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21 results on '"PCHELINA, SOFYA N."'

1. Extracellular Vesicles Secreted by Adipose Tissue during Obesity and Type 2 Diabetes Mellitus Influence Reverse Cholesterol Transport-Related Gene Expression in Human Macrophages

Author

Dracheva, Kseniia V., primary, Pobozheva, Irina A., additional, Anisimova, Kristina A., additional, Panteleeva, Aleksandra A., additional, Garaeva, Luiza A., additional, Balandov, Stanislav G., additional, Hamid, Zarina M., additional, Vasilevsky, Dmitriy I., additional, Pchelina, Sofya N., additional, and Miroshnikova, Valentina V., additional

Published
2024
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3. Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice

Author

Miroshnikova, Valentina V., primary, Vasiluev, Petr A., additional, Linkova, Svetlana V., additional, Soloviov, Vladislav M., additional, Ivanova, Olga N., additional, Tolmacheva, Ekaterina R., additional, Udalova, Vasilisa Y., additional, Baranova, Polina V., additional, Aleksandrova, Darya Y., additional, Strokova, Tatiana V., additional, Miklashevich, Irina M., additional, Izumchenko, Artem D., additional, Dracheva, Kseniia V., additional, Grunina, Maria N., additional, Smirnova, Nataliya N., additional, Kuchina, Anna S., additional, Zakharova, Ekaterina Y., additional, and Pchelina, Sofya N., additional

Published
2023
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4. Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson’s Disease

Author

Kopytova, Alena E., primary, Rychkov, George N., additional, Cheblokov, Alexander A., additional, Grigor’eva, Elena V., additional, Nikolaev, Mikhail A., additional, Yarkova, Elena S., additional, Sorogina, Diana A., additional, Ibatullin, Farid M., additional, Baydakova, Galina V., additional, Izyumchenko, Artem D., additional, Bogdanova, Daria A., additional, Boitsov, Vitali M., additional, Rybakov, Akim V., additional, Miliukhina, Irina V., additional, Bezrukikh, Vadim A., additional, Salogub, Galina N., additional, Zakharova, Ekaterina Y., additional, Pchelina, Sofya N., additional, and Emelyanov, Anton K., additional

Published
2023
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5. Cryo-electron microscopy of adipose tissue extracellular vesicles in obesity and type 2 diabetes mellitus

Author

Miroshnikova, Valentina V., primary, Dracheva, Kseniya V., additional, Kamyshinsky, Roman A., additional, Yastremsky, Evgeny V., additional, Garaeva, Luiza A., additional, Pobozheva, Irina A., additional, Landa, Sergey B., additional, Anisimova, Kristina A., additional, Balandov, Stanislav G., additional, Hamid, Zarina M., additional, Vasilevsky, Dmitriy I., additional, Pchelina, Sofya N., additional, Konevega, Andrey L., additional, and Shtam, Tatiana A., additional

Published
2023
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6. Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked withGBA1Mutations?

Author

Kopytova, Alena E., primary, Usenko, Tatiana S., additional, Baydakova, Galina V., additional, Nikolaev, Mikhail A., additional, Senkevich, Konstantin A., additional, Izyumchenko, Artem D., additional, Tyurin, Alexandr A., additional, Miliukhina, Irina V., additional, Emelyanov, Anton K., additional, Zakharova, Ekaterina Y., additional, and Pchelina, Sofya N., additional

Published
2022
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8. ABCA1 and ABCG1 DNA methylation in epicardial adipose tissue of patients with coronary artery disease

Author

Miroshnikova, Valentina V., primary, Panteleeva, Alexandra A., additional, Pobozheva, Irina A., additional, Razgildina, Natalia D., additional, Polyakova, Ekaterina A., additional, Markov, Anton V., additional, Belyaeva, Olga D., additional, Berkovich, Olga A., additional, Baranova, Elena I., additional, Nazarenko, Maria S., additional, Puzyrev, Valery P., additional, and Pchelina, Sofya N., additional

Published
2021
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10. Additional file 5 of ABCA1 and ABCG1 DNA methylation in epicardial adipose tissue of patients with coronary artery disease

Author

Miroshnikova, Valentina V., Panteleeva, Alexandra A., Pobozheva, Irina A., Razgildina, Natalia D., Polyakova, Ekaterina A., Markov, Anton V., Belyaeva, Olga D., Berkovich, Olga A., Baranova, Elena I., Nazarenko, Maria S., Puzyrev, Valery P., and Pchelina, Sofya N.

