IOS PRESS Amsterdam, February 15, 2022 – There is currently no effective treatment for facioscapulohumeral muscular dystrophy (FSHD), one of the most common neuromuscular diseases, which is caused by an abnormal expression of the transcription factor DUX4. Investigators have now identified a novel promising biomarker, interleukin-6 (IL-6), that correlates with the severity of FSHD. This has the...
Tag: <span>muscular dystrophy</span>
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Blocking sphingolipids counteracts muscular dystrophy
by Ecole Polytechnique Federale de Lausanne Staining of a skeletal muscle cross-section showing different types of muscle fiber in young mice. Green: slow-twitch fibers type I; Red: Intermediate fast-twitch fibers type IIA; Purple: Very fast-twitch fibers type IIB; Yellow: Laminin. Credit: Martin Wohlwend (EPFL) EPFL scientists have made the first link between muscular dystrophy and...
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Human microRNA inhibits expression of pathogenic gene underlying facioscapulohumeral muscular dystrophy
by Nationwide Children’s Hospital Fig. 1: miR-675 targets the DUX4 ORF and 3′UTR. a RenLuc-DUX4-FL dual-luciferase reporter and CMV.H19 constructs, and U6.MIR675, H1.MIR675, U6.MIR675-3p, and U6.MIR675-5p miRNAs. RenLuc-DUX4-FL contains DUX4 ORF and 3′UTR sequences fused to Renilla luciferase after the stop codon. Exons 1–3 are indicated (Ex1,2,3). *SD5 indicates silent mutation of a cryptic splice...
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New consensus care guideline will significantly improve quality of life for adults with Duchenne muscular dystrophy
IOS PRESS Amsterdam, December 9, 2021 – Many more adults with Duchenne muscular dystrophy (DMD) are living longer thanks to improvements in treatment, however international standards of care have not yet fully addressed the complex needs of these patients. The Adult North Star Network (ANSI) has developed a set of consensus-based recommendations designed to significantly...
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Researchers identify a crucial gene that triggers congenital muscular dystrophy
by Bielefeld University Impaired vesicular transport in congenital muscular dystrophy CMD. Credit: DOI: 10.15252/emmm.202013787 For the targeted treatment of a disease, information is needed about the course of the disease at molecular and cellular level. This is also true for the group of muscle diseases that include congenital muscular dystrophies (CMD). Bielefeld scientists have been able...
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New therapeutic molecule yields new hope for Duchenne muscular dystrophy patients
by University of Montreal Histopathology of gastrocnemius muscle from patient who died of pseudohypertrophic muscular dystrophy, Duchenne type. Cross section of muscle shows extensive replacement of muscle fibers by adipose cells. Credit: Public Domain A research team led by Nicolas Dumont, a researcher at CHU Sainte-Justine and professor at the Université de Montréal, has discovered...
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New hope for antibody to treat muscular dystrophy
by Marla Paul, Northwestern University Elizabeth McNally, MD, PhD, director of the Center for Genetic Medicine and the Elizabeth J. Ward Professor of Genetic Medicine, was the senior author of the study. Credit: Northwestern University Northwestern Medicine scientists have developed an antibody that they believe can be used to treat muscular dystrophy, findings that were published...
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Stem cell treatments alleviate muscular dystrophy symptoms in compassionate-use study
ALPHAMED PRESS IMAGE: BEATA Ś WIą TKOWSKA-FLIS, M.D., PH.D., NEUROLOGIST, UNIT HEAD AT KMC’S POLISH CENTER FOR CELL THERAPIES AND IMMUNOTHERAPY AND STUDY LEADER. CREDIT: ALPHAMED PRESS Durham, NC – Results of a compassionate-use study released in STEM CELLS Translational Medicine show promising results for treating muscular dystrophies with mesenchymal stem cells (MSCs) derived from Wharton’s jelly...
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Researchers use gene editing to tackle facioscapulohumeral muscular dystrophy
by Florida State University A diagram showing the muscles commonly involved in FSHD. Muscles most frequently involved are shown in pale purple and those with later involvement are shown in blue. Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7. EMBO Mol Med (2021)e13695. Credit: Christopher R S Banerji Peter S Zammit, edited...
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Novel gene editing in mice shows promise in treating Duchenne muscular dystrophy
by Amy Colgan, The Ohio State University Fig. 1: In vitro studies of mdx4cv mutation correction using ABE-NG. From: Efficient precise in vivo base editing in adult dystrophic mice a Genomic DNA, encoded amino acids and guide RNA with PAM (highlighted in blue) sequences at the stop codon mutation site (red). b The reporter construct contains...