FDA Denies Approval for Duchenne Muscular Dystrophy Drug FDA Denies Approval for Duchenne Muscular Dystrophy Drug
The FDA has nixed approval of golodirsen injection for the treatment of Duchenne muscular dystrophy, citing concerns over risk for infusion port infections and possible renal toxicity.Medscape Medical News
Publication date: Available online 20 September 2019Source: Journal of Cardiology CasesAuthor(s): Josef Finsterer
No abstract available
Texas A&M University will stop breeding canines onsite to have the genetic disease duchenne muscular dystrophy, which eventually leaves sufferers unable to walk.
Becker muscular dystrophy (BMD, OMIM 300376) is an X-linked recessive form of muscular dystrophy caused by mutations in the dystrophin gene (DMD), which is located on chromosome Xp21.2 . The DMD gene is the largest gene identified in humans and contains 79 exons. Mutations in the gene result in a deficient dystrophin protein . BMD is typically associated with mutations that maintain the open reading frame, producing an internally altered but partially functional dystrophin protein, with an intact C terminal domain [3,4].
Dysferlin is encoded by the DYSF gene on chromosome 2p13 as a protein of approximately 237 kDa. Dysferlin is widely expressed, but it predominates at the sarcolemma of striated muscle  where it is involved in membrane repair [2,3], regeneration  and differentiation . Mutations in DYSF cause the autosomal recessive muscular disorders limb girdle muscular dystrophy R2 (LGMDR2 dysferlin-related, formerly LGMD2B, OMIM 253601), Miyoshi Myopathy (OMIM 254130), distal myopathy with anterior tibial onset (OMIM 606768) and congenital muscular dystrophy [1,6 –8].
PMID: 31513275 [PubMed - as supplied by publisher]
Publication date: Available online 9 September 2019Source: Stem Cell ResearchAuthor(s): Jelinkova Sarka, Markova Lenka, Pesl Martin, Valáškova Iveta, Makaturová Eva, Jurikova Lenka, Vondracek Petr, Lacampagne Alain, Dvorak Petr, C. Meli Albano, Rotrekl VladimirAbstractDuchenne muscular dystrophy (DMD) affects 1:3500–5000 newborn boys and manifests with progressive skeletal muscle wasting, respiratory failure and eventual heart failure. Symptoms show different onset from patients' childhood to the second decade of age. We reprogrammed fibroblasts from two independent DMD patients with a complete l...
Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function. As molecularly ta...
The nation’s capital will host the world’s premier conferences on facioscapulohumeral muscular dystrophy for all stakeholders(PRWeb September 10, 2019)Read the full story at https://www.prweb.com/releases/fshd_society_announces_2020_international_research_congress_and_connect_conferences/prweb16555337.htm
AbstractThe need for a reliable and accurate method to quantify dystrophin proteins in human skeletal muscle biopsies has become crucial in order to assess the efficacy of dystrophin replacement therapies in Duchenne muscular dystrophy as well as to gain insight into the relationship between dystrophin levels and disease severity in Becker's muscular dystrophy. Current methods to measure dystrophin such as western blot and immunofluorescence, while straightforward and simple, lack precision and sometimes specificity. Here we standardized a targeted mass spectrometry method to determine the absolute amount of dystrophin in ...