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This article discusses the potential role of the glymphatic system in the propagation of prion proteins, such as tau and α-synuclein, which are associated with neurodegenerative diseases. The glymphatic system is responsible for clearing toxic proteins from the brain, and its dysfunction has been implicated in Parkinson's disease. The study used a mouse model to investigate the impact of α-synuclein aggregation on glymphatic function and found that the expression of aquaporin-4 (AQP4) and associated proteins in the glymphatic system was reduced when α-synuclein fibrils were directly injected, but increased when endogenous α-synuclein propagated. Inhibiting glymphatic function led to reduced clearance of α-synuclein and exacerbated pathology and motor deficits in mice. These findings suggest that glymphatic dysfunction and dysregulation of AQP4 may contribute to Parkinson's disease. [Extracted from the article]

This article discusses the role of Dystroglycan, a cell adhesion molecule, in inhibitory synapse formation and maintenance in cerebellar Purkinje cells. The study found that Dystroglycan is necessary for the development and function of synapses between cerebellar molecular layer interneurons and Purkinje cells. The researchers also discovered that both extracellular and intracellular interactions of Dystroglycan are required for synapse function, while only extracellular interactions are necessary for synapse formation. These findings provide molecular insights into the mechanisms of inhibitory synapse formation and maintenance in the cerebellar cortex. [Extracted from the article]

A new report from the University of Bonn discusses findings on myopathy, a muscle disorder. The research focuses on a specific mutation in the Ji-DG gene, which causes muscle-eye-brain disease in humans. In a mouse model, the mutation leads to embryonic lethality, myopathy, and destabilization of the blood-brain barrier. The study provides valuable insights into the molecular effects of this mutation and the pathogenesis of primary dystroglycanopathies. [Extracted from the article]

A recent research article from the Instituto Nacional de Rehabilitacion in Mexico discusses the various types of muscular dystrophies (MDs), which are genetic diseases characterized by muscle degeneration and weakness. The article highlights the importance of interdisciplinary management for MD patients, as these diseases can lead to complications affecting the heart and respiratory system. Currently, pharmacological therapy is only available for the most common type of MD, Duchene muscular dystrophy (DMD), and alternative treatments for MDs caused by alterations in dystrophin-associated proteins (DAPs) are limited. The article explores potential pharmacological treatments and therapeutic targets for these less common MDs, focusing on drugs and molecules that have shown beneficial effects in experimental models. The researchers suggest that these treatments could improve muscle function in MD patients until a definitive treatment is developed. [Extracted from the article]

Researchers from Atrium Health in Charlotte, North Carolina have published a report on the complexity and inconsistency between levels of matriglycan and disease phenotype in Fkrp-related dystroglycanopathies. Dystroglycanopathies are a group of muscle degenerative diseases characterized by a reduction in matriglycan expression. The researchers found that missense point mutations in the Fukutin-related protein (FKRP) gene can cause variable reduction in matriglycan synthesis and a wide range of disease severity. They propose using a Multi Point tool from ImageJ to more accurately measure matriglycan expression on fiber membrane for assessing mutant FKRP function and therapeutic efficacy. The research concludes that a robust and sensitive immunohistochemical protocol would further improve reliability and comparability for the detection of matriglycan. [Extracted from the article]

Researchers from Radboud University Medical Center have conducted a single case study on the effects of oral ribose supplementation in a patient with limb girdle muscular dystrophy type 2I (LGMD2I) due to a homozygous FKRP mutation. The study found that ribose supplementation was well tolerated and resulted in a decrease in creatine kinase levels and an increase in CDP-ribitol levels. While objective improvement in clinical and patient-reported outcome measures was not observed, the patient reported subjective improvement in muscle strength, fatigue, and pain. The study suggests that ribose supplementation in patients with dystroglycanopathy is safe and warrants further investigation. [Extracted from the article]

