Navigation Links
Muscle Weakness Found in Some Autistic Children

Genetic defect in mitochondria might explain other aspects of the disorder, researcher says

SUNDAY, April 13 (HealthDay News) -- New research suggests that muscle weakness in a child with autism may point to an underlying genetic defect that's causing mitochondrial disease, which means the muscles don't get the energy they need.

Conversely, it's possible that the mitochondrial disease may also play a role in the development of autism, perhaps by preventing the brain from getting the energy it needs to perform properly, the researchers noted.

"In large studies of kids with autism, about 20 percent have markers of mitochondrial disease in the blood," explained Dr. John Shoffner, an associate professor of biology at Georgia State University and president of Medical Neurogenetics.

Shoffner recently completely a retrospective analysis of 37 children with autism spectrum disorders and found that 65 percent of these children -- children who had been referred to him because their doctors suspected additional problems -- had mitochondrial defects.

He was expected to present the findings April 13 at the American Academy of Neurology's annual meeting, in Chicago.

Mitochondria are found in every cell of the body, with the exception of red blood cells, according to the United Mitochondrial Disease Foundation (UMDF). Mitochondria are vital to survival, because they make oxygen available to cells and metabolize food into energy for cells to thrive. Defects in mitochondria can lead to cell injury, or even cell death, according to UMDF.

Symptoms of mitochondrial disease depend on which body system is affected but may include muscle weakness, loss of muscle control, poor growth, heart disease, diabetes, developmental delays, an increased risk of infection and more.

Shoffner said that the mitochondrial energy production system is the only one in the body that requires two genomes to work -- genes inherited from both the mother and the father, and genes exclusively from the mother. "To make this system work, it requires a lot of genes. Hence the opportunity for lots of problems," said Shoffner, who added that there are several hundred known mitochondrial disorders.

Twenty-four (65 percent) of the children included in this study had genetic defects in their skeletal muscles. However, that doesn't mean that 65 percent of children with autism likely have mitochondrial disease. This was a select population of kids with autism, ones that had specifically been referred, because their doctors suspected a problem.

But, Shoffner pointed out that as many as one in five youngsters with autism spectrum disorders have shown signs of mitochondrial disease.

"If you're talking about 20 percent of kids with autism, that's a whole lot of children, and may represent an important segment of the autism spectrum disorder population. And we may be getting a foothold into the underlying cause of autism spectrum disorders," he said, adding, "This is a really important step forward that lets us put effort into understanding the mechanisms of disease."

"This study is a call to action. We need to know what is the real prevalence of mitochondrial conditions in children with autism," said Geraldine Dawson, chief science officer for Autism Speaks. "The more we can identify these subgroups of kids, the more we're going to parse apart the many forms of autism. This gives us clues to etiology."

"If we find that mitochondrial disease is a prevalent condition, having a better understanding of the kinds of symptoms that children may show if they have it might be helpful for parents," she said.

Shoffner said these findings may also open up new avenues of research into potentially more effective treatments for the future.

More information

To learn more about autism, visit Autism Speaks.

SOURCES: John M. Shoffner, M.D., associate professor, biology, Georgia State University, and president, Medical Neurogenetics, Atlanta; Geraldine Dawson, Ph.D., chief science officer, Autism Speaks; April 13, 2008, presentation, American Academy of Neurology annual meeting, Chicago

Copyright©2008 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Stanford researchers find culprit in aging muscles that heal poorly
2. New treatment boosts muscle function in myasthenia gravis
3. New Drug Aids Muscle Function in Myasthenia Gravis
4. Embryonic Human Stem Cells May Help Repair Heart Muscle, Lab Study Shows
5. Muscle patterns in women may be linked to at risk positioning for ACL tears
6. Endoscopic resection is a safe and effective treatment for gastrointestinal smooth muscle tumors
7. Study reveals how stem cells decide to become either skeletal or smooth muscle
8. Pre-Workout Stretching Wont Prevent Sore Muscles
9. Steroids Are Abused for Skin, Not Just Muscles
10. AUA releases new guidelines on non-muscle invasive bladder cancer
11. Scientists identify gene responsible for statin-induced muscle pain
Post Your Comments:
Related Image:
Muscle Weakness Found in Some Autistic Children
(Date:11/28/2015)... (PRWEB) , ... November 28, 2015 , ... Trying to ... has created the COUCH BUDDY. "I conceived of this design due to personal experience ... for couch users. It promotes relaxation and convenience, as well as increases support. It ...
(Date:11/27/2015)... ... November 27, 2015 , ... According to an ... the University of Toronto and the University of British Columbia suggested that laws requiring ... injuries. The article explains that part of the reason for the controversial conclusion is ...
(Date:11/27/2015)... ... November 27, 2015 , ... ... toilets were," said an inventor from Hillside, N.J. "Many people catch diseases simply ... so that individuals will always be protected from germs." , He developed the ...
(Date:11/27/2015)... ... November 27, 2015 , ... Consistent with the Radiology ... Building Better Radiology Marketing Programs meeting will showcase some of the best ... at Caesars Palace in Las Vegas with a pre-conference session on a collaborative ...
(Date:11/27/2015)... ... November 27, 2015 , ... CBD College is proud ... Education Programs (CAAHEP) awarded accreditation to its Diagnostic Medical Sonography program. CBD College is ... only one of twelve colleges and universities in the state of California make the ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... , November 26, 2015 3D bioprinting ... 2022, according to a new report by Grand View Research ... Disease (CKD) which demands kidney transplantation is expected to boost ... effective substitute for organ transplantation. --> 3D bioprinting ... 2022, according to a new report by Grand View Research ...
(Date:11/26/2015)... 2015 --> ... potential att använda SyMRI för att hitta ... patienter med multipel skleros (MS) eller hjärntumörmetastaser ... AB för att kunna använda SyMRI Research ... SyMRI kan man generera flera konstrastbilder från ...
(Date:11/26/2015)... DUBLIN , Nov. 26, 2015 ... the addition of the "2016 Future Horizons ... Monitoring (TDM) Market: Supplier Shares, Country Segment Forecasts, ... offering. --> ... comprehensive analysis of the Italian therapeutic drug monitoring ...
Breaking Medicine Technology: