ,Immunoglobulin light chain ,medicine.disease ,Antibodies, Anti-Idiotypic ,Monoclonal ,Internal Medicine ,biology.protein ,AL amyloidosis ,Humans ,Medicine ,Immunoglobulin Light Chains ,Immunoglobulin Light-chain Amyloidosis ,Antibody ,business - Abstract
AL amyloidosis is a disease characterized by the systemic deposition of immunoglobulin light chain (LC) as amyloid. In several cases, despite the identification of monoclonal LC in serum or urine, ...
- Published
- 2019
10. Reduced intraepidermal nerve fibre density in patients with hereditary transthyretin amyloidosis
- Author
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Konen Obayashi, Teruaki Masuda, Aito Isoguchi, Mitsuharu Ueda, Taro Yamashita, Yukio Ando, Masayoshi Tasaki, Yasuteru Inoue, Toshiya Nomura, Yohei Misumi, Yui Sonoda, and Kyosuke Kanenawa
- Subjects
Male ,Amyloid ,endocrine system ,Pathology ,medicine.medical_specialty ,Nerve fibre ,Small Fiber Neuropathy ,Neural Conduction ,macromolecular substances ,030204 cardiovascular system & hematology ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,medicine ,Humans ,Prealbumin ,In patient ,Peripheral Nerves ,Skin pathology ,Skin ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,nutritional and metabolic diseases ,Amyloid fibril ,medicine.disease ,Transthyretin ,Amyloid Neuropathy ,Mutation ,biology.protein ,Female ,business ,030217 neurology & neurosurgery - Abstract
Hereditary transthyretin (ATTRm) amyloidosis is an autosomal-dominant disorder caused by mutations in TTR, characterized by systemic accumulation of amyloid fibrils in various organs and peripheral...
- Published
- 2019
11. Class I small leucine-rich proteoglycans (SLRPs) colocalise with the Aβ2M amyloid deposits: implications for the roles of SLRP core proteins in the pathogenesis of dialysis-related amyloidosis
- Author
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Itaru Yamaguchi, Taro Yamashita, Tadakazu Okoshi, Mitsuharu Ueda, Akihiko Matsumine, Hironobu Naiki, Yasuo Kokubo, and Yukio Ando
- Subjects
Male ,Small Leucine-Rich Proteoglycans ,Amyloid ,Chemistry ,Plaque, Amyloid ,Core protein ,Amyloidosis ,Amyloid fibril ,Cell biology ,carbohydrates (lipids) ,Glycosaminoglycan ,Pathogenesis ,Dialysis related amyloidosis ,Renal Dialysis ,mental disorders ,Internal Medicine ,Humans ,Female ,beta 2-Microglobulin - Abstract
Various amyloid associated molecules including glycosaminoglycans (GAGs) and proteoglycans (PGs) are believed to enhance the deposition of β2-microglobulin (β2-m)-related (Aβ2M) amyloid fibrils in ...
- Published
- 2019
12. Transthyretin amyloid-related cerebral angiitis after liver transplantation
- Author
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Konen Obayashi, Mitsuharu Ueda, Teruaki Masuda, Taro Yamashita, Koji Ohnishi, Yasuteru Inoue, Motohiro Takeya, Yukio Ando, Akihiko Ueda, and Yohei Misumi
- Subjects
Adult ,Male ,endocrine system ,Pathology ,medicine.medical_specialty ,Amyloid ,medicine.medical_treatment ,Autopsy ,030204 cardiovascular system & hematology ,Liver transplantation ,Magnetic resonance angiography ,Cerebral angiitis ,03 medical and health sciences ,0302 clinical medicine ,mental disorders ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Cognitive Dysfunction ,Amyloid Neuropathies, Familial ,biology ,medicine.diagnostic_test ,business.industry ,Brain ,nutritional and metabolic diseases ,medicine.disease ,Liver Transplantation ,Cerebral Amyloid Angiopathy ,Amyloid Neuropathy ,Transthyretin ,biology.protein ,Cerebral amyloid angiopathy ,business ,Magnetic Resonance Angiography ,030217 neurology & neurosurgery - Abstract
Patients with transthyretin (TTR) Y114C develop fatal lobular hemorrhage and rapidly progressive dementia that presents with cerebral amyloid angiopathy (CAA) [1,2]. Because TTR is produced by the ...
- Published
- 2019
13. Changes in nerve excitability indices in hereditary transthyretin amyloidosis
- Author
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Sonoko Misawa, Konen Obayashi, Mitsuharu Ueda, Kotaro Takamatsu, Yukio Ando, Yohei Misumi, Teruaki Masuda, Taro Yamashita, Yasuteru Inoue, and Satoshi Kuwabara
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Potassium Channels ,macromolecular substances ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Aged ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,nutritional and metabolic diseases ,Middle Aged ,medicine.disease ,Axons ,nervous system diseases ,Transthyretin ,Amyloid Neuropathy ,biology.protein ,Amyloid polyneuropathy ,Female ,Sodium-Potassium-Exchanging ATPase ,business ,Nerve excitability - Abstract
Hereditary transthyretin (ATTR, ATTRm) amyloidosis, which is also called transthyretin-type familial amyloid polyneuropathy (ATTR-FAP), is a life-threatening, autosomal dominant systemic amyloidosi...
- Published
- 2019
14. The current status of the Transthyretin Amyloidosis Outcomes Survey (THAOS) in Japan
- Author
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Rajiv Mundayat, Yoshiki Sekijima, Tomonori Ishii, and Yukio Ando
- Subjects
Adult ,Male ,Pediatrics ,medicine.medical_specialty ,education ,macromolecular substances ,030204 cardiovascular system & hematology ,03 medical and health sciences ,0302 clinical medicine ,Japan ,Surveys and Questionnaires ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Aged ,Aged, 80 and over ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,nutritional and metabolic diseases ,Middle Aged ,medicine.disease ,nervous system diseases ,Transthyretin ,Amyloid Neuropathy ,Mutation ,Mutation (genetic algorithm) ,biology.protein ,Female ,Observational study ,business ,030217 neurology & neurosurgery - Abstract
The Transthyretin Amyloidosis Outcomes Survey (THAOS) was established in December 2007 and is the largest ongoing, international, observational registry, enrolling subjects with transthyretin amylo...
- Published
- 2019
15. Clinical potential of dual-energy cardiac CT in cardiac amyloidosis
- Author
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Kenichi Tsujita, Yawara Kawano, Masao Matsuoka, Mitsuharu Ueda, Taro Yamashita, Seitaro Oda, Yutaka Okuno, Takeshi Nakaura, Yasuhiro Izumiya, Daisuke Utsunomiya, Hiroyuki Hata, Yasuyuki Yamashita, Seiji Takashio, Yukio Ando, and Kyoko Hirakawa
- Subjects
Male ,medicine.medical_specialty ,Gadolinium ,030204 cardiovascular system & hematology ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,medicine ,Humans ,Late gadolinium enhancement ,In patient ,cardiovascular diseases ,Dual energy ,business.industry ,Heart ,Amyloidosis ,Middle Aged ,musculoskeletal system ,Magnetic Resonance Imaging ,Systemic amyloidosis ,Cardiac amyloidosis ,cardiovascular system ,Radiology ,Tomography, X-Ray Computed ,business ,Cardiac magnetic resonance ,030217 neurology & neurosurgery ,circulatory and respiratory physiology - Abstract
In patients with systemic amyloidosis, cardiac magnetic resonance (CMR) with late gadolinium enhancement (LGE) imaging facilitates diagnosing cardiac involvement. It was recently reported that CMR ...
