Key Study Finds More Autism Genes
Scientists have found 27 different regions in the genome where rare copy number variations – missing or extra copies of DNA segments – exist in children with autism spectrum disorders (ASDs), but not in those without the disease. These findings are reported in the most recent issue of PLOs Genetics, and came from additional analysis of a very large scale whole genome scanning study. Almost 1000 families with more than one child affected by autism participated.
“We identified additional autism susceptibility genes, many of which, as we previously found, belong to the neuronal cell adhesion molecule family involved in the development of brain circuitry in early childhood,” said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia. He added that the team discovered many “private” gene mutations, those found only in one or a few individuals or families. This supports the idea that autism can be caused by a variety of genetic risk factors and likely environmental ones as well.
“We are finding that both inherited and new, or de novo, genetic mutations are scattered throughout the genome and we suspect that different combinations of these variations contribute to autism susceptibility,” said co-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). “We are grateful to families of children with autism spectrum disorders for their willingness to participate in genetic studies because family-based studies have many advantages. We have learned a lot both from genetic analyses of children with autism as well as analyses of their patents and their unaffected siblings.”
This study was made possible because AGRE provided genetic biomaterials and clinical data from ASD affected families. Blood samples donated by children and their families at Children’s Hospital were used as healthy controls. AGRE makes data publicly available to qualified researchers worldwide.
Because it is increasingly common, autism is a growing public health problem. Autism Speaks is working with many researchers on finding the causes of autism through the Autism Genome Project.
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