In a recent press release from the Children’s Hospital of Philadelphia, it was declared that recent research is showing that autism spectrum disorders may be linked to “Combination of Inherited and New Genetic Mutations Acting Together.”
Quoted in the press release: “We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome and we suspect that differentcombinations of these variations contribute to autism susceptibility,” saidco-author Maja Bucan, Ph.D., professor of Genetics at the University of Pennsylvania School of Medicine and Chair of the Steering committee for Autism Speaks’ Autism Genetic Resource Exchange (AGRE).”
When researchers compared the DNA of children with autism against the DNA of children without autism (the control group), they found 27 different areas of genes where missing or extra copies of DNA segments were found. They also found other areas of “private” mutations that were found only in individual children or in their families. There is a genetic difference between children with autism and those without.
Basically, the risk for a child developing autism may depend both on the genes handed down to the child as well as mutations that may just have occurred only with that child. Different combinations of these differences may contribute to autism risk.
These findings support previous studies that suggest that multiple genes may be combining to affect the central nervous system and raise the risk of autism.
Many of the children with autism had variations in two specific genes: BZRAP1 and MDGA2 genes. Many but not all. At the moment there is no easy answer. This is a complicated disease, but progress is being made toward finding a cause and hopefully cure or prevention.
To learn more about Autism, you can visit the Autism Speaks website at http://www.AutismSpeaks.org
You can read more blog posts by Mary Ann Romans here!
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