Studies Continue to Find Genetic Causes for Autism in the Search for a Cure

2013-01-24 10:24

Autism is a physical condition linked to abnormal biology and chemistry in the brain. The exact cause of this developmental disorder remains unknown, but is an active area of research, especially in the area of genetics where researchers are honing in on the gene mutations linked to autism which one day could lead to improved diagnosis and potentially a medical cure.

A recent report released by the Centers for Disease Control and Prevention (CDC) suggests that autism and related disorders is more common than previously thought. About one in 88 children in the United States are diagnosed with an autism spectrum disorder (ASD).

Researchers are fairly certain that autism has genetic roots, as the condition appears to run in families. However, genetic causes found so far have been so varied that it is hard to find enough people with a given mutation to establish a clear pattern.

One study conducted by researchers at Boston Children’s Hospital and published in the journal Neuron have found evidence for several inherited mutations using whole-exome sequencing to study large Middle Eastern families with autism. There is some evidence of the same mutations in US families as well, however American families aren’t usually the best for studies as they aer typically much smaller.

Tim Yu MD PhD and colleagues began by looking at three Middle Eastern families that had two or more children with an ASD. In all three families, the parents were first cousins, a common tradition in the Middle East. The researchers used genetic mapping techniques to narrow the search for specific chromosomal locations, and then proceeded to sequence the genes in those areas.


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