- Published
- 2019
16. Histopathological and biochemical analyses of prostate corpora amylacea
- Author
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Kyosuke Kanenawa, Mitsuharu Ueda, Toshiya Nomura, Taro Yamashita, Teruaki Masuda, Yukio Ando, Aito Isoguchi, Yohei Misumi, and Yukimoto Tsuda
- Subjects
Pathology ,medicine.medical_specialty ,urogenital system ,business.industry ,education ,030204 cardiovascular system & hematology ,humanities ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Prostate ,Internal Medicine ,medicine ,business ,Corpora amylacea ,030217 neurology & neurosurgery - Abstract
Corpora amylacea (CA) are intraluminal contents frequently found in the elderly [1,2]. Especially, prostatic CA are frequently found in prostate [3]. However, histological and biochemical features ...
- Published
- 2019
17. Inhibition of insulin amyloid fibril formation by cyclodextrins
- Author
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Keisuke Kitagawa, Masayoshi Tasaki, Yohei Misumi, Hirofumi Jono, Mitsuharu Ueda, Hidetoshi Arima, Yuya Hayashi, Taro Yamashita, Yukio Ando, and Konen Obayashi
- Subjects
Models, Molecular ,Amyloid ,medicine.medical_specialty ,medicine.medical_treatment ,Molecular Sequence Data ,Insulin Detemir ,In vivo ,Diabetes mellitus ,Internal medicine ,Internal Medicine ,medicine ,Humans ,Insulin ,In patient ,Amino Acid Sequence ,Benzothiazoles ,Insulin Aspart ,Fluorescent Dyes ,Cyclodextrins ,Chemistry ,medicine.disease ,Amyloid fibril ,Recombinant Proteins ,In vitro ,Solutions ,Kinetics ,Thiazoles ,Spectrometry, Fluorescence ,Endocrinology ,Amino Acid Substitution ,Drug carrier - Abstract
Localized insulin-derived amyloid masses occasionally form at the site of repeated insulin injections in patients with insulin-dependent diabetes and cause subcutaneous insulin resistance. Various kinds of insulin including porcine insulin, human insulin, and insulin analogues reportedly formed amyloid fibrils in vitro and in vivo, but the impact of the amino acid replacement in insulin molecules on amyloidogenicity is largely unknown. In the present study, we demonstrated the difference in amyloid fibril formation kinetics of human insulin and insulin analogues, which suggests an important role of the C-terminal domain of the insulin B chain in nuclear formation of amyloid fibrils. Furthermore, we determined that cyclodextrins, which are widely used as drug carriers in the pharmaceutical field, had an inhibitory effect on the nuclear formation of insulin amyloid fibrils. These findings have significant implications for the mechanism underlying insulin amyloid fibril formation and for developing optimal additives to prevent this subcutaneous adverse effect.
- Published
- 2015
18. C-terminal unfolding of an amyloidogenicβ2-microglobulin fragment:ΔN6β2-microglobulin
- Author
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Yuichiro Higashimoto, Genki Suenaga, Yukio Ando, Yoshinori Uji, and Yoshihiro Motomiya
- Subjects
Adult ,medicine.drug_class ,Peptide ,Monoclonal antibody ,Renal Dialysis ,Internal Medicine ,medicine ,Humans ,Surface plasmon resonance ,Aged ,Protein Unfolding ,chemistry.chemical_classification ,biology ,Beta-2 microglobulin ,Amyloidosis ,Antibodies, Monoclonal ,Middle Aged ,medicine.disease ,Molecular biology ,Peptide Fragments ,Amino acid ,Biochemistry ,chemistry ,Monoclonal ,biology.protein ,Antibody ,beta 2-Microglobulin ,Protein Binding - Abstract
A β2-microglobulin (β2m) fragment that lacks the first six amino acids, i.e., ΔN6β2-microglobulin (ΔN6β2m), is an endogenous, proteolytically derived, amyloidogenic fragment of β2m, the precursor protein in Aβ2M amyloidosis (dialysis-related amyloidosis). As reports suggest the importance of C-terminal unfolding for the amyloidogenicity of β2m, in this study we aimed to investigate conformational characteristics of ΔN6β2m related to amyloidogenicity. We also measured the concentration of an amyloidogenic intermediate of β2m with C-terminal unfolding (β2m92-99) in serum samples from 10 patients undergoing hemodialysis (HD).We utilized capillary electrophoretic analysis, surface plasmon resonance and enzyme-linked immunosorbent assay.We confirmed the normal core structure of ΔN6β2m with a commercial monoclonal anti-β2m antibody. In addition, using the specific monoclonal antibody for the C-terminal peptide, i.e. mAb 92-99, we confirmed unfolding in the C-terminal region of ΔN6β2m. On the basis of these findings, we established an ELISA to measure β2m92-99 using ΔN6β2m as a standard molecule in circulation. However, we did not detect β2m92-99 in serum from 10 HD patients, despite the absence of uremic inhibitors in the serum.
- Published
- 2014
19. Late iodine enhancement and myocardial extracellular volume quantification in cardiac amyloidosis by using dual-energy cardiac computed tomography performed on a dual-layer spectral detector scanner
- Author
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Hiroyuki Hata, Seitaro Oda, Yasuyuki Yamashita, Seiji Takashio, Daisuke Utsunomiya, Yasuhiro Izumiya, Kenichi Tsujita, Yukio Ando, Takeshi Nakaura, and Kyoko Hirakawa
- Subjects
Scanner ,Cardiac computed tomography ,Radiography ,chemistry.chemical_element ,030204 cardiovascular system & hematology ,Iodine ,030218 nuclear medicine & medical imaging ,Radiography, Dual-Energy Scanned Projection ,03 medical and health sciences ,0302 clinical medicine ,Extracellular fluid ,Internal Medicine ,Humans ,Medicine ,business.industry ,Myocardium ,Detector ,Dual layer ,Heart ,Amyloidosis ,Middle Aged ,Magnetic Resonance Imaging ,chemistry ,Cardiac amyloidosis ,Female ,Cardiomyopathies ,Nuclear medicine ,business - Abstract
A 51-year-old female patient presented with progressive dyspnea, fatigue and lower extremity edema that had persisted for the past six months. Transthoracic echocardiography demonstrated concentric...
- Published
- 2018
20. A novel transgenic mouse model expressing mutant TTR gene causing oculoleptomeningeal type of ATTRm amyloidosis
- Author
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Aito Isoguchi, Yohei Misumi, Mitsuharu Ueda, Teruaki Masuda, Yukio Ando, Taro Yamashita, Konen Obayashi, and Kyosuke Kanenawa
- Subjects
Genetically modified mouse ,Amyloid Neuropathies, Familial ,endocrine system ,biology ,Amyloidosis ,Mutant ,nutritional and metabolic diseases ,Mice, Transgenic ,medicine.disease ,Molecular biology ,Mice ,Transthyretin ,Mutation ,Internal Medicine ,medicine ,biology.protein ,Animals ,Humans ,Prealbumin ,Gene - Abstract
Hereditary transthyretin (ATTRm) amyloidosis is an autosomal dominant hereditary disease caused by TTR mutations and shows systemic organ failures [1]. To date, more than 140 kinds of TTR mutations...
- Published
- 2019
21. Evaluation of myoelectrical activities of descending colon by electrointestinogram in patients with ATTRm amyloidosis
- Author
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Konen Obayashi, Masayoshi Tasaki, Mitsuharu Ueda, Yukio Ando, and Teruaki Masuda
- Subjects
Adult ,Diarrhea ,Male ,Amyloid Neuropathies, Familial ,medicine.medical_specialty ,Adolescent ,Gastrointestinal Diseases ,business.industry ,Amyloidosis ,Myography ,medicine.disease ,Gastroenterology ,Descending colon ,Gastrointestinal Tract ,Young Adult ,medicine.anatomical_structure ,Internal medicine ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Female ,In patient ,business ,Aged - Published
- 2019
22. Usefulness of plasma B-type natriuretic peptide as a prognostic marker of cardiac function in senile systemic amyloidosis and in familial amyloidotic polyneuropathy
- Author
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Hisayo Yasuda, Hisao Ogawa, Makoto Shono, Hiroki Usuku, Masayoshi Tasaki, Yukio Ando, Toshinori Oshima, and Konen Obayashi
- Subjects
Male ,Cardiac function curve ,medicine.medical_specialty ,medicine.drug_class ,Diastole ,Polyneuropathies ,Troponin T ,Internal medicine ,Natriuretic Peptide, Brain ,Internal Medicine ,medicine ,Natriuretic peptide ,Humans ,Prealbumin ,Aged ,Aged, 80 and over ,biology ,business.industry ,Amyloidosis ,C-reactive protein ,medicine.disease ,Transthyretin ,C-Reactive Protein ,Echocardiography ,biology.protein ,Cardiology ,Female ,business ,Polyneuropathy - Abstract
In senile systemic amyloidosis (SSA), a common age-related amyloidosis, wild-type transthyretin accumulates in tissues, with a primary result being cardiac dysfunction. Here, we aimed to clarify the usefulness of B-type natriuretic peptide (BNP) as a prognostic marker of cardiac function in SSA and in familial amyloidotic polyneuropathy (FAP).We studied 13 patients with severe SSA and 14 patients with FAP. SSA patients, but not FAP patients, demonstrated a significant correlation of log BNP with the echocardiographic diastolic marker E/e' ratio (r = 0.78, p0.01). SSA patients also showed significant correlations between log BNP and log C-reactive protein or log high-sensitive troponin T (r = 0.70, p0.01; r = 0.64, p0.05). FAP patients, however, had significant correlations between log BNP and left ventricular wall thickness (intraventricular septum thickness diastole and posterior wall thickness diastole) (r = 0.73, p0.01; r = 0.77, p0.01). The mean log BNP level in the follow-up period was significantly higher than that in the diagnostic period in SSA patients (2.65 ± 0.45 versus 2.36 ± 0.40, p0.01) but not in FAP patients (1.91 ± 0.56 versus 1.93 ± 0.45, p = 0.87). An especially notable phenomenon was the high plasma BNP level (≥180 pg/ml) in SSA patients.Plasma BNP levels may be a useful prognostic marker of cardiac function in SSA.
- Published
- 2013
23. A novel transthyretin variant V28S (p.V48S) with a double-nucleotide substitution in the same codon
- Author
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Teruaki Masuda, Yohei Misumi, Mitsuharu Ueda, Masamitsu Okada, Taro Yamashita, Yukio Ando, and Masayoshi Tasaki
- Subjects
0301 basic medicine ,Genetics ,endocrine system ,Systemic disease ,Amyloidosis ,nutritional and metabolic diseases ,Nucleotide substitution ,Biology ,Gene mutation ,medicine.disease ,Phenotype ,03 medical and health sciences ,Transthyretin ,030104 developmental biology ,0302 clinical medicine ,Mutation (genetic algorithm) ,Internal Medicine ,medicine ,biology.protein ,030217 neurology & neurosurgery - Abstract
Hereditary transthyretin (TTR) amyloidosis is an autosomal-dominant fatal systemic disease, with various phenotypes related to different TTR gene mutations. The most common mutation is caused by a ...
- Published
- 2017
24. A late-onset case of hereditary transthyretin amyloidosis with a novel compound heterozygous mutation
- Author
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Yohei Misumi, Sayaka Matsumoto, Teruaki Masuda, Yukio Ando, Taro Yamashita, Mayumi Mizukami, Tomoko Amano, Hirokazu Furuya, Mitsuharu Ueda, and Masayoshi Tasaki
- Subjects
Male ,0301 basic medicine ,Heterozygote ,Pathology ,medicine.medical_specialty ,Amyloid ,Late onset ,Compound heterozygosity ,Mass Spectrometry ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,Humans ,Prealbumin ,Medicine ,Age of Onset ,Aged ,Amyloid Neuropathies, Familial ,Gastrointestinal tract ,biology ,business.industry ,Amyloidosis ,nutritional and metabolic diseases ,Heterozygote advantage ,medicine.disease ,Transthyretin ,030104 developmental biology ,Mutation ,biology.protein ,Female ,Age of onset ,business ,030217 neurology & neurosurgery - Abstract
Hereditary transthyretin (TTR) amyloidosis is characterized by ATTR amyloid deposits in various tissue sites and organs, such as peripheral nerves, heart, gastrointestinal tract, kidneys, and eyes ...
- Published
- 2017
25. Disruption of blood–nerve barriers in hereditary transthyretin (ATTR) amyloidosis
- Author
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Masahiro Iijima, Shu Ichi Ikeda, Mie Takahashi, Shohei Ikeda, Yuichi Kawagashira, Masahisa Katsuno, Gen Sobue, Yukio Ando, Haruki Koike, and Yohei Misumi
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Cell Survival ,030204 cardiovascular system & hematology ,medicine.disease_cause ,Plasma ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,medicine ,Humans ,Cell survival ,Aged ,Amyloid Neuropathies, Familial ,Benzoxazoles ,Mutation ,biology ,business.industry ,Amyloidosis ,Middle Aged ,medicine.disease ,Transthyretin ,Amyloid Neuropathy ,Peripheral neuropathy ,biology.protein ,Female ,business ,030217 neurology & neurosurgery ,Attr amyloidosis - Abstract
Recent progress in diagnostic techniques has revealed that hereditary transthyretin (ATTR) amyloidosis is widely prevalent in areas other than conventional endemic foci [1–3]. Peripheral neuropathy...
- Published
- 2017
26. Establishment of a diagnostic center for amyloidosis in Japan by Kumamoto University
- Author
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Teruaki Masuda, Masayoshi Tasaki, Taro Yamashita, Yohei Misumi, Yukio Ando, Konen Obayashi, Mitsuharu Ueda, and Kotaro Takamatsu
- Subjects
medicine.medical_specialty ,Universities ,biology ,business.industry ,Amyloidosis ,nutritional and metabolic diseases ,macromolecular substances ,030204 cardiovascular system & hematology ,medicine.disease ,Dermatology ,Hospitals ,03 medical and health sciences ,Transthyretin ,0302 clinical medicine ,Japan ,Internal Medicine ,medicine ,biology.protein ,Humans ,Center (algebra and category theory) ,business ,030217 neurology & neurosurgery - Abstract
Although amyloidosis was an intractable disease, recently novel disease modifying therapies have been applied to several types of amyloidosis. Especially, for hereditary transthyretin (ATTR) amyloi...
- Published
- 2017
27. Occurrence factors and clinical picture of iatrogenic transthyretin amyloidosis after domino liver transplantation
- Author
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Teruaki Masuda, Yukio Ando, Toshinori Oshima, Taro Yamashita, Masayoshi Tasaki, Yohei Misumi, Mitsuharu Ueda, and Konen Obayashi
- Subjects
medicine.medical_specialty ,Time Factors ,medicine.medical_treatment ,Iatrogenic Disease ,Kaplan-Meier Estimate ,macromolecular substances ,030230 surgery ,Liver transplantation ,Gastroenterology ,Domino ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Internal Medicine ,medicine ,Humans ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,nutritional and metabolic diseases ,medicine.disease ,Liver Transplantation ,Transthyretin ,surgical procedures, operative ,biology.protein ,030211 gastroenterology & hepatology ,business ,Hepatic disorders - Abstract
Domino liver transplantation (DLT) with liver grafts from patients with hereditary transthyretin (TTR) amyloidosis has been performed for patients with fatal hepatic disorders. Since 2004, several ...
- Published
- 2017
28. Spinal multifocal amyloidosis derived from wild-type transthyretin
- Author
-
Yukio Ando, Hiroshi Mizuta, Satoru Shinriki, Konen Obayashi, Mitsuharu Ueda, Takanao Sueyoshi, Makoto Shono, Akira Sei, Hirofumi Jono, Toshinori Oshima, Yohei Misumi, and Taro Yamashita
- Subjects
Male ,Familial amyloidosis ,endocrine system ,Pathology ,medicine.medical_specialty ,Blotting, Western ,Diagnosis, Differential ,Pathogenesis ,Amyloid disease ,X ray computed ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Radiculopathy ,Aged ,biology ,business.industry ,Amyloidosis ,Wild type ,nutritional and metabolic diseases ,medicine.disease ,Magnetic Resonance Imaging ,Systemic amyloidosis ,Transthyretin ,biology.protein ,Spinal Diseases ,Spondylosis ,Tomography, X-Ray Computed ,business - Abstract
Spinal amyloidosis can occur as a part of systemic amyloidosis or as localized amyloidomas. However, the exact pathogenesis of the spinal amyloidosis remains to be fully understood. Transthyretin (TTR) is an amyloidogenic protein causing two kinds of amyloid diseases. One is senile systemic amyloidosis (SSA), which is caused by wild-type (WT) TTR and primarily affects cardiac functions. The other type is familial amyloidosis, which is mainly induced by mutated TTR. We report here the first case of multifocal spinal TTR amyloidosis derived from WT TTR with radiculomyelopathy and destructive spondylosis. The data and clinical manifestations suggest that the patient may develop SSA. Clinical manifestations of TTR-related amyloidosis may vary more than we previously thought. In spinal amyloidosis, WT TTR is one of the candidate precursor proteins for the disease.
- Published
- 2011
29. Transthyretin-related vitreous amyloidosis in different endemic areas
- Author
-
Eiko Ando, Ole B. Suhr, Ola Sandgren, Yukio Ando, Takahiro Kawaji, and Hidenobu Tanihara
- Subjects
Adult ,Male ,Pathology ,medicine.medical_specialty ,Japan ,Internal Medicine ,Humans ,Prealbumin ,Medicine ,In patient ,Age of Onset ,Vitreous opacity ,Aged ,Aged, 80 and over ,Sweden ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Genetic heterogeneity ,Amyloidosis ,Middle Aged ,medicine.disease ,Vitreous Body ,Transthyretin ,biology.protein ,Female ,business ,Polyneuropathy - Abstract
to investigate the vitreous opacity in patients with familial amyloidotic polyneuropathy (FAP) in two major endemic areas, Japan and Sweden.we obtained clinical data for 90 patients with vitreous opacity that was associated with FAP amyloidogenic transthyretin (ATTR) Val30Met; 18 Japanese patients and 72 Swedish patients. We reviewed medical records at Kumamoto University Hospital in Japan and Umeå University Hospital in Sweden. We evaluated the characteristics of the patients, systemic and ocular histories, clinical findings and treatment.swedish patients were significantly older at the onset of vitreous opacity (mean age 67.8 years) than were Japanese patients (47.6 years). A similar age difference was found for the onset of polyneuropathy. In addition, Swedish patients without polyneuropathy were significantly older (74.1 years) at the onset of vitreous opacity than those with polyneuropathy (64.6 years). A significant difference in the occurrence of vitreous opacity as the only manifestation of FAP was seen for Swedish patients (35%) compared with Japanese patients (6%).swedish FAP ATTR Val30Met patients appeared to develop vitreous opacity later and more frequently compared with Japanese patients.
- Published
- 2010
30. Mouse model to study human A β2M amyloidosis: generation of a transgenic mouse with excessive expression of human β2-microglobulin
- Author
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Yukio Ando, Jinko Sawashita, Hiroshi Tomozawa, Masayuki Mori, Beiru Zhang, Jinze Qian, Pengyao Zhang, Hironobu Naiki, Xiaoying Fu, Junjie Yao, and Keiichi Higuchi
- Subjects
Genetically modified mouse ,Amyloid ,Pathology ,medicine.medical_specialty ,Apolipoprotein B ,BACE1-AS ,Mice, Transgenic ,Mice ,mental disorders ,Internal Medicine ,medicine ,Animals ,Humans ,Beta (finance) ,biology ,Chemistry ,Beta-2 microglobulin ,Amyloidosis ,medicine.disease ,Molecular biology ,Disease Models, Animal ,Knockout mouse ,biology.protein ,beta 2-Microglobulin ,Apolipoprotein A-II - Abstract
Patients on long-term hemodialysis can develop dialysis-related amyloidosis (DRA) due to deposition of beta(2)-microglobulin (beta(2)m) into amyloid fibrils (Abeta(2)M). Despite intensive biochemical studies, the pathogenesis of amyloid deposition in DRA patients remains poorly understood. To elucidate the mechanisms that underlie Abeta(2)M fibril formation in DRA, we generated transgenic mice that overexpress human beta(2)m protein in a mouse beta(2)m gene knockout background (hB2MTg(+/+) mB2m(+/+)). The hB2MTg(+/+)mB2m(-/-) mice express a high level of human beta(2)m protein in many tissues as well as a high plasma beta(2)m concentration (192.8 mg/L). This concentration is >100 times higher than that observed in healthy humans and >4 times higher than that detected in patients on dialysis. We examined spontaneous and amyloid fibril-induced amyloid deposition in these mice. Amyloid deposition of beta(2)m protein was not observed in aged or amyloid fibril injected animals. However, mouse senile apolipoprotein A-II amyloidosis (AApoAII) was detected, particularly in the joints of mice that were injected with AApoAII amyloid fibrils. This study demonstrates that this mouse model could be valuable in studying the components and conditions that promote DRA, and indicates that high plasma concentrations of hbeta(2)m as well as seeding with pre-existing amyloid fibrils may not be sufficient to induce Abeta(2)M.
