Quest Magazine

Dogs with ALS

Researchers at several institutions in the United States and Sweden have found that a mutation in the gene for superoxide dismutase 1 (SOD1), known to cause ALS (amyotrophic lateral sclerosis) in 1 percent to 3 percent of human cases, also can cause an ALS-like disease in dogs.

These dogs are the first spontaneously occurring animal model of ALS discovered, the researchers say in their paper, published online Feb. 2 in Proceedings of the National Academy of Sciences.

CMT Research Network

In January, MDA began funding development of the North American CMT Network to provide an infrastructure for clinical research in Charcot-Marie-Tooth disease (CMT) and aid researchers in locating potential participants for clinical studies.

An early goal of the network is to establish scoring systems for functional evaluations in children with CMT.

Valproic Acid in SMA

Preliminary results in the phase 2 study of valproic acid and carnitine in children with types 2 and 3 spinal muscular atrophy (SMA) suggest the treatment may have improved function in children younger than age 3 who were not walking at study entry. However, there was no benefit of the drug treatment when a larger group that included children ages 2 to 8 who were not walking was compared with a placebo (inactive substance) group.

George Karpati: "He Was a Giant"

Neurologist and neuroscientist George Karpati, a longtime MDA research grantee at the Montreal Neurological Institute, passed away suddenly on Feb. 6, 2009. He was 74.

Karpati was one of the world's leading authorities on the diagnosis and treatment of muscular dystrophy. He held the I.W. Killam Chair and was a professor of neurology and neurosurgery at McGill University in Montreal (the Montreal Neurological Institute is part of McGill).

UK Trial: 'Robust Response' to Exon-Skipping Compound Seen

On Jan. 21, AVI BioPharma of Portland, Ore., announced its experimental compound AVI4658 for the treatment of Duchenne muscular dystrophy (DMD) yielded promising results in a phase 1 clinical trial in the United Kingdom.

EDMD Research: Lamin Defects

Mutations in the lamin A/C gene on chromosome 1 and the emerin gene on the X chromosome both can cause Emery-Dreifuss muscular dystrophy (EDMD), but the precise mechanisms by which they do so are still being identified.

Now, a multinational team has found that, in mice with an EDMD-like disease, lamin protein defects interfere with the way cell nuclei normally localize in skeletal-muscle fibers at the point where each fiber receives signals from a nerve cell.

SMA Research: Back to the Beginning

In a development that could lead to better screening of drugs for spinal muscular atrophy (SMA), skin cells from a child with SMA1 have been "reprogrammed" back to a stemlike state and then coaxed to develop into SMA-affected motor neurons, the nerve cells that normally control muscle movement but malfunction and die in this disease.

$ for College

Ten $1,000 scholarships for high school seniors and college students whose parents have disabilities are being offered nationwide by the National Center for Parents with Disabilities and their Families (NCPDF).

The scholarships will be awarded in fall of 2009. Applications must be completed and postmarked by March 16.

NCPDF is the national agency of Through the Looking Glass, a San Francisco-area philanthropic organization.

DMD/BMD Reseach: Minidystrophin Gene

A promising “minidystrophin gene” that restores normal muscle force to skeletal and diaphragm muscles in mice with a disease resembling Duchenne muscular dystrophy (DMD) seems to be only partially effective at restoring strength and function to heart muscles.

DMD Research: Another Dystrophin Stand-In?

Delivering the gene for the missing dystrophin protein to the muscles of children and young men with Duchenne muscular dystrophy (DMD) is one of several therapeutic avenues under intense investigation in this disease. However, the strategy has technical drawbacks, and some experts worry that introduction of a previously absent protein could provoke a dangerous immune response.

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