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SYDNEY, Feb. 1 (Xinhua) -- A gene linked to performance in elite athletes strongly influences the severity of muscular dystrophy, Australian researchers have found.
Scientists from the Murdoch Childrens Reseach Institute (MCRI) have discovered that alpha-actinin-3 (ACTN3), a gene dubbed the "gene for speed" due to its link with sprint performance ability, is linked to the degree of muscle weakness are rate of disease progression of Duchenne muscular dystrophy (DMD).
DMD is a genetic disorder characterized by progressive muscle degeneration and weakness which is linked to the X-chromosome.
Approximately one in 3,500 males are affected by DMD and one in 50 million females by the disease which, if untreated, renders patients unable to walk in eight to 14 years and can kill them in their 20s due to respiratory failure.
Scientists have often encountered problems in studying the disease in the past due to onset and progression rates varying greatly from patient to patient.
The lack of understanding of DMD has meant that many clinical trials of drugs aimed at slowing the disease have proved inconclusive.
Kathryn North, the director of the MCRI, in 1999 discovered that the absence of ACTN3 gene, which occurs in 20 percent of people, is detrimental to sprint performance but beneficial to endurance athletes.
North said the knowledge of ACTN3 influencing muscle performance formed the basis of the new research, published in Nature Communications on Wednesday, into whether an absence of ACTN3 can influence muscle strength.
"Knowing that ACTN3 significantly influences muscle function at one extreme of peak performance led us to hypothesise that it may also influence muscle strength at the other end of the spectrum, in those with muscle weakness caused by muscle disease," North said in a media release on Wednesday.
"Understanding the role ACTN3 plays in the severity and nature of individual cases of DMD will guide the selection of effective interventions for patients, potentially aiding the generation of new treatments to improve muscle metabolism, bulk and strength."
