Discovery opens door to therapeutic development for FSH muscular dystrophy
August 18, 2010 by admin · Leave a Comment
Scientists are closer to understanding what triggers muscle damage in one of the most common forms of muscular dystrophy, called facioscapulohumeral muscular dystrophy (FSHD).
FSHD affects about 1 in 20,000 people, and is named for progressive weakness and wasting of muscles in the face, shoulders and upper arms. Although not life-threatening, the disease is disabling. The facial weakness in FSHD, for example, often leads to problems with chewing and speaking.
Heart drug effective for treating symptom of muscular dystrophy
May 3, 2010 by admin · Leave a Comment
Contact: Tom Rickey
tom_rickey@urmc.rochester.edu
585-275-7954
University of Rochester Medical Center
A medication most often used to treat heart arrhythmias also reduces a central symptom of myotonic dystrophy, the most common type of muscular dystrophy in adults.
Researchers prove the gene responsible for Duchenne muscular dystrophy can be repaired
April 14, 2010 by admin · Leave a Comment
Contact: Jean-François Huppé
jean-francois.huppe@dc.ulaval.ca
418-656-7785
Université Laval
Targeted gene therapy beneficial to mice with spinal muscular atrophy
Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation
Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by progressive muscle wasting and weakness. The severity of the disease varies between individuals, with the clinical spectrum ranging from early infant death to normal adult life with only mild weakness. Currently, there are no effective therapies. As SMA is caused by mutations in the SMN1 gene that result in a lack of SMN protein, gene therapy provides one possible treatment strategy. Marco Passini and colleagues, at Genzyme Corporation, Framingham, now provide hope that this therapeutic approach might one day be possible by showing that in a severe mouse model of SMA they can substantially improve muscle strength, coordination, and locomotion by injecting the gene-carrying therapeutic directly into the brain and spinal cord of newborn mice. Read more
Researchers trace effects of genetic defect in myotonic muscular dystrophy
January 23, 2010 by admin · Leave a Comment
Contact: Tim Stephens
stephens@ucsc.edu
831-459-2495
University of California - Santa Cruz
SANTA CRUZ, CA–Research on the genetic defect that causes myotonic muscular dystrophy has revealed that the mutation disrupts an array of metabolic pathways in muscle cells through its effects on two key proteins. A study published in Nature Structural & Molecular Biology shows that the loss of a single protein accounts for most of the molecular abnormalities associated with the disease, while loss of a second protein also seems to play an important role.
Identification of the gene responsible for a new form of adult muscular dystrophy
January 20, 2010 by admin · Leave a Comment
Contact: Nathalie Forgue
514-890-8000 x14342
Centre hospitalier de l’Université de Montréal
Montreal, Canada, January 21, 2010 A study published in today’s online edition the American Journal of Human Genetics, allowed the first identification of a new form of adult onset muscular dystrophy. The research team led by Dr. Bernard Brais, neurogeneticist at the Research Centre of the Centre hospitalier de l’Université de Montréal (CRCHUM) and associate professor, Université de Montréal, in collaboration with European collaborators, demonstrated that recessive ANO5 mutations will lead to abnormal membrane repair of muscle fibers.
‘Jekyll and Hyde’ cell may hold key to muscular dystrophy, fibrosis treatment: UBC research
January 17, 2010 by admin · Leave a Comment
Contact: Brian Lin
brian.lin@ubc.ca
604-822-2234
University of British Columbia
A team of University of British Columbia researchers has identified fat-producing cells that possess “dual-personalities” and may further the development of treatments for muscle diseases such as muscular dystrophy and fibrosis.
Investigators identify gene mutations in patients with Becker muscular dystrophy
January 12, 2010 by admin · Leave a Comment
Contact: Mary Ellen Peacock
MaryEllen.Peacock@NationwideChildrens.org
614-355-0495
Nationwide Children’s Hospital
Investigators in The Research Institute at Nationwide Children’s Hospital have identified a link between specific modifications of the dystrophin gene and the age of cardiac disease onset in patients with Becker muscular dystrophy (BMD). This information could help clinicians provide early cardiac intervention for BMD patients based on genetic testing results performed on a blood sample. These findings are a result of analysis of the largest number of BMD patients to date and are published in the December issue of the journal Circulation: Cardiovascular Genetics.
Mice holding back muscular dystrophy research
December 2, 2009 by admin · Leave a Comment
Contact: Graeme Baldwin
graeme.baldwin@biomedcentral.com
44-020-319-22165
BioMed Central
Humans and mice have previously unknown and potentially critical differences in one of the genes responsible for Duchenne muscular dystrophy (DMD). Researchers writing in the open access journal BMC Biology have found that two major features of a key DMD gene are present in most mammals, including humans, but are specifically absent in mice and rats, calling into question the use of the mouse as the principal model animal for studying DMD.
Exon-skipping drug prevents muscle wasting, maintains muscle function in dystrophin deficient mice
October 20, 2009 by admin · Leave a Comment
New publication in Molecular Therapy outlines dramatic effects in animals treated with splice switching PPMO, demonstrates promise for treatment of Duchenne muscular dystrophy
Oxford, United Kingdom & Bothell, WA, USA — October 20, 2009 — An exon skipping PPMO has demonstrated dramatic effects in the prevention and treatment of severely affected, dystrophin and utrophin-deficient mice, preventing severe deterioration of the treated animals and extending their lifespan. These findings were published online today in the journal Molecular Therapy and support the promise of this therapeutic approach for the treatment of Duchenne muscular dystrophy (DMD). These results were published by researchers at University of Oxford, AVI BioPharma, Inc. (Nasdaq: AVII) and the University of Western Australia, Perth.
