A newly characterized gene on the X chromosome may be disrupted in up to one percent of people with autism, researchers reported Wednesday in Science Translational Medicine.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
The protein missing in fragile X syndrome is necessary for the proper development of neural stem cells — self-renewing cells that can differentiate into more specialized types, including neurons — according to a paper published in the August issue of Human Molecular Genetics.
For nearly 20 years, Ralph Adolphs has been trying to figure out how the human amygdala works. An avid outdoorsman, Adolphs has run a dozen 50- and 100-mile races, and his colleagues say he approaches science with the same stamina and intensity. He has already published more than 100 scientific papers, several of them revealing intriguing ties between the amygdala and autism.
Researchers have devised a system to assign a unique identifier to each participant in an autism study. This Global Unique Identifier, or GUID, allows investigators to see which other studies participants have enrolled in, while maintaining participants’ privacy.
The amygdala, a brain region that regulates fear and anxiety, shows abnormal neuronal signaling in a mouse model of fragile X syndrome, according to two studies published this summer. These are the first to explore cellular defects in the region in fragile X.
For a few hundred dollars and a bit of your spit, you can have parts of your DNA analyzed. If you’re more ambitious, $20,000 — and a lot less than that a year from now — will buy you the sequence of your entire genome. But the real question is should you, and others like you, find out what secrets your genome holds?
Changes in diagnostic practices, more active neighborhood networks, and an increase in the number of older parents may all contribute to the massive rates of autism in California, says a group of social scientists. But the numbers still don’t add up.
Mouse models of fragile X syndrome show defects in two kinds of potassium channels — ubiquitous pores that control the flow of electrical current across neurons — in a brain area that processes sound, according to two papers published this summer.
The Autism Birth Cohort, based on data from 100,000 Norwegian children and their families, aims to uncover genetic and environmental factors contributing to the disorder.