Methylation — modifications to DNA that regulate gene expression — may explain why identical twins with the same Rett syndrome mutation have different symptoms, according to a study published 21 June in PLoS One.
Spectrum: Autism Research News
Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.
By combining bioinformatics techniques with an analysis of gene expression, researchers have identified 30 candidate genes for autism, according to a study published 28 May in Translational Psychiatry.
Induced pluripotent stem cells, which have the ability to become any cell type, including neurons, offer a powerful way to study neuropsychiatric disorders. But for this approach to reach its full potential, researchers must first address several challenges, such as variability between cell lines, say Flora Vaccarino and Jessica Mariani.
The autism-linked protein MET is expressed at lower levels in the brains of men with autism than in control brains, according to unpublished research presented Thursday at the Salk Institute, Fondation IPSEN and Nature Symposium on Biological Complexity in La Jolla, California. Women with autism do not differ from healthy controls, however.
Spontaneous, or de novo, mutations are present in about half of individuals with severe intellectual disability who do not have large genetic disruptions, according to two sequencing studies published in November.