Epigenetics of Autism

A paper published in the FASEB Journal this week relays the results of a large-scale CpG island microarray methylation profiling "analysis of lymphoblastoid cell lines derived from monozygotic twins discordant for diagnosis of autism and their nonautistic siblings." AnhThu Nguyen and colleagues found two candidate genes for autism — they confirmed BCL-2 as a candidate using bisulfite sequencing, and discovered the retinoic acid-related orphan receptor alpha, or RORA, as a novel candidate using methylation-specific PCR. "Immunohistochemical analyses of tissue arrays containing slices of the cerebellum and frontal cortex of autistic and age- and sex-matched control subjects revealed decreased expression of RORA and BCL-2 proteins in the autistic brain," the authors write, adding that their data "confirm the role of epigenetic regulation of gene expression via differential DNA methylation in idiopathic autism." Valerie Hu, co-author of the study, has hopes that her team's work will pave the way for future therapies for those affected by autism, including her own son, she says in a statement. "Since autism is very diverse in the array of symptoms present in any given individual, it is first necessary to be able to identify specific deficits in each individual in order to design and then prescribe the best treatment," Hu says. "As an example of this personalized approach to medicine, we identified RORA as one of the genes that was altered specifically in the sub group of autistic individuals who exhibited severe language deficits."