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 -- ge
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