- Published
- 2010
31. The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy
- Author
-
Tomohiko Nakamura, Masaaki Hirayama, Yukio Ando, Saori Morozumi, Haruki Koike, Shu-ichi Ikeda, Yuichi Kawagashira, Gen Sobue, Masahiko Yamamoto, Naoki Hattori, Fumiaki Tanaka, and Masahiro Iijima
- Subjects
Adult ,Male ,medicine.medical_specialty ,Neural Conduction ,Wrist ,Nerve conduction velocity ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Ulnar nerve entrapment ,Carpal tunnel syndrome ,Ulnar nerve ,Ulnar Nerve ,Aged ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,Middle Aged ,medicine.disease ,Carpal Tunnel Syndrome ,Median nerve ,Median Nerve ,nervous system diseases ,Surgery ,body regions ,Transthyretin ,medicine.anatomical_structure ,Amino Acid Substitution ,biology.protein ,Female ,business - Abstract
Carpal tunnel syndrome (CTS) is frequently reported in association with amyloidosis. We determined the significance of CTS in transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) by comparing the electrophysiological indices of the median and ulnar nerves in 58 patients. As a whole, sensory nerve conduction velocity (SCV) was slowed and distal motor latency (DML) was prolonged to a similar extent in the median and ulnar nerves in these patients. The extent of abnormalities in the median nerve was almost similar to that in the ulnar nerve in both early-onset cases from endemic foci and late-onset cases from non-endemic areas. In age-matched idiopathic patients with CTS (20 patients, 27 hands), the slowing of SCV and the prolongation of DML in the median nerve were significant, while the slowing of motor conduction velocity was much less compared to FAP ATTR Val30Met patients. Although concomitant lesions in the ulnar nerve entrapment site at the wrist cannot be excluded, these findings indicate that CTS is not the sole distinctive feature in the majority of FAP ATTR Val30Met patients. The electrophysiological abnormality at the distal portion of the median nerve may be a consequence of polyneuropathy rather than an entrapment injury.
- Published
- 2009
32. Multi-elemental analysis of serum and amyloid fibrils in familial amyloid polyneuropathy patients
- Author
-
Hirofumi Kai, Mary Ann Suico, Masanori Miyata, Takashi Sato, Masami Nishiyama, Tsuyoshi Shuto, Seiko Susuki, and Yukio Ando
- Subjects
Adult ,Male ,Amyloid ,Pathology ,medicine.medical_specialty ,Mass Spectrometry ,Amyloid disease ,Internal medicine ,Internal Medicine ,Humans ,Point Mutation ,Prealbumin ,Medicine ,In patient ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Mean age ,Middle Aged ,medicine.disease ,Amyloid fibril ,Transthyretin ,Endocrinology ,Amino Acid Substitution ,Metals ,Case-Control Studies ,Amyloid polyneuropathy ,biology.protein ,Female ,business ,Polyneuropathy ,Blood Chemical Analysis - Abstract
There is accumulating evidence of the involvement of biological metal imbalance in the progression of amyloid diseases such as Alzheimer's, Parkinson's and prion diseases. However, the mineral status in patients affected with familial amyloidotic polyneuropathy (FAP) has not been investigated. It is the aim of this study to determine the metal concentrations in the serum and in the transthyretin (TTR) amyloid fibrils of FAP amyloidogenic TTR (ATTR) V30M patients. Multi-elemental analysis of 17 metals by high-resolution inductively coupled plasma mass spectrometry (ICP-MS) revealed a significant decrease of the metals Fe, Cu, Zn, Cs and Ba in the serum of FAP patients (mean age 38.5 +/- 8.3 years; duration of disease 4 +/- 2.6 years) in comparison with that of healthy individuals (mean age 36.2 +/- 9.2 years). On the other hand, these metals, except Cs, were found at high levels in the amyloid fibrils of FAP patients (mean age 55.8 +/- 9.2; duration of disease 6.5 +/- 1.3 years) compared with other metals. These findings firstly suggest that the mineral status could be a candidate factor, which participates in the wide spectrum of clinical pictures of FAP patients.
- Published
- 2008
33. Transthyretin forms amyloid fibrils at physiological pH with ultrasonication
- Author
-
Wei Meng, Satoru Shinriki, Yukio Ando, Konen Obayashi, Shiori Saito, Mitsuharu Ueda, Makoto Uchino, Jaemi Kim, Hiromi Fujimori, and Yohei Misumi
- Subjects
Amyloid ,endocrine system ,Circular dichroism ,Sonication ,macromolecular substances ,In Vitro Techniques ,Fibril formation ,Protein structure ,Microscopy, Electron, Transmission ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Neutral ph ,Protein Structure, Quaternary ,biology ,Chemistry ,Amyloidosis ,nutritional and metabolic diseases ,Hydrogen-Ion Concentration ,Amyloid fibril ,medicine.disease ,Transthyretin ,Biochemistry ,Multiprotein Complexes ,biology.protein - Abstract
In transthyretin (TTR)-related amyloidosis, wild-type TTR (WT-TTR), as well as mutated TTRs play important roles in the pathogenesis of senile systemic amyloidosis and familial amyloidotic polyneuropathy. However, WT-TTR usually forms stable tetramers at physiological pH, and the mechanism of such fibril formation under physiological conditions remains to be elucidated. In this study, we demonstrated WT-TTR amyloid fibril formation at physiological pH with ultrasonication. Cross-linked SDS-PAGE and circular dichroism revealed that ultrasonication induced both tetrameric TTR dissociation and monomeric TTR denaturation. These results indicate that extremely low pH is not an essential condition for TTR amyloid fibril formation if TTR is degenerated in such conditions. In addition, this method allows analysis of accelerator factors or inhibitory agents in TTR amyloid fibril formation at neutral pH.
- Published
- 2008
34. Analysis of amyloid fibrils in the cheetah (Acinonyx jubatus)
- Author
-
Shozo Shoji, Shogo Misumi, Joakim Bergström, Xuguo Sun, Mitsuharu Ueda, Yukio Ando, and Yumi Une
- Subjects
Gel electrophoresis ,Serum Amyloid A Protein ,biology ,medicine.diagnostic_test ,Amyloid ,Molecular mass ,Chemistry ,Liver Diseases ,Amyloidosis ,Fibril ,medicine.disease ,Animal Diseases ,Western blot ,Biochemistry ,biology.animal ,Internal Medicine ,medicine ,Animals ,Acinonyx jubatus ,Amino Acid Sequence ,Serum amyloid A ,Acinonyx - Abstract
Recently, a high prevalence of amyloid A (AA) amyloidosis has been documented among captive cheetahs worldwide. Biochemical analysis of amyloid fibrils extracted from the liver of a Japanese captive cheetah unequivocally showed that protein AA was the main fibril constituent. Further characterization of the AA fibril components by sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) and Western blot analysis revealed three main protein AA bands with approximate molecular weights of 8, 10 and 12 kDa. Mass spectrometry analysis of the 12-kDa component observed in SDS-PAGE and Western blotting confirmed the molecular weight of a 12,381-Da peak. Our finding of a 12-kDa protein AA component provides evidence that the cheetah SAA sequence is longer than the previously reported 90 amino acid residues (approximately 10 kDa), and hence SAA is part of the amyloid fibril.
- Published
- 2006
35. Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D
- Author
-
Masayoshi Tasaki, Kotaro Takamatsu, Yohei Misumi, Teruaki Masuda, Hirotaka Matsui, Seitaro Oda, Kiyonori Nanto, Tomoko Amano, Satoshi Yamashita, Nobuyuki Saga, Konen Obayashi, Taro Yamashita, Yukio Ando, Akiko Fujimoto, and Mitsuharu Ueda
- Subjects
Amyloid ,Pathology ,medicine.medical_specialty ,Cardiomyopathy ,Gene Expression ,030204 cardiovascular system & hematology ,Familial amyloid cardiomyopathy ,03 medical and health sciences ,0302 clinical medicine ,mental disorders ,Internal Medicine ,medicine ,Humans ,Prealbumin ,biology ,business.industry ,Amyloidosis ,Myocardial Perfusion Imaging ,nutritional and metabolic diseases ,Middle Aged ,medicine.disease ,Systemic amyloidosis ,Hereditary Amyloidosis ,Transthyretin ,Echocardiography ,Mutation ,Amyloid polyneuropathy ,biology.protein ,Female ,Cardiomyopathies ,business ,Amyloidosis, Familial ,030217 neurology & neurosurgery - Abstract
Hereditary transthyretin (ATTR) amyloidosis is a systemic amyloidosis caused by mutant TTR and classified into familial amyloid polyneuropathy (ATTR-FAP), familial amyloid cardiomyopathy, and famil...
- Published
- 2016
36. Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan
- Author
-
Yukio Ando, Shu-ichi Ikeda, Takahiko Tokuda, Yo Ichi Takei, and Masamitu Nakazato
- Subjects
Central Nervous System ,Nervous system ,Pathology ,medicine.medical_specialty ,Amyloid ,medicine.medical_treatment ,Gene mutation ,Liver transplantation ,Japan ,Internal Medicine ,Humans ,Prealbumin ,Medicine ,Pathological ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,medicine.disease ,Carpal Tunnel Syndrome ,Magnetic Resonance Imaging ,Liver Transplantation ,Pedigree ,Transthyretin ,medicine.anatomical_structure ,Liver ,Spinal Cord ,Cardiac amyloidosis ,Mutation ,biology.protein ,business - Abstract
Non-Val30Met TTR type FAP is being increasingly recognized; a total of 21 TTR gene mutations related to the development of non-Val30Met type FAP have been identified among Japanese. The clinical phenotypes of these FAP kindreds varied considerably corresponding to the different mutations of TTR gene. In the nervous system, peripheral nerve involvement sometimes started as a carpal tunnel syndrome in addition to peripheral somatic and autonomic neuropathy. Brain and spinal cord dysfunctions due to leptomeningeal amyloidosis infrequently appeared. Severe involvement of the heart was a common finding in the visceral organs, which might causally lead to a poor prognosis for the patients with this form of FAP. Several patients with ATTR non-Val30Met have recently undergone living-related partial liver transplantation, and their postoperative courses have been under careful investigation.
- Published
- 2003
37. Potential use of glucuronylglucosyl-β-cyclodextrin as a novel therapeutic tool for familial amyloidotic polyneuropathy
- Author
-
Yohei Misumi, Makoto Shono, Satoru Shinriki, Mineyuki Mizuguchi, Hirofumi Jono, Mitsuharu Ueda, Takayuki Anno, Toshinori Oshima, Keiichi Motoyama, Yukio Ando, Hidetoshi Arima, Masayoshi Tasaki, Yoshimasa Mori, and Konen Obayashi
- Subjects
Protein Folding ,endocrine system ,Amyloid ,Oligosaccharides ,Turn (biochemistry) ,In vivo ,Internal Medicine ,medicine ,Animals ,Humans ,Prealbumin ,chemistry.chemical_classification ,Amyloid Neuropathies, Familial ,biology ,Chemistry ,Tryptophan ,nutritional and metabolic diseases ,Models, Theoretical ,medicine.disease ,Rats ,Amino acid ,Transthyretin ,Biochemistry ,biology.protein ,Protein folding ,Rats, Transgenic ,Polyneuropathy - Abstract
Transthyretin (TTR)-related familial amyloidotic polyneuropathy, which is induced by amyloidogenic transthyretin (ATTR), is characterized by systemic accumulation of amyloid fibrils. Although it is believed that protein misfolding of monomeric form of TTR is a rate-limiting step for TTR amyloid formation, no effective therapy targeting this misfolding step is available. Our recent studies revealed that cyclodextrins (CyDs), cyclic oligosaccharides composed of glucose units, might interact with TTR and prevent the protein misfolding. In this study, we focused on and elucidated the inhibitory effect of 6-O-α-(4-O-α-D-Glucuronyl)-D-glucosyl-β-CyD (GUG-β-CyD) on TTR amyloid formation. Tryptophan (Trp) fluorescence and (1)H-NMR spectroscopy analyses indicated that GUG-β-CyD stabilized TTR conformation via interaction with the hydrophobic amino acids of TTR. Moreover, GUG-β-CyD suppressed TTR deposition in transgenic rats possessing a human ATTR V30M gene in vivo. Collectively, these data indicate that GUG-β-CyD may inhibit TTR misfolding by stabilizing its conformation, which, in turn, suppresses TTR amyloid formation.
- Published
- 2012
38. Systemic delivery of transthyretin siRNA mediated by lactosylated dendrimer/α-cyclodextrin conjugates into hepatocyte for familial amyloidotic polyneuropathy therapy
- Author
-
Taishi Higashi, Keiichi Motoyama, Hidetoshi Arima, Yuya Hayashi, Yukio Ando, Hirofumi Jono, Yoshimasa Mori, and Dinah W.Y. Sah
- Subjects
Amyloid Neuropathies, Familial ,Dendrimers ,alpha-Cyclodextrins ,Small interfering RNA ,biology ,Chemistry ,RNA ,Molecular biology ,In vitro ,Transthyretin ,medicine.anatomical_structure ,RNA interference ,In vivo ,Dendrimer ,Hepatocyte ,Hepatocytes ,Internal Medicine ,biology.protein ,medicine ,Cancer research ,Animals ,Humans ,Prealbumin ,RNA Interference ,RNA, Small Interfering - Abstract
RNA interference (RNAi) is a sequence-specific gene-silencing mechanism triggered by double-stranded RNA and powerful tools for a gene function study and RNAi therapy. Although siRNAs offer several advantages as potential new drugs to treat various diseases, the efficient delivery system of siRNAs in vivo remains a crucial challenge for achieving the desired RNAi effect in clinical development. In particular, when considering the siRNA therapeutics for familial amyloidotic polyneuropathy (FAP) caused by the deposition of variant transthyretin (TTR) in various organs, hepatocyte-selective siRNA delivery is desired because TTR is predominantly synthesized by hepatocytes. In this study, to reveal the potential use of lactosylated dendrimer (G3)/α-cyclodextrin conjugate (Lac-α-CDE (G3)) as novel hepatocyte-selective siRNA carriers in order to treat FAP, we evaluated the RNAi effect of siRNA complex with Lac-α-CDE (G3) both in vitro and in vivo.
- Published
- 2012
39. Two brothers homozygous for the TTR V30M both presenting with a phenotype dominated by central nervous complications
- Author
-
Mitsuharu Ueda, Susumu Kobayashi, Takanari Toyoda, Haruki Koike, Yasukuni Tsugu, Yukio Ando, Gohei Yamada, Takashi Matsumoto, Noriyuki Matsukawa, Takayuki Watanabe, Yuto Uchida, Koji Takada, and Taro Yamashita
- Subjects
Genetics ,Pathology ,medicine.medical_specialty ,biology ,medicine.diagnostic_test ,business.industry ,Central nervous system ,nutritional and metabolic diseases ,Magnetic resonance imaging ,macromolecular substances ,medicine.disease ,Phenotype ,Transthyretin ,medicine.anatomical_structure ,Mutation (genetic algorithm) ,Internal Medicine ,biology.protein ,medicine ,Cerebral amyloid angiopathy ,business - Abstract
We describe the clinical courses of two Japanese brothers (patients 1 and 2) who both were homozygous for the transthyretin (TTR) V30M mutation. They had severe central nervous system (CNS) symptom...