A recent study conducted by researchers at Oregon Health & Science University (OHSU) explores the role of Dystroglycan, a transmembrane glycoprotein, in dystroglycanopathy, a type of congenital muscular dystrophy. The study found that mutations in Dystroglycan or the genes involved in its glycosylation can lead to a wide range of phenotypes, including muscle weakness, brain defects, and cognitive impairment. The researchers investigated the development of interneurons, synaptic function, and seizure susceptibility in mouse models of dystroglycanopathy. They discovered that inhibitory synaptic defects and increased seizure susceptibility are characteristic of severe dystroglycanopathy, highlighting the importance of Dystroglycan in organizing functional inhibitory synapse assembly. [Extracted from the article]

A recent study conducted at Qazvin University of Medical Sciences in Iran focused on limb-girdle muscular dystrophy (LGMD), a muscle disease characterized by weakness in the shoulder and pelvic girdle. The study aimed to determine the genetic diversity and frequency of different forms of LGMD in Iranian children. The researchers analyzed data from 41 patients and found that alpha and beta sarcoglycanopathy were the most prevalent phenotypes. The severity of clinical involvement was found to be predicted by SGCB gene mutation and sarcoglycan expression. This research provides valuable insights into the clinical and genetic characteristics of LGMD in Iranian patients. [Extracted from the article]

The University of Iowa Research Foundation has been issued a patent for compositions and methods for the treatment and prevention of muscular dystrophy. Muscular dystrophies are a group of diseases characterized by muscle weakness and dystrophic muscle. The most common and severe form is Duchenne muscular dystrophy (DMD), which is caused by defects or absence of the protein dystrophin. Current treatments for DMD involve glucocorticoids, but they have significant side effects. The patent describes a method of treating muscular dystrophy by administering an AT2 receptor agonist. The invention also includes a composition comprising the AT2 receptor agonist for the treatment of muscular dystrophy and its associated complications. [Extracted from the article]

A recent study conducted by researchers from Peking University First Hospital focused on the clinical and genetic interpretation of uncertain missense variants in Duchenne muscular dystrophy (DMD). The researchers aimed to determine whether these variants would cause abnormal splicing and re-evaluate their pathogenicity based on mRNA and protein studies. The study involved nine patients with elevated serum creatine kinase levels and muscle weakness. Through genetic testing and muscle-derived mRNA and protein studies, the researchers found that three patients had DMD splicing variants and were diagnosed with DMD, while six patients had confirmed DMD missense variants and were diagnosed with Becker muscular dystrophy (BMD). The study emphasizes the importance of muscle biopsy and aberrant splicing in interpreting uncertain DMD missense variants. [Extracted from the article]

A recent preprint abstract discusses the molecular basis of proteolytic cleavage regulation by the extracellular matrix receptor dystroglycan. The dystrophin glycoprotein complex, anchored by dystroglycan, plays a crucial role in connecting the extracellular matrix to the actin cytoskeleton. Mutations in dystrophin or impaired glycosylation of dystroglycan are associated with diseases like Muscular Dystrophy. The study reveals the structure of the membrane-adjacent domain of dystroglycan and how it regulates proteolysis by matrix metalloproteinases. Disruption of proteolysis leads to altered cellular mechanics and migration, highlighting its relevance in disease pathogenesis and potential therapeutic avenues for dystroglycanopathies. [Extracted from the article]

Researchers at Rutgers University Robert Wood Johnson Medical School have conducted a study on the genetic basis of severe congenital muscular dystrophies (CMD) in Egypt. The study aimed to determine the efficacy of whole exome sequencing (WES)-based genetic diagnosis in this population. The researchers identified likely pathogenic variants in certain genes associated with CMD, reaching a diagnostic rate of 86% for dystroglycanopathies and 100% for merosinopathy. The study highlights the importance of WES as a diagnostic method in developing countries for improving the diagnostic rate, management plan, and genetic counseling for CMD. [Extracted from the article]