Abstract

Additional file 5. The origin bands of WB.The origin bands of WB.

Published
2021
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11. Additional file 3 of ABCA1 and ABCG1 DNA methylation in epicardial adipose tissue of patients with coronary artery disease

Author

Miroshnikova, Valentina V., Panteleeva, Alexandra A., Pobozheva, Irina A., Razgildina, Natalia D., Polyakova, Ekaterina A., Markov, Anton V., Belyaeva, Olga D., Berkovich, Olga A., Baranova, Elena I., Nazarenko, Maria S., Puzyrev, Valery P., and Pchelina, Sofya N.

Subjects
polycyclic compounds, lipids (amino acids, peptides, and proteins)
Abstract

Additional file 3: Table S2. ABCA1 promoter DNA methylation levels (%) in EAT and SAT in studied groups.

Published
2021
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12. Additional file 1 of ABCA1 and ABCG1 DNA methylation in epicardial adipose tissue of patients with coronary artery disease

Author

Miroshnikova, Valentina V., Panteleeva, Alexandra A., Pobozheva, Irina A., Razgildina, Natalia D., Polyakova, Ekaterina A., Markov, Anton V., Belyaeva, Olga D., Berkovich, Olga A., Baranova, Elena I., Nazarenko, Maria S., Puzyrev, Valery P., and Pchelina, Sofya N.

Abstract

Additional file 1: Table S1. Primers and probes for TaqMan RT-PCR.

Published
2021
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13. Additional file 4 of ABCA1 and ABCG1 DNA methylation in epicardial adipose tissue of patients with coronary artery disease

Author

Miroshnikova, Valentina V., Panteleeva, Alexandra A., Pobozheva, Irina A., Razgildina, Natalia D., Polyakova, Ekaterina A., Markov, Anton V., Belyaeva, Olga D., Berkovich, Olga A., Baranova, Elena I., Nazarenko, Maria S., Puzyrev, Valery P., and Pchelina, Sofya N.

Subjects
lipids (amino acids, peptides, and proteins)
Abstract

Additional file 4: Table S3. ABCG1 DNA methylation levels (%) in EAT and SAT in studied groups.

Published
2021
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14. FABP4 and omentin-1 gene expression in epicardial adipose tissue from coronary artery disease patients

Author

Miroshnikova, Valentina V., primary, Polyakova, Ekaterina A., additional, Pobozheva, Irina A., additional, Panteleeva, Aleksandra A., additional, Razgildina, Natalia D., additional, Kolodina, Diana A., additional, Belyaeva, Olga D., additional, Berkovich, Olga A., additional, Pchelina, Sofya N., additional, and Baranova, Elena I., additional

Published
2021
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15. Gene Expression of Lysosomal Membrane Proteins in Parkinson Disease, Associated with Mutations in the Glucocerebrosidase Gene (GBA)

Author

Usenko, Tatiana S., Bezrukova, Anastasia I., Bogdanova, Darya A., Nikolaev, Mikhail A., Miliukhina, Irina V., Gracheva, Elizaveta V., Senkevich, Konstantin A., Zakharova, Ekaterina Yu., Emelyanov, Anton K., and Pchelina, Sofya N.

Subjects
Parkinson disease, CD45+ blood cells, SCARB2, GBA, LAMP2
Abstract

Introduction. In carriers of a mutation in the lysosomal enzyme glucocerebrosidase (GBA) gene, the risk of Parkinson disease (PD) is increased by 7–8 times. However, not all carriers of the GBA gene mutations develop PD during their lifetime. We hypothesize that the dysfunction in the lysosomal membrane proteins involved in autophagy and transport of GBA into the lysosomes can contribute to the development of PD in carriers of mutations in the GBA gene. The aim of the study was to assess the contribution of LAMP2 and SCARB2 genes expression in CD45+ peripheral blood cells to the development of GBA-PD. Materials and methods. We examined 9 patients with GBA-PD, 9 asymptomatic GBA gene mutations carriers, 37 patients with PD, and 56 people in the control group. The relative mRNA level of LAMP2 and SCARB2 genes in CD45+ blood cells, obtained using magnetic sorting, was measured by quantitative real-time polymerase chain reaction using fluorescent probes. Results. The relative mRNA level of LAMP2 and SCARB2 genes in CD45+ blood cells was reduced in patients with GBA-PD in comparison to patients with PD and to controls (LAMP2: p, Анналы клинической и экспериментальной неврологии, Выпуск 2 2020

