Pinpointing genes underlying developmental delay
A paper published online this week at Nature Genetics uses an innovative method to find new genes that contribute to neurocognitive disorders, such as autism. Read more
A paper published online this week at Nature Genetics uses an innovative method to find new genes that contribute to neurocognitive disorders, such as autism. Read more
One of the many remarkable findings of the cancer genome sequencing projects that have been published in this and other journals is the repeated discovery of somatic driver mutations in genes that encode chromatin remodeling factors, which regulate the epigenome. De novo mutations in this same family of genes also cause several developmental syndromes, whose various features all include intellectual disability. Surprisingly, a few de novo mutations in these genes have recently been reported in autism. How do these mutations (which at least in some cases appear to be loss-of-function in both cancer and in the developmental syndromes) in the same class, and in some cases, the same exact genes cause these different diseases? Read more
Again, we’re behind on blogging – you guys are keeping us busy with great neuroscience – but here is the story of a pair of papers that appeared back to back in last week’s issue and a continuation of the discussion started here by Noah about the process of joint publication. The two papers by Tobias Boeckers and colleagues and by Eunjoon Kim and colleagues were independently submitted and both describe autism-like phenotypes of mice with mutations in the gene Shank2. In human studies, SHANK2 has been associated with rare cases of autism and these two mice add to the ever-growing list of rodents (according to SFARI.org, 17 rodent models debuted in 2011 alone) that are being created to investigate the functional consequences of genetic mutations linked to autism, in the hopes of understanding mechanisms underlying core symptoms. Shank2 is a scaffolding protein that regulates excitatory synapse function by holding together various molecules such as neurotransmitter receptors and signaling proteins. Mutations in another member of the same gene family, SHANK3, are also associated with human autism, and mutant mice display behaviors reminiscent of ASD symptoms, such as social deficits and obsessive behavior. So this protein family, and more generally, glutamatergic transmission, is potentially one promising line of investigation. Read more
Seth Mnookin is a Lecturer in MIT’s Graduate Program in Science Writing. His most recent book, The Panic Virus: The True Story Behind the Vaccine-Autism Controversy, was called a “tour de force” by The New York Times and “a book that should be required reading at every medical school in the world…a brilliant piece of reportage and science writing” by The Wall Street Journal. Read more