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Researchers identify mechanism that triggers a rare type of muscular dystrophy
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Researchers identify mechanism that triggers a rare type of muscular dystrophy

by Autonomous University of Barcelona A study led by the IBB-UAB has identified the molecular mechanism through which a protein carrying genetic mutations associated with limb-girdle muscular dystrophy type 1G accelerates its tendency to form amyloid fibrils and triggers the appearance of the disease. The research, published in Cell Reports, will pave the way for...

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Mutant proteins linked to DNA damage, muscular dystrophy

New Cornell-led research has found a strong connection between DNA damage triggered by mutations in proteins that surround the cell nucleus, known as lamins, and muscular dystrophy. By exploring the mechanisms that cause the damage, the researchers are hopeful their discovery can help shape better treatments. The team’s paper, “Mutant Lamins Cause Nuclear Envelope Rupture...

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Gene therapy for Duchenne muscular dystrophy safely preserves muscle function

by Perelman School of Medicine at the University of Pennsylvania A gene therapy being developed at Penn Medicine to treat Duchenne muscular dystrophy (DMD) successfully and safely stopped the severe muscle deterioration associated with the rare, genetic disease in both small and large animal models, according to a first-of-its-kind study from Penn Medicine researchers. The...

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Cheaper drug just as effective protecting heart in duchenne muscular dystrophy

OHIO STATE UNIVERSITY WEXNER MEDICAL CENTER COLUMBUS, Ohio – A new clinical trial conducted at The Ohio State University Wexner Medical Center found a cost-effective generic medication works just as well as a more expensive drug in preserving cardiovascular function in boys with Duchenne muscular dystrophy (DMD). Results of this multi-center trial are in today’s...

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Research discovers inhibitor to reverse toxic DUX4 effects

by University of Minnesota About one in 8,000 people have facioscapulohumeral muscular dystrophy, according to a 2014 study, which is relatively common in the world of genetic diseases. New University of Minnesota Medical School research identifies an inhibitor that protects cells from toxic effects associated with this disease in cells and mice. Facioscapulohumeral muscular dystrophy...

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Researchers give new insight to muscular dystrophy patients

New research by University of Minnesota scientists has revealed the three-dimensional structure of the DUX4 protein, which is responsible for the disease, facioscapulohumeral muscular dystrophy (FSHD). Unlike the majority of genetic diseases, FSHD is not caused by a protein that is missing or not functioning properly. Rather it is caused when a functioning, normal, protein...

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Tamoxifen and raloxifene slow down the progression of muscular dystrophy

Long-term treatment with selective estrogen receptor modulators (SERMs) improves muscle, respiratory, and skeletal function without weakening bone in new mouse studies, according to a new report in The American Journal of Pathology Philadelphia, March 20, 2018 – Steroids are currently the only available treatment to reduce the repetitive cycles of inflammation and disease progression associated...

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Scientists discover ‘internal clock’ inside human cells – paving the way to understanding diseases like muscular dystrophy and cancer

Scientists have found first ‘physical’ measure of a cell’s life stage Method will help researchers study ongoing changes in cells  Findings could shed light on muscular dystrophy and cardiomyopathy  Researchers have discovered the ‘internal clock’ of cells – breaking new ground to understand how diseases take hold of the body. Previously, the biological clock we...

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