- Published
- 2015
40. Amyloid deposition in ocular tissues of patients with familial amyloidotic polyneuropathy (FAP)
- Author
-
Masaaki Nakamura, Yukio Ando, Hidenobu Tanihara, Yutaka Tanoue, Hisayasu Terazaki, Hiroaki Okabe, Katsuki Haraoka, Akira Hirata, Ole Sandgren, Eiko Ando, Takahiro Tajiri, and Xuguo Sun
- Subjects
Adult ,Male ,Amyloid ,Pathology ,medicine.medical_specialty ,Conjunctiva ,genetic structures ,Eye ,Internal Medicine ,Humans ,Medicine ,Aged ,Aged, 80 and over ,Amyloid Neuropathies, Familial ,biology ,business.industry ,Amyloidosis ,Congo Red ,Middle Aged ,medicine.disease ,eye diseases ,Transthyretin ,medicine.anatomical_structure ,Amyloid deposition ,biology.protein ,Female ,sense organs ,Trabecular meshwork ,business ,Polyneuropathy - Abstract
It is known that the severity of ocular symptoms does not always correlate with the systemic symptoms in patients with familial amyloidotic polyneuropathy (FAP ATTR V30M). The ocular tissues may have their own TTR metabolic system. The aim of this study is to clarify the distribution of amyloid deposition in the ocular tissues and to investigate the relationship between ocular symptoms and histopathological changes. We analyzed histopathologically 9 autopsied eyes taken from 3 Japanese and 6 Swedish patients with FAP ATTR V30M. Localization of amyloid deposition varied among the different cases, but there were some tendencies in the distribution. The degree of amyloid deposition in the ocular tissues was not always correlated with the duration of the disease. The frequency of amyloid deposition in the conjunctiva, iris, trabecular meshwork and vitreous body were 88.9%, 44.4%, 11.1% and 11.1% respectively in the 9 patients. These frequencies in the histopathological changes correlated with the frequencies in the clinical ocular manifestations as previously reported.
- Published
- 2002
41. Long-term effects of liver transplantation on small-fiber dysfunction in Japanese transthyretin (ATTR) V30M hereditary amyloidosis with polyneuropathy (FAP)
- Author
-
Yohei Misumi, Mitsuharu Ueda, Ayane Izaki, Masayoshi Tasaki, Taro Yamashita, Yukio Ando, Teruaki Masuda, Konen Obayashi, and Yukako Yanagisawa
- Subjects
Male ,medicine.medical_specialty ,medicine.medical_treatment ,Liver transplantation ,Gastroenterology ,Polyneuropathies ,03 medical and health sciences ,0302 clinical medicine ,Asian People ,Internal medicine ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Autonomic disturbances ,biology ,business.industry ,Amyloidosis ,medicine.disease ,Hereditary Amyloidosis ,Liver Transplantation ,Transthyretin ,biology.protein ,Female ,business ,Amyloidosis, Familial ,Polyneuropathy ,030217 neurology & neurosurgery - Abstract
In 1995, Ando et al. reported that several autonomic disturbances improved after liver transplantation in a Japanese FAP ATTR V30M patient [1]. On the other hand, Wiklund et al. reported that cardi...
- Published
- 2017
42. In vitro and in vivo assessment of novel derivatives for detecting various amyloid deposits
- Author
-
Konen Obayashi, Teruaki Masuda, Mitsuharu Ueda, Yohei Misumi, Genki Suenaga, Masayoshi Tasaki, Yukio Ando, Taro Yamashita, Yukako Yanagisawa, and Ayane Izaki
- Subjects
0301 basic medicine ,Amyloid ,Chemistry ,Amyloidosis ,In vitro ,Styrenes ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Amyloid deposition ,Biochemistry ,In vivo ,030220 oncology & carcinogenesis ,mental disorders ,Internal Medicine ,Humans ,Aβ amyloid - Abstract
Various styrylbenzene compounds were synthesized and evaluated as mainly Aβ amyloid sensors. These compounds, however, cannot be used for detecting amyloid deposition in peripheral nerves because o...
- Published
- 2017
43. A case with a novel variant transthyretin A36D presenting cardiac phenotype
- Author
-
Yohei Misumi, Toshiya Nomura, Yukio Ando, Mitsuharu Ueda, Masayoshi Tasaki, Taro Yamashita, and Teruaki Masuda
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,endocrine system ,macromolecular substances ,030204 cardiovascular system & hematology ,medicine.disease_cause ,Immunoglobulin Light-chain Amyloidosis ,03 medical and health sciences ,0302 clinical medicine ,Internal Medicine ,medicine ,Humans ,Prealbumin ,Gene ,Genetics ,Mutation ,biology ,business.industry ,Point mutation ,nutritional and metabolic diseases ,Sequence Analysis, DNA ,Middle Aged ,Phenotype ,digestive system diseases ,Transthyretin ,Echocardiography ,biology.protein ,Female ,Cardiac phenotype ,business ,030217 neurology & neurosurgery ,Attr amyloidosis - Abstract
As of today, more than 140 point mutations and a deletion in the transthyretin (TTR) gene have been reported as a cause of hereditary ATTR amyloidosis, and several phenotypes of FAP, including the ...
- Published
- 2017
44. Therapy of ATTR amyloidosis: perspective
- Author
-
Yukio Ando
- Subjects
Oncology ,congenital, hereditary, and neonatal diseases and abnormalities ,endocrine system ,medicine.medical_specialty ,biology ,business.industry ,medicine.medical_treatment ,Perspective (graphical) ,nutritional and metabolic diseases ,Amyloidosis ,Liver transplantation ,medicine.disease ,digestive system diseases ,Transthyretin ,Internal medicine ,Internal Medicine ,biology.protein ,Humans ,Prealbumin ,Medicine ,business ,Polyneuropathy ,Attr amyloidosis - Abstract
Although liver transplantation is the only therapy to halt the clinical manifestations of transthyretin (TTR) related familial amyloidotic polyneuropathy (FAP), the therapy has given rise...
- Published
- 2011
45. Hemodynamic responses after tilt reversal in FAP
- Author
-
Rolf Hörnsten, Sadahisa Okamoto, Marcus Karlsson, Yukio Ando, Ole B. Suhr, Konen Obayashi, and Urban Wiklund
- Subjects
Male ,Amyloid Neuropathies, Familial ,business.industry ,Hemodynamics ,Middle Aged ,Tilt (optics) ,Blood pressure ,Anesthesia ,Internal Medicine ,Amyloid polyneuropathy ,Humans ,Heart rate variability ,Medicine ,business ,Aged - Abstract
The aim of the study was to evaluate hemodynamic responses after tilt reversal in familial amyloid polyneuropathy (FAP). Systolic blood pressure (BP) and heart rate variability (HRV) were analyzed ...
