Researchers find genetic link between autism and muscle-weakening disease

April 14th, 2008 - 11:55 am ICT by admin  

Washington, April 14 (ANI): Researchers in the US have found a genetic link between autism and a muscle-weakening disorder known as mitochondrial disease.

The study, which looked at 37 children, found that some kids with autism might have a genetic defect that affects the muscles.

According to the researchers, their findings may open new avenues of research into the causes of autism.

The study looked at 37 children with autism spectrum disorders who were evaluated for mitochondrial disease, which causes muscle weakness and prevents a child from being able to participate in physical activities and sports.

Mitochondrial disease occurs when genetic mutations affect the mitochondria, or the part of the cell that releases energy.

A total of 24 of the children, or 65 percent, had defects in the process by which cells produce and synthesize energy in the muscles, or oxidative phosphorylation defects in the skeletal muscles.

Most children with autism spectrum disorders do not have recognizable abnormalities when you look at genetic tests, imaging, and metabolic tests, said study author John Shoffner, MD, owner of Medical Neurogenetics, LLC in Atlanta, GA, and member of the American Academy of Neurology.

But a subset of these children does have significant defects in this area. Identifying this defect is important for understanding how genes that produce autism spectrum disorders impact the function of the mitochondria, he added. (ANI)

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