Published
2020
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17. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Author

MIROSHNIKOVA, VALENTINA V., ROMANOVA, OLGA V., IVANOVA, OLGA N., FEDYAKOV, MIKHAIL A., PANTELEEVA, ALEXANDRA A., BARBITOFF, YURY A., MUZALEVSKAYA, MARIA V., URAZGILDEEVA, SOREJYA A., GUREVICH, VICTOR S., URAZOV, STANISLAV P., SCHERBAK, SERGEY G., SARANA, ANDREY M., SEMENOVA, NATALIA A., ANISIMOVA, INGA V., GUSEVA, DARYA M., PCHELINA, SOFYA N., GLOTOV, ANDREY S., ZAKHAROVA, EKATERINA Y., and GLOTOV, OLEG S.

Subjects
GENES, HYPERCHOLESTEREMIA, AGE groups, PROTEIN domains, RUSSIANS, FAMILIAL hypercholesterolemia, RECESSIVE genes
Abstract

Familial hypercholesterolemia (FH) is caused by mutations in various genes, including the LDLR, APOB and PSCK9 genes; however, the spectrum of these mutations in Russian individuals has not been fully investigated. In the present study, mutation screening was performed on the LDLR gene and other FH‑associated genes in patients with definite or possible FH, using next‑generation sequencing. In total, 59 unrelated patients were recruited and sorted into two separate groups depending on their age: Adult (n=31; median age, 49; age range, 23‑70) and children/adolescent (n=28; median age, 11; age range, 2‑21). FH‑associated variants were identified in 18 adults and 25 children, demonstrating mutation detec‑ tion rates of 58 and 89% for the adult and children/adolescent groups, respectively. In the adult group, 13 patients had FH‑associated mutations in the LDLR gene, including two novel variants [NM_000527.4: c.433_434dupG p.(Val145Glyfs*35) and c.1186G>C p.(Gly396Arg)], 3 patients had APOB mutations and two had ABCG5/G8 mutations. In the chil‑ dren/adolescent group, 21 patients had FH‑causing mutations in the LDLR gene, including five novel variants [NM_000527.4: c.325T>G p.(Cys109Gly), c.401G>C p.(Cys134Ser), c.616A>C p.(Ser206Arg), c.1684_1691delTGGCCCAA p.(Pro563Hisfs*14) and c.940+1_c.940+4delGTGA], and 2 patients had APOB mutations, as well as ABCG8 and LIPA mutations, being found in different patients. The present study reported seven novel LDLR variants considered to be patho‑ genic or likely pathogenic. Among them, four missense variants were located in the coding regions, which corresponded to functional protein domains, and two frameshifts were identified that produced truncated proteins. These variants were observed only once in different patients, whereas a splicing variant in intron 6 (c.940+1_c.940+4delGTGA) was detected in four unre‑ lated individuals. Previously reported variants in the LDLR, APOB, ABCG5/8 and LIPA genes were observed in 33 patients. The LDLR p.(Gly592Glu) variant was detected in 6 patients, representing 10% of the FH cases reported in the present study, thus it may be a major variant present in the Russian population. In conclusion, the present study identified seven novel variants of the LDLR gene and broadens the spectrum of mutations in FH‑related genes in the Russian Federation. [ABSTRACT FROM AUTHOR]

Published
2021
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18. Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease

Author

Shulskaya, Marina V., primary, Alieva, Anelya Kh., additional, Vlasov, Ivan N., additional, Zyrin, Vladimir V., additional, Fedotova, Ekaterina Yu., additional, Abramycheva, Natalia Yu., additional, Usenko, Tatiana S., additional, Yakimovsky, Andrei F., additional, Emelyanov, Anton K., additional, Pchelina, Sofya N., additional, Illarioshkin, Sergei N., additional, Slominsky, Petr A., additional, and Shadrina, Maria I., additional

Published
2018
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19. Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

Author

Heckman, Michael G, Elbaz, Alexis, Brighina, Laura, Pastor, Pao, Payami, Haydeh, Pchelina, Sofya N, Petersen, Maria Skaalum, Puschmann, Andrea, Ritz, Beate, Rogaeva, Ekaterina, Sazci, Ali, Slawek, Jaroslaw, Stefanis, Leonidas, Chartier-Harlin, Marie-Christine, Tan, Eng-King, Toda, Tatsushi, Toft, Mathias, Van Broeckhoven, Christine, Wirdefeldt, Karin, Woitalla, Dirk, Wszolek, Zbigniew K, Zimprich, Alexander, Dardiotis, Efthimios, Destée, Alain, Ferrarese, Carlo, Ferraris, Alessandro, Fiske, Brian, Gispert, Suzana, Hadjigeorgiou, Georgios M, Hattori, Nobutaka, Soto-Ortolaza, Alexandra I, Ioannidis, John P A, Jasinska-Myga, Barbara, Jeon, Beom S, Kim, Yun Joong, Klein, Christine, Kruger, Rejko, Kyratzi, Elli, Lin, Chin-Hsien, Lohmann, Katja, Loriot, Marie-Anne, Serie, Daniel J, Lynch, Timothy, Mellick, George D, Mutez, Eugénie, Opala, Grzegorz, Park, Sung Sup, Petrucci, Simona, Quattrone, Aldo, Sharma, Manu, Silburn, Peter A, Sohn, Young Ho, Aasly, Jan O, Tadic, Vera, Tomiyama, Hiroyuki, Uitti, Ryan J, Valente, Enza Maria, Vassilatis, Demetrios K, Vilariño-Güell, Carles, White, Linda R, Annesi, Grazia, Wu, Ruey-Meei, Xiromerisiou, Georgia, Maraganore, Demetrius M, Farrer, Matthew J, Ross, Owen A, Disease, Genetic Epidemiology Of Parkinson's, Auburger, Georg, Ioannidis, John P, Annesi, Grazie, Bentivoglio, Annarita, Bozi, Maria, Brice, Alexis, Carmine-Belin, Andrea, Carr, Jonathan, Bacon, Justin A, Carroll, Camille, Chase, Bruce, Checkoway, Harvey, Chen, Sheng-Di, Chung, Sun Ju, Cosentino, Carlos, Cresswell, Silke, Deutschlaender, Angela, Boczarska-Jedynak, Magdalena, Foroud, Tatiana, Garraux, Gaëtan, Goldwurm, Stefano, Hadjigeorgiou, George, Jeon, Beom Seok, Kawakami, Hideshi, Kishore, Asha, Krainc, Dimitri, Krygowska-Wajs, Anna, Lay-Son, Luis, Lin, Jeui-Jueng, Mellick, George, Morrison, Karen E, Munhoz, Renato P, Okubadejo, Njide U, Van Broeckhoven, Christine, Heckman, M, Elbaz, A, Soto Ortolaza, A, Serie, D, Aasly, J, Annesi, G, Auburger, G, Bacon, J, Boczarska Jedynak, M, Bozi, M, Brighina, L, Chartier Harlin, M, Dardiotis, E, Destée, A, Ferrarese, C, Ferraris, A, Fiske, B, Gispert, S, Hadjigeorgiou, G, Hattori, N, Ioannidis, J, Jasinska Myga, B, Jeon, B, Kim, Y, Klein, C, Kruger, R, Kyratzi, E, Lin, C, Lohmann, K, Loriot, M, Lynch, T, Mellick, G, Mutez, E, Opala, G, Park, S, Petrucci, S, Quattrone, A, Sharma, M, Silburn, P, Sohn, Y, Stefanis, L, Tadic, V, Tomiyama, H, Uitti, R, Valente, E, Vassilatis, D, Vilariño Güell, C, White, L, Wirdefeldt, K, Wszolek, Z, Wu, R, Xiromerisiou, G, Maraganore, D, Farrer, M, and Ross, O

