69 Genes of Autism Spectrum Disorder Identified!
A UCLA-led research group has identified the set of genes, including 16 new genes, that enhances the risk of autism. The findings of the research team were based on the studies conducted among the families with at least two children with an autism spectrum disorder. The findings of the study are published in the journal Cell.
Scientists from UCLA, Stanford University and three other organizations with the help of whole-genome sequencing mapped the DNA of 2,300 people from nearly 500 families. Scientists found 69 sets of genes that increased the risk for autism spectrum disorder or ASD; Out of these 69 genes, 16 genes were not previously suspected to be associated with a risk for ASD.
Scientists also identified hundreds of genes they suspect may increase the risk of autism based upon their proximity to those genes that were previously determined to carry an increased risk. This research revealed new biological pathways that had not previously been identified in the researches related to autism.
The study’s co-lead author Elizabeth Ruzzo, a UCLA postdoctoral scholar, revealed that the research findings of the study also highlight the importance of learning how genetic variations or mutations i.e, the differences that make each person’s genome unique, are passed from parents to children affected with autism. Laura Pérez-Cano, the Former UCLA postdoctoral scholar, is the study’s other co-lead author.
Ruzzo has also mentioned that when they compared parents of autistic children to that of the individuals without autism, researchers observed that the parents of children with Autism Spectrum Disorder carry rarer and highly damaging gene variants. These gene variants are frequently passed from the parents to the ASD affected children but not to the unaffected children which helps to identify that these gene variants are significantly increasing the risk of Autism Spectrum Disorder.
Out of the children considered for this research 960 had autism and 217 without autism. This helped researchers team to analyze the genetic differences between children with and without autism across different families.
Dr. Daniel Geschwind, a senior author of the study and the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry at the David Geffen School of Medicine at UCLA stated that the studies conducted on families with multiple children affected with autism has helped the scientists to detect inherited mutations in Autism Spectrum Disorder.
Geschwind, one of the director of the UCLA Center for Autism Research and Treatment and Director of the Institute of Precision Health at UCLA, said that the studies conducted by the UCLA-led research team show a substantial difference between the types of mutations that occur in different types of families that have more than one Autism Spectrum Disorder affected child versus those having only one child with Autism.
Dennis Wall, the study’s co-senior author, a Stanford University School of Medicine associate professor of pediatrics and of biomedical data science, said that the UCLA-led researchers identified newly determined 16 genes to be associated with an increased risk for autism which forms a network with the previously identified set of genes that are associated with the risk of Autism Spectrum Disorder. The way these genes interact with each other heightens the risk further. These genes associate with each other more tightly than the researcher’s expectation. These gene interactions appear to be an important link to autism spectrum disorder, Dennis added.
The nearly 600 genes scientists presume to carry an enhanced risk of autism spectrum disorder were determined through “guilt by association” which means via their interactions with various other genes that already had been identified to carry an increased autism risk, said Ruzzo. Although not all of those genes will be found to enhance the risk for autism, the analysis of the study indicated that future research studies will provide support for most of these genetics.
The families in the study are part of the Autism Genetic Resource Exchange, or AGRE, which was created nearly twenty years back by researchers and the National Institutes of Health in partnership with Cure Autism Now, which is now a program of Autism Speaks.
Autism is a spectrum of neurological disorders characterized by difficulties with communication and also social interaction. Geschwind has actually been working to identify the genetic causes and biological mechanism of the Autism spectrum disorder for more than a decade, and in the late 1990s, he led the growth of the AGRE resource used in the new study. In 2018, he and his colleagues at UCLA got their 2nd five-year give from the National Institutes of Health to further expand research on autism by studying the genetic root causes of autism in African American families.