New research indicates there is a relationship between mitochondrial disease and autism. Although at this point, researchers are not sure if mitochondrial disease plays a role in the development of autism, or if the muscle weakness in a child with autism points to a genetic defect that causes mitochondrial disease. Mitochondrial disease results in muscles not getting the energy they need. This is because the mitochondria convert energy of food molecules into the ATP, which powers most cell functions. Every cell of the body, with the exception of red blood cells, contains mitochondria. Researchers have even suggested that mitochondrial disease may prevent the brain from getting the energy it needs to function properly.
Large studies have shown that approximately 20 percent of children with autism have markers of mitochondrial disease in their blood. However, Dr. John Shoffner, an associate professor of biology at Georgia State University and president of Medical Neurogenetics, recently found markers in 65 percent of children in his group with autism spectrum disorders, ASD. This same 65 percent of children in his study group had genetic defects in their skeletal muscles. Dr. Shoffner notes that this group of children had a higher percentage of markers than average because doctors who suspected additional problems referred them to him for this study.
He believes that the direction of autism research is moving towards uncovering the underlying cause of autism spectrum disorders. Depending on which body systems are affected, symptoms of mitochondrial disease may include muscle weakness, loss of muscle control, poor growth, heart disease, diabetes, developmental delays, an increased risk of infection. Mitochondrial diseases have characteristics unique to individuals because of the way the diseases are inherited and because mitochondria are critical to cell function.
If you have been checking the various state adoption websites lately that picture their children available for adoption, then you may have noticed an increase in those with ASD or GDD. Recently, you may have seen billboards indicating that a child is diagnosed with autism every 20 minutes. Whether or not that is accurate, I cannot say. However, there has definitely been an increase in children diagnosed autism in recent years. Hopefully, sheer numbers will spur researchers to find answers.
Photo Credit Wikipedia.org Mitochondrial disease
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