A recent study published in Genomics & Genetics Weekly explores the modulation of Salmonella virulence by a novel SPI-2 injectisome effector called SseM. The researchers used a proteomic approach to analyze the secretome of a clinical strain of invasive non-typhoidal Salmonella enterica serovar Enteritidis and discovered the SseM protein. SseM was found to interact with components of the dystrophin-associated protein complex (DAPC) in human cells. The study also found that a mutant strain lacking SseM had a slight advantage over the wild-type strain in a mouse model of systemic disease. However, this advantage was complemented by a plasmid expressing wild-type SseM. Further research is needed to fully understand the role of SseM in Salmonella virulence. [Extracted from the article]

A recent preprint study discusses a missense mutation in the beta-dystroglycan gene that leads to reduced levels of dystroglycan protein, resulting in myopathy and destabilization of the blood-brain and blood-retinal barrier protein network. The study used a mouse model to investigate the mechanisms underlying this pathology and found that the mutant mice showed myopathy and impaired performance on an activity wheel. While the mouse model did not fully replicate the severe developmental phenotypes observed in human patients, it provided valuable insights into the functional changes of beta-dystroglycan and the pathogenesis of primary dystroglycanopathies. Please note that this study has not yet undergone peer review. [Extracted from the article]

For example, it is imperative to further improve the efficacy and safety of tissue-targeted gene therapy applications for LGMD2E, ideally by developing more robust gene therapy vectors that allow for high and widespread diaphragm, smooth muscle, heart and skeletal muscle-specific expression, preferably diaphragm, heart and skeletal muscle-specific expression, of the therapeutic b-sarcoglycan transgene (b-SG) at lower and thus safer vector doses." The nucleic acid regulatory element according to claim 1 comprising at least: a) the diaphragm-specific regulatory consisting of the nucleotide sequence set forth in SEQ ID NO:4 (e.g. Dph-CRE06) or a functional fragment thereof; b) the heart- and skeletal muscle-specific regulatory element consisting of the nucleotide sequence set forth in SEQ ID NO:1 (e.g. CSk-SH5) or a functional fragment thereof; and c1) either the diaphragm-specific regulatory elements consisting of the nucleotide sequence set forth in SEQ ID NO:2 (e.g. Dph-CRE02) or a functional fragment thereof, or c2) the diaphragm-specific regulatory element consisting of the nucleotide sequence set forth in SEQ ID NO:3 (e.g. Dph-CRE04) or a functional fragment thereof, or c3) both diaphragm-specific regulatory elements of c1) and c2). [Extracted from the article]

ATPase, Atrophic Muscular Disorders, Contractile Proteins, Enzymes and Coenzymes, Health and Medicine, Inflammation, Membrane Glycoproteins, Dystrophin-Associated Proteins, Membrane Proteins, Muscular Diseases and Conditions, Muscular Dystrophies, Muscular Dystrophy, Musculoskeletal Diseases and Conditions, Nervous System Diseases and Conditions, Neuromuscular Diseases and Conditions, Sarcoglycans Keywords: ATPase; Atrophic Muscular Disorders; Contractile Proteins; Dystrophin-Associated Proteins; Enzymes and Coenzymes; Health and Medicine; Inflammation; Membrane Glycoproteins; Membrane Proteins; Muscular Diseases and Conditions; Muscular Dystrophies; Muscular Dystrophy; Musculoskeletal Diseases and Conditions; Nervous System Diseases and Conditions; Neuromuscular Diseases and Conditions; Sarcoglycans EN ATPase Atrophic Muscular Disorders Contractile Proteins Dystrophin-Associated Proteins Enzymes and Coenzymes Health and Medicine Inflammation Membrane Glycoproteins Membrane Proteins Muscular Diseases and Conditions Muscular Dystrophies Muscular Dystrophy Musculoskeletal Diseases and Conditions Nervous System Diseases and Conditions Neuromuscular Diseases and Conditions Sarcoglycans 1294 1294 1 06/26/23 20230630 NES 230630 2023 JUN 30 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Investigators publish new report on muscular dystrophy. [Extracted from the article]