Subjects
Male, Aging, Parkinson's disease, european continental ancestry group, chemistry.chemical_compound, genetics [Parkinson Disease], Genotype, 80 and over, MAPT, genetics, genetics [Genetic Predisposition to Disease], Genetics, Aged, 80 and over, biology, General Neuroscience, LRRK2, Parkinson Disease, Middle Aged, Protein-Serine-Threonine Kinases, genetics [European Continental Ancestry Group], genetics [alpha-Synuclein], alpha-Synuclein, Medical genetics, Female, interaction, lrrk2, mapt, parkinson's disease, snca, adolescent, adult, aged, aged, 80 and over, asian continental ancestry group, female, genetic predisposition to disease, genotype, haplotypes, humans, leucine-rich repeat serine-threonine protein kinase-2, male, middle aged, parkinson disease, protein-serine-threonine kinases, risk, young adult, alpha-synuclein, tau proteins, genetic variation, Adult, Risk, medicine.medical_specialty, Interaction, Adolescent, Tau protein, MAPT protein, human, tau Proteins, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, genetics [Protein-Serine-Threonine Kinases], White People, Article, Young Adult, Genetic, Asian People, Genetic variation, genetics [Haplotypes], medicine, Humans, Genetic Predisposition to Disease, ddc:610, LRRK2 protein, human, SNCA protein, human, Biology, Aged, Alpha-synuclein, genetics [Asian Continental Ancestry Group], Haplotype, Genetic Variation, medicine.disease, nervous system diseases, genetics [tau Proteins], Haplotypes, chemistry, biology.protein, prevention & control [Parkinson Disease], SNCA, Neurology (clinical), Human medicine, Geriatrics and Gerontology, Developmental Biology
Abstract

The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the leucine-rich repeat kinase 2 (LRRK2) gene was identified, with p.R1398H appearing to be the most likely functional variant. To date, the consistency of the protective effect of LRRK2 p.R1398H across MAPT and SNCA variant genotypes has not been assessed. To address this, we examined 4 SNCA variants (rs181489, rs356219, rs11931074, and rs2583988), the MAPT H1-haplotypedefining variant rs1052553, and LRRK2 p.R1398H (rs7133914) in Caucasian (n = 10,322) and Asian (n = 2289) series. There was no evidence of an interaction of LRRK2 p.R1398H with MAPT or SNCA variants (all p ≥ 0.10); the protective effect of p.R1398H was observed at similar magnitude across MAPT and SNCA genotypes, and the risk effects of MAPT and SNCA variants were observed consistently for LRRK2 p.R1398H genotypes. Our results indicate that the association of LRRK2 p.R1398H with Parkinson's disease is independent of SNCA and MAPT variants, and vice versa, in Caucasian and Asian populations.