- Published
- 2011
46. Analysis of transthyretin amyloid fibrils from vitreous samples in familial amyloidotic polyneuropathy (Val Met)
- Author
-
Ola Sandgren, Konen Obayashi, Hisayasu Terazaki, Per Ingvar Ohlsson, Akira Negi, Yukio Ando, Erik Lundgren, Anders Olofsson, Eiko Ando, Ole B. Suhr, and Masayuki Ando
- Subjects
Amyloid ,biology ,Chemistry ,Electrospray ionization ,Amyloidosis ,macromolecular substances ,Amyloid fibril ,Mass spectrometry ,medicine.disease ,Transthyretin ,Biochemistry ,Internal Medicine ,biology.protein ,medicine ,Polyneuropathy - Abstract
The aim of the present study was to analyze the forms of wild type and mutated monomeric transthyretin (Val3 et) in the amyloid fibrils of patients with familial amyloidotic polyneuropathy by electrospray ionization mass spectrometry (ESI-MS).The solubility of amyloid fibrils from the vitrectomized samples was examined to determine the appropriate solution for ESI-MS. ESI-MS analysis revealed that heterozy-gotic Val3 et amyloid fibrils contained 14.6 ± 7.5 % normal TTR. In all samples, 3 different types of variant ATTR could be identified: Full length ATTR, and-57, and-157 (or 156) Da from ATTR Val3 et were found. The two peaks showing-57, and-157 (or 156) Da from ATTR Val3 et corresponded to the-Gly, and-Gly-Pro sequences of ATTR Val3 et from the N-terminal.The results illustrate the heterogeneity of ATTR amyloid deposits and this method may be very useful for analyzing amyloid fibrils in ATTR related amyloidosis.
- Published
- 1999
47. Gastrointestinal dysfunction in familial amyloidotic polyneuropathy (ATTR Val3 et) - comparison of Swedish and Japanese patients
- Author
-
Yukio Ando, Hisayasu Terazaki, Gösta Holmgren, Ole B. Suhr, Kazuhiro Tashima, Taro Yamashita, Makoto Uchino, and Konen Obayashi
- Subjects
medicine.medical_specialty ,education.field_of_study ,biology ,business.industry ,medicine.medical_treatment ,Amyloidosis ,Population ,Mean age ,Liver transplantation ,medicine.disease ,Gastroenterology ,Gastrointestinal dysfunction ,Transthyretin ,Endocrinology ,Internal medicine ,Internal Medicine ,biology.protein ,medicine ,business ,education ,Polyneuropathy ,Early onset - Abstract
The aim of the present study was to compare the clinical symptoms of Swedish and Japanese patients with familial amyloidotic polyneuropathy (ATTR Val Met), especially gastrointestinal disturbances, and to correlate the findings with survival.Seventy-three Swedish and 47 Japanese patients were available for the study. Thirty-two Swedish and 7 Japanese patients had undergone liver transplantation. The mean age at onset was 50 for Swedish and 35 for Japanese patients (P
- Published
- 1999
48. Endocrine cells in the upper gastrointestinal tract in relation to gastrointestinal dysfunction in patients with familial amyloidotic polyneuropathy
- Author
-
Magdy El-Salhy, Ole B. Suhr, Yukio Ando, Intissar Anan, and Nils Nyhlin
- Subjects
Adult ,Male ,medicine.medical_specialty ,Enteroendocrine cell ,Amyloid Neuropathies ,Gastroenterology ,Gastric inhibitory polypeptide ,Internal medicine ,Internal Medicine ,medicine ,Humans ,Aged ,Gastrin ,Gastric emptying ,biology ,business.industry ,Stomach ,digestive, oral, and skin physiology ,Chromogranin A ,Middle Aged ,Immunohistochemistry ,digestive system diseases ,Stomach emptying ,medicine.anatomical_structure ,Gastric Emptying ,Duodenum ,biology.protein ,Female ,business ,Digestive System - Abstract
Gastrointestinal (GI) dysfunction is a common complication of familial amyloidotic polyneuropathy (FAP). In previous reports, a decreased content of small and large intestinal endocrine cells has been found in patients with FAP and it has been suggested that this may contribute to the development of GI disturbances. The aim of the present study was to investigate the endocrine cell content in the stomach and duodenum of FAP patients, and to correlate the findings with gastric emptying. Fifteen patients with FAP were included in the study. Twenty-eight subjects with macroscopically and histologically normal mucosa were used as controls for endocrine cell contents and 14 healthy subjects for gastric scintigraphy. The endocrine cells were identified by immunohistochemistry and quantified with image analysis. Gastric emptying time was detected by scintigraphy and endoscopy. The number of chromogranin A-immunoreactive (IR) cells was reduced in all investigated parts of the GI tract except bulbus duodeni. Gastrin/CCK cell content was reduced in duodenum, but tended to be increased in antrum of the stomach (P = 0.07). Otherwise, the content of all other endocrine cells types in the upper GI tract was reduced compared with controls. A correlation with malnutrition was found for gastric inhibitory polypeptide and secretin cell content in bulbus duodeni. Gastric scintigraphy disclosed delayed gastric emptying of solid food, but the finding was not correlated to the decreased content of neuroendocrine cells. The severity of endocrine cell depletion was not correlated to duration of GI disturbances. The present study showed that the endocrine cells of the stomach are affected in FAP patients and that the abnormalities in the upper GI endocrine cells occur early during the course of the disease.
- Published
- 1999
49. Effects of liver transplantation and tafamidis in hereditary transthyretin amyloidosis caused by transthyretin Leu55Pro mutation: a case report
- Author
-
Yohei Misumi, Konen Obayashi, Haruo Nishijima, Tomoya Kon, Yukio Ando, Yukihiro Inomata, Masayuki Baba, Masaki Honda, Chieko Suzuki, and Masahiko Tomiyama
- Subjects
Tafamidis ,biology ,Amyloid ,business.industry ,medicine.medical_treatment ,Amyloidosis ,nutritional and metabolic diseases ,macromolecular substances ,Liver transplantation ,medicine.disease ,nervous system diseases ,Transthyretin ,chemistry.chemical_compound ,chemistry ,Cardiac amyloidosis ,mental disorders ,Mutation (genetic algorithm) ,Internal Medicine ,Cancer research ,biology.protein ,Medicine ,sense organs ,Leucine ,business - Abstract
Hereditary transthyretin amyloid (ATTR) amyloidosis owing to a rare mutation which changes from leucine to proline at transthyretin (TTR) gene position 55 (Leu55Pro), has been reported as aggressiv...
- Published
- 2015
50. Heterogeneity of clinical symptoms in patients with familial amyloidotic polyneuropathy (FAP TTR Met30)
- Author
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Masayuki Ando, Makoto Uchino, Yoshiya Tanaka, Yukio Ando, Kazuhiro Tashima, and Eiko Ando
- Subjects
Pathology ,medicine.medical_specialty ,biology ,business.industry ,Amyloidosis ,Disease ,Clinical type ,medicine.disease ,Transthyretin ,Visceral organ ,Internal medicine ,Internal Medicine ,biology.protein ,Medicine ,In patient ,Stage (cooking) ,business ,Polyneuropathy - Abstract
Patients with familial amyloidotic polyneuropathy (FAP TTR Met 30) manifest clinical jindings, such as auto-nomic dysfunction, sensori-motor polyneuropathy, and visceral organ impairment with the progression of the disease. to clarih the clinical features of each patient and to determine the accurate clinical stages of FAt patients were given clinical scores and divided into 4 different groups by their clinical symptoms. Radar charts of the scores revealed that the shapes of the plotted scores between 2 different time examinations were similar until the bedridden stage of FAc suggesting that the clinical type of FAP had been determined at the onset of the disease and did not change as the disease progressed Retrospective stu4 revealed that most of the patients were near death when the total score became about 70. This evaluating method for FAP TTR Met30 may be useful in systematically evaluating the heterogeneity and the stage of each FAP patient, and also in elucidating the effect of therapies on the pat...
- Published
- 1997
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