Keywords for this news article include: Seongnam, South Korea, Asia, Asia, Atrophic Muscular Disorders, Contractile Proteins, Dystroglycans, Dystrophin-Associated Proteins, Genetics, Health and Medicine, Membrane Proteins, Muscular Diseases and Conditions, Muscular Dystrophies, Muscular Dystrophy, Musculoskeletal Diseases and Conditions, Nervous System Diseases and Conditions, Neuromuscular Diseases and Conditions, Pediatrics, Seoul National University. Keywords: Seongnam; South Korea; Asia; Atrophic Muscular Disorders; Contractile Proteins; Dystroglycans; Dystrophin-Associated Proteins; Genetics; Health and Medicine; Membrane Proteins; Muscular Diseases and Conditions; Muscular Dystrophies; Muscular Dystrophy; Musculoskeletal Diseases and Conditions; Nervous System Diseases and Conditions; Neuromuscular Diseases and Conditions; Pediatrics EN Seongnam South Korea Asia Atrophic Muscular Disorders Contractile Proteins Dystroglycans Dystrophin-Associated Proteins Genetics Health and Medicine Membrane Proteins Muscular Diseases and Conditions Muscular Dystrophies Muscular Dystrophy Musculoskeletal Diseases and Conditions Nervous System Diseases and Conditions Neuromuscular Diseases and Conditions Pediatrics 1193 1193 1 06/19/23 20230623 NES 230623 2023 JUN 23 (NewsRx) -- By a News Reporter-Staff News Editor at Pediatrics Week -- Investigators publish new report on Musculoskeletal Diseases and Conditions - Muscular Dystrophy. [Extracted from the article]

Cardiology, Cardiovascular Diseases and Conditions, Contractile Proteins, Dystrophin-Associated Proteins, Dystroglycans, Health and Medicine, Heart Disease, Heart Disorders and Diseases, Heart Failure, Membrane Proteins Keywords: Cardiology; Cardiovascular Diseases and Conditions; Contractile Proteins; Dystroglycans; Dystrophin-Associated Proteins; Health and Medicine; Heart Disease; Heart Disorders and Diseases; Heart Failure; Membrane Proteins EN Cardiology Cardiovascular Diseases and Conditions Contractile Proteins Dystroglycans Dystrophin-Associated Proteins Health and Medicine Heart Disease Heart Disorders and Diseases Heart Failure Membrane Proteins 1525 1525 1 06/12/23 20230612 NES 230612 2023 JUN 12 (NewsRx) -- By a News Reporter-Staff News Editor at Cardiovascular Week -- Data detailed on heart failure have been presented. [Extracted from the article]

Contractile Proteins, Dystrophin-Associated Proteins, Epidemiology, Health and Medicine, Membrane Glycoproteins, Membrane Proteins, Psychosocial, Sarcoglycans Keywords for this news article include: University of Padova, Padova, Italy, Europe, Epidemiology, Psychosocial, Sarcoglycans, Membrane Proteins, Health and Medicine, Contractile Proteins, Membrane Glycoproteins, Dystrophin-Associated Proteins. Keywords: Contractile Proteins; Dystrophin-Associated Proteins; Epidemiology; Health and Medicine; Membrane Glycoproteins; Membrane Proteins; Psychosocial; Sarcoglycans EN Contractile Proteins Dystrophin-Associated Proteins Epidemiology Health and Medicine Membrane Glycoproteins Membrane Proteins Psychosocial Sarcoglycans 1739 1739 1 04/17/23 20230421 NES 230421 2023 APR 21 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Investigators discuss new findings in membrane glycoproteins. [Extracted from the article]

Our news correspondents obtained a quote from the research from Mayo Clinic: "GMPPB-related disorders are inherited in an autosomal recessive manner and caused by mutations in either a homozygous or compound heterozygous state. The clinical spectrum of GMPPB-related disorders spans from severe congenital muscular dystrophy (CMD) with brain and eye abnormalities to mild forms of limb-girdle muscular dystrophy (LGMD) to recurrent rhabdomyolysis without overt muscle weakness. [Extracted from the article]