What the search for autism genes means

Does a single gene or do multiple genes cause autism? Recent research studies have found evidence of both. As Lidia Wasowicz writes in Ped Med: The hunt for autism genes regarding researchers at Duke University Medical Center who have been investigating heredity studies of 470 families with autism:

It involves the neurotransmitter GABA, a nerve cell that fires at the receptors on another to trigger a response — in this case, the activation of the cell’s “off switch,” researchers said.

The team found the system appears to exert its influence not through any singular action but through an elaborately orchestrated interplay among many proteins.

She also reports on another study that uses data from the Utah Population Database, which contains computerized data from 1.6 million members of 170,000 Utah families whose ancestors were among the state’s founders.

Surveying the contents of thousands of units of heredity they had squeezed onto a 3-by-1.5-inch chip, University of Utah investigators recently zeroed in on a likely hideout of a renegade gene suspected of having ties to autism, a disorder marked by difficulties in communicating, socializing and imagining.

They pinpointed the region on a single chromosome — the threadlike structure at the heart of each cell composed of heredity-harboring deoxyribonucleic acid, or DNA — by tracing variations in the genetic material of an autism-prone Utah family descended from one couple.

Another team is focusing on chromosome 17 and the SERT gene by looking at DNA samples from 120 families. They have found multiple variations on a single gene in those who have more than one male autistic relative. This gene regulates levels of serotonin in the brain; serotonin also happens to be elevated in the bloodstream of some 25 percent of individuals with autism,” and these findings may mean that it is possible to test autistic children for these variants and thereby detect autism much earlier.

Wasowicz does notes that “the investigators are on the lookout for more suspects they hope will lead them to ways to minimize the suffering the disorder can bring, or eliminate it entirely,” and the latter notion of “eliminating autism” is why this kind of genetic research is viewed with more than suspicion among members of the autism community. It seems that this kind of research is going to continue to advance and that more genes will be found—-and it seems to me that we need to stay informed and keep advocating for a view of autism that is “posautive“—-and that makes it very clear how much worse off we would be without autistic persons. Certainly I would be so, without my son Charlie.

Kev’s daughter Megan singing a favorite song.

My son Charlie swimming and riding his bike.

Imagine a world without Megan and Charlie.