Mice born to older males with mutations in PAX6 — a gene involved in brain development — vocalize less than those with younger dads. The unpublished findings, presented today at the 2014 Society for Neuroscience annual meeting in Washington, D.C., suggest how genes and paternal age can work together to trigger symptoms.
Experimental drugs can reverse the effects of some autism-linked mutations in the dopamine transporter, a protein that shuttles the chemical messenger dopamine into neurons. Researchers presented the unpublished findings in five posters yesterday at the 2014 Society for Neuroscience annual meeting in Washington, D.C.
Finding people who have an autism-linked mutation but no apparent symptoms may be the key to identifying drug targets for the disorder, says Thomas Insel, director of the National Institute of Mental Health.
Stephan Sanders has quickly climbed the ranks in autism research. At 35, he’s already credited with bringing a measure of clarity to autism genetics. And that’s just one feat in a long and accomplished resume.
Boys with autism who carry rare, spontaneous mutations have lower intelligence quotients and more severe symptoms than do those who may have inherited the disorder. The finding, published 21 October in the Proceedings of the National Academy of Sciences, hints at two classes of autism risk with varying severity.
Analyzing the sequences of more than 20,000 people, researchers have unearthed the largest and most robust list of autism genes so far, they reported today in Nature.
Many of the genes that have emerged as the strongest autism candidates have turned out to regulate the expression of hundreds, if not thousands, of other genes. Within these networks, scientists are homing in on pathways that underlie autism.
Combining analysis of large deletions or duplications in the genome with sequences from protein-coding regions can identify new syndromes, as well as the mutations that cause those disorders, according to a report published 14 September in Nature Genetics.
Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
On 1 October, Mark Daly discussed new insights into autism from common and rare genetic variants. (Due to technical issues, the video replay for this webinar is unavailable.)