Other Myopathies

CCD Research Mouse Sheds New Light on Human Disease

Since 1993 — when mutations in the RYR1 gene were first linked to central core disease (CCD)— researchers have been trying to figure out exactly how these mutations cause the disease and what can be done to combat their deleterious effects.

Now, investigators in the United States, Canada and Germany have added an important piece to the CCD puzzle, through careful studies of mice with a particular mutation in the RYR1 gene that commonly causes human CCD.

Biobank Collecting Blood Samples for Neuromuscular Disease Research

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Gene ID'd for Type 6 Nemaline Myopathy

A research group has identified specific mutations in a gene on chromosome 15 called KBTBD13 that cause a type of nemaline myopathy (NM), a disease in which thread- or rod-like ("nemaline") material forms clumps in affected muscle.

The newly identified mutations cause type 6 NM. A number of mutations in genes associated with other subtypes of the disease already have been identified.

Does Spirituality Influence Acceptance of Disability?

With approximately 54 million Americans living with disabilities, exploring and understanding factors that might facilitate or hinder acceptance of one’s disability may be an important area of research.

But what exactly is the relationship between religious/spiritual attitudes and acceptance or lack of acceptance of disability for people with neuromuscular disorders?

Study Seeks People With Uncertain MD Diagnoses

A study to determine the early features of late-onset Pompe disease (acid maltase deficiency) is seeking 250 adults who have a clinical diagnosis of unclassified limb-girdle muscular dystrophy (LGMD), an uncertain diagnosis of other forms of muscular dystrophy (MD),or an unclassified myopathy(muscle disease)who do not carry any biochemical, metabolic, enzymatic, serologic (blood), molecular or pathologic diagnostic marker that confirms their diagnosis.

MDA Awards More Than $14 Million in Research Grants

MDA has awarded 38 new research grants totaling more than $14 million and covering more than a dozen neuromuscular diseases. 

MDA's Board of Directors met in Los Angeles July 16, where it reviewed and approved the new grants based on recommendations from the MDA Scientific and Medical Advisory Committees. Grants were scored and recommended for approval based on the capabilities of the applicant, the scientific merit of the project, and the proposal's relevance to developing treatments for the disease. The effective start date for all grants was July 1, 2010.

Research Briefs: ALS, DMD, MTM and SMA

Duchenne muscular dystrophy

Acceleron Pharma announced Aug. 4 that it has received fast track designation from the U.S. Food and Drug Administration (FDA) for its experimental compound ACE031 for the treatment of Duchenne muscular dystrophy (DMD). ACE031 is designed to interfere with the actions of myostatin, a protein that inhibits muscle growth.

MTM: Unlocking Muscle Fibers to Myotubularin

MDA-supported researchers at 4s3 Bioscience, a biotechnology company in Medford, Mass., are using a new molecular strategy to transport a potentially therapeutic protein into muscles, as an experimental treatment for X-linked myotubular myopathy (MTM), a genetic muscle disease that's generally fatal in infancy.

The treatment will be tested in a mouse model of MTM. These mice do not make myotubularin and display signs and symptoms similar to those in humans with X-linked MTM.

Causative Gene Mutations ID'd for Two Muscle Diseases

An MDA-supported, multinational team of researchers from Canada and Europe has identified specific mutations in the anoctamin 5 (ANO5) gene on chromosome 11 that can cause type 2L limb-girdle muscular dystrophy (LGMD2L) and type 3 Miyoshi myopathy.

Potassium Channel Mutations Underlie TPP

The rare condition thyrotoxic hypokalemic periodic paralysis, or TPP, causes people with normal muscle strength to experience episodes of paralysis and weakness. Until recently, TPP was known to be associated with attacks of high thyroid hormone secretion (thyrotoxicosis), but new information shows that in some cases the condition also has a genetic component -- mutations in a newly identified potassium channel that helps control the flow of potassium ions into and out of muscle fibers.

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