Published
2014

20. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

Author

Theuns, Jessie, Verstraeten, Aline, Krüger, Rejko, Puschmann, Andrea, Ritz, Beate, Rogaeva, Ekaterina, Sazci, Ali, Slawek, Jaroslaw, Stefanis, Leonidas, Tan, Eng-King, Toda, Tatsushi, Toft, Matthias, Van Broeckhoven, Christine, Lesage, Suzanne, Wirdefeldt, Karin, Woitalla, Dirk, Wszolek, Zbigniew K, Zimprich, Alexander, Brice, Alexis, Chung, Sun Ju, Kim, Mi-Jung, Kim, Young Jin, Ross, Owen A, Xi, Zhengrui, Sleegers, Kristel, Lang, Anthony E, Klein, Christine, Weissbach, Anne, Mellick, George D, Silburn, Peter A, Hadjigeorgiou, Georgios M, Dardiotis, Efthimios, Hattori, Nobutaka, Ogaki, Kotaro, Wauters, Eline, Zhao, Yi, Aasly, Jan, Valente, Enza Maria, Petrucci, Simona, Annesi, Grazia, Quattrone, Aldo, Ferrarese, Carlo, Brighina, Laura, Deutschländer, Angela, Puschmann, Andreas, Gijselinck, Ilse, Nilsson, Christer, Garraux, Gaëtan, LeDoux, Mark S, Pfeiffer, Ronald F, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Maraganore, Demetrius M, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Cras, Patrick, Smolders, Stefanie, Cruts, Marc, Consortium, GEO-PD, Farrer, Matthew J, Aasly, Jan O, Elbaz, Alexis, Ioannidis, John P, Annesi, Grazie, Crosiers, David, Bozi, Maria, Curie, Marie, Carmine-Belin, Andrea, Carr, Jonathan, Carroll, Camille, Chen, Sheng-Di, Cosentino, Carlos, Cresswell, Silke, Corsmit, Ellen, Deutschlaender, Angela, Foroud, Tatiana, Goldwurm, Stefano, Hadjigeorgiou, George, Chartier-Harlin, Marie-Christine, Hassan, Anhar, Hentati, Faycal, Elinck, Ellen, Jeon, Beom Seok, Kawakami, Hideshi, Kim, Yun Joong, Kishore, Asha, Koks, Sulev, Krainc, Dimitri, Krygowska-Wajs, Anna, Lin, Juei-Jueng, Lynch, Tim, Sharma, Manu, Mellick, George, Morrison, Karen E, Munhoz, Renato P, Pastor, Pao, Payami, Haydeh, Pchelina, Sofya N, Petersburg, Saint, Petersen, Maria Skaalum, Theuns, J, Verstraeten, A, Sleegers, K, Wauters, E, Gijselinck, I, Smolders, S, Crosiers, D, Corsmit, E, Elinck, E, Sharma, M, Krüger, R, Lesage, S, Brice, A, Chung, S, Kim, M, Kim, Y, Ross, O, Wszolek, Z, Rogaeva, E, Xi, Z, Lang, A, Klein, C, Weissbach, A, Mellick, G, Silburn, P, Hadjigeorgiou, G, Dardiotis, E, Hattori, N, Ogaki, K, Tan, E, Zhao, Y, Aasly, J, Valente, E, Petrucci, S, Annesi, G, Quattrone, A, Ferrarese, C, Brighina, L, Deutschländer, A, Puschmann, A, Nilsson, C, Garraux, G, Ledoux, M, Pfeiffer, R, Boczarska Jedynak, M, Opala, G, Maraganore, D, Engelborghs, S, De Deyn, P, Cras, P, Cruts, M, Van Broeckhoven, C, Clinical sciences, Neurology, Physiotherapy, Human Physiology and Anatomy, and Pathologic Biochemistry and Physiology

Subjects
Male, Pathology, Parkinson's disease, Internationality, Gastroenterology, Cohort Studies, 0302 clinical medicine, C9orf72, genetics [Parkinson Disease], dna repeat expansion, Amyotrophic lateral sclerosis, Family history, Parkinson Disease/ diagnosis/epidemiology/ genetics, Proteins/ genetics, Medicine(all), 0303 health sciences, Frontotemporal lobar degeneration, Middle Aged, 3. Good health, c9orf72 protein, cohort studies, female, humans, internationality, male, middle aged, parkinson disease, proteins, Neurology, repeat-primed, Proteins/genetics, Cohort studies, Female, epidemiology [Parkinson Disease], diagnosis [Parkinson Disease], medicine.medical_specialty, short tandem repeat, genetics [DNA Repeat Expansion], Article, DNA Repeat Expansion/genetics, 03 medical and health sciences, Internal medicine, medicine, Humans, ddc:610, 030304 developmental biology, DNA Repeat Expansion/ genetics, C9orf72 Protein, business.industry, Parkinson Disease/diagnosis, Proteins, medicine.disease, genetics [Proteins], Genetic epidemiology, Genetic Epidemiology of Parkinson's Disease, Attributable risk, Etiology, Human medicine, Neurology (clinical), C9orf72 protein, human, business, 030217 neurology & neurosurgery
Abstract

Objectives: The objective of this study is to clarify the role of (G 4 C 2 ) n expansions in the etiology of Parkinson disease (PD) in the worldwide multicenter Genetic Epidemiology of Parkinson9s Disease (GEO-PD) cohort. Methods: C9orf72 (G 4 C 2 ) n repeats were assessed in a GEO-PD cohort of 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained in Europe, Asia, North America, and Australia. Results: A pathogenic (G 4 C 2 ) n>60 expansion was detected in only 4 patients with PD (4/7,232; 0.055%), all with a positive family history of neurodegenerative dementia, amyotrophic lateral sclerosis, or atypical parkinsonism, while no carriers were detected with typical sporadic or familial PD. Meta-analysis revealed a small increase in risk of PD with an increasing number of (G 4 C 2 ) n repeats; however, we could not detect a robust association between the C9orf72 (G 4 C 2 ) n repeat and PD, and the population attributable risk was low. Conclusions: Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.

Published
2014

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