Kids with autism may have gene that causes muscle weakness

Apr 13, 2008

Some kids with autism may have a genetic defect that affects the muscles, according to research that will be presented at the American Academy of Neurology 60th Anniversary Annual Meeting in Chicago, April 12–19, 2008.

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.”

Source: American Academy of Neurology

Explore further: Down's chromosome cause genome-wide disruption

add to favorites email to friend print save as pdf

Related Stories

Science denied: Why does doubt persist?

Oct 12, 2012

The sign in front of the tall display case at the Smithsonian Institution's Museum of Natural History lures visitors to "meet one of your oldest relatives." Inside stands a morganucodon, a mouse-like animal ...

Recommended for you

Down's chromosome cause genome-wide disruption

19 hours ago

The extra copy of Chromosome 21 that causes Down's syndrome throws a spanner into the workings of all the other chromosomes as well, said a study published Wednesday that surprised its authors.

Research uncovers DNA looping damage tied to HPV cancer

Apr 16, 2014

It's long been known that certain strains of human papillomavirus (HPV) cause cancer. Now, researchers at The Ohio State University have determined a new way that HPV might spark cancer development – by ...

New therapy against rare gene defects

Apr 15, 2014

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under ...

User comments : 0

More news stories

Unraveling the 'black ribbon' around lung cancer

It's not uncommon these days to find a colored ribbon representing a disease. A pink ribbon is well known to signify breast cancer. But what color ribbon does one think of with lung cancer?

Classifying cognitive styles across disciplines

Educators have tried to boost learning by focusing on differences in learning styles. Management consultants tout the impact that different decision-making styles have on productivity. Various fields have ...

Tiny power plants hold promise for nuclear energy

Small underground nuclear power plants that could be cheaper to build than their behemoth counterparts may herald the future for an energy industry under intense scrutiny since the Fukushima disaster, the ...

Hand out money with my mobile? I think I'm ready

A service is soon to launch in the UK that will enable us to transfer money to other people using just their name and mobile number. Paym is being hailed as a revolution in banking because you can pay peopl ...