Key Advance Toward Treatment for Most Common Adult Form of Muscular Dystrophy

piggy submitted, created time 6 days 1 hour (www.sciencedaily.com)

Scientists have identified a promising set of new compounds in the fight against muscular dystrophy.

Using a drug-discovery technique in which molecules compete against each other for access to the target – the strand of toxic RNA that causes the most common form of muscular dystrophy in adults – a team at the University of Rochester Medical Center has identified several compounds that, in the laboratory, block the unwanted coupling of two molecules that is at the root of the disease.
The work was published online November 7 by the Journal of the American Chemical Society.

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Developmental defects in a zebrafish model for muscular dystrophies

kavin submitted, created time 6 months 1 week (www.ncbi.nlm.nih.gov)

In this paper, the authors have found that downregulating FKRP in zebrafish results in embryos that develop a range of abnormalities reminiscent of the developmental defects observed in human muscular dystrophies associated with mutations in FKRP.

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"Three-parent" technique: mitochondrial replacement could prevent muscular dystrophy and epilepsy

Darkfrog submitted, created time 9 months 3 weeks (news.nationalgeographic.com)

It sounds more impressive than it is -- they've replaced the mitochondria, not portions of the somatic DNA.

A team at Newcastle University has constructed ten embryos, presumably viable, that hold DNA from one man and two women. Doctors see this technique as a means by which parents carrying genetic diseases may have their own (mostly) genetic offspring without going all the way to sperm donors, egg donors or surrogates

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Signaling to muscle satellite cells

sumsung submitted, created time 9 months 4 weeks (www.nature.com)

Researchers led by Rita Perlingeiro at the University of Texas Southwestern Medical School, differentiated mouse embryonic stem cells into muscle progenitor cells which restored function when infused into mice with a mouse version of Duchenne's muscular dystrophy, a wasting disease.

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Good News: Stem Cells Overpower Muscle Disease

Pittsburgh scientists identify human source of stem cells with potential to repair muscle

sumsung submitted, created time 1 year 2 months (www.eurekalert.org)

For the first time, scientists at Children's Hospital of Pittsburgh of UPMC have discovered a unique population of adult stem cells derived from human muscle that could be used to treat muscle injuries and diseases such as heart attack and muscular dystrophy.

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New genetic test developed at Emory advances detection and diagnosis of muscular dystrophy

BIOBOSS submitted, created time 1 year 5 months (www.eurekalert.org)

A new genetic test targeting the most common types of muscular dystrophy -- those caused by mutations in the dystrophin gene -- is far quicker with greater accuracy and sensitivity than existing tests. It can be used to confirm clinical diagnoses, to test female family members who may be carriers, and to perform prenatal testing.

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Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy

athena submitted, created time 1 year 6 months (www.jci.org)

"Mutations in LMNA, which encodes nuclear Lamins A and C cause diseases affecting various organs, including the heart. We have determined the effects of an Lmna H222P mutation on signaling pathways involved in the development of cardiomyopathy in a knockin mouse model of autosomal dominant Emery-Dreifuss muscular dystrophy. Analysis of genome-wide expression profiles in hearts using Affymetrix GeneChips showed statistically significant differences in expression of genes in the MAPK pathways at the incipience of the development of clinical disease

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First demonstration of muscle restoration in an animal model of Duchenne muscular dystrophy

daphne submitted, created time 1 year 7 months (www.eurekalert.org)

Using a new type of drug that targets a specific genetic defect, researchers at the University of Pennsylvania School of Medicine, along with colleagues at PTC Therapeutics Inc. and the University of Massachusetts Medical School, have for the first time demonstrated restoration of muscle function in a mouse model of Duchenne's muscular dystrophy (DMD). The research appears ahead of print in an advanced online publication of Nature.

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