Study: Autism Gene Candidate Identified
N E W Y O R K, Nov. 28 -- While researchers have theorized about 15 different genes involved in autism, they now believe they have identified one that may predispose people to developing the disorder.
University of Rochester scientists report in the current issue of Teratology that 40 percent of 57 autism patients in a study they performed carried a mutated version of the HOXA1 gene, which plays a crucial role in early brain development.
Gene Involved in Early Development
“These findings strongly suggest that a gene controlling early brain formation may underlie the development of autism in a large number of cases, “ says Duane Alexander, director of the National Institute of Child Health and Human Development in the National Institutes of Health.
To develop autism, children need to inherit just one copy of a mutated gene from one parent. Only one person in the study carried two copies of the variant gene. Such an event is rare, because two copies would probably interfere with survival, explains lead researcher Patricia Rodier, who heads theuniversity’s autism research center, funded by the NationalInstitutes of Health.
More than 400,000 Americans have the brain disorder, characterized by profound socialwithdrawal, repetitive behavior and inability to communicate.Research suggests it’s caused when something goes wrong duringcritical fetal brain development — a theory supported by the genediscovery.
Maternal Inheritance May Play Role
Why don’t parents who harbor the defective gene have autismthemselves? Some do have very subtle symptoms, suggesting thatsomething else, perhaps some other gene, keeps the autism-relatedgene in check, Rodier says.
The gene also expresses itself more readily when the person inherits from the mother than from the father, the researchers found. This finding agrees with other studies of autism in families: Inheritance from the mother seems to play a strong role in who develops the disorder.
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