Researchers have identified 18 additional gene variations that appear to increase the risk of autism, according to the latest study from the Autism Speaks MSSNG project, the world’s largest autism genome sequencing program.
The research, published in the journal Nature Neuroscience, involved the analysis of 5,205 whole genomes from families affected by autism. The omitted letters in MSSNG (pronounced “missing”) represent the missing information about autism that the research program seeks to deliver.
“It’s noteworthy that we’re still finding new autism genes, let alone 18 of them, after a decade of intense focus,” said study co-author Mathew Pletcher, Ph.D., Autism Speaks’ vice president for genomic discovery. “With each new gene discovery, we’re able to explain more cases of autism, each with its own set of behavioral effects and many with associated medical concerns.”
So far, research using the MSSNG genomic database has identified 61 genetic variations that affect autism risk. The researchers have linked several of these variations with additional medical conditions that often accompany autism. The goal, Pletcher said, “is to advance personalized treatments for autism by deepening our understanding of the condition’s many subtypes.”
The researchers found that many of the 18 newly identified autism genes impact the operation of a small subset of biological pathways in the brain. All of these pathways affect how brain cells develop and communicate with each other.
“In all, 80 percent of the 61 gene variations discovered through MSSNG affect biochemical pathways that have clear potential as targets for future medicines,” Pletcher said.
Increasingly, autism researchers are predicting that personalized, more effective treatments will be developed from understanding these common brain pathways and how different gene variations alter them.
“The unprecedented MSSNG database is enabling research into the many ‘autisms’ that make up the autism spectrum,” said the study’s senior investigator, Stephen Scherer, Ph.D.
For example, some of the genetic alterations found in the study occurred in families with one person severely affected by autism and others on the milder end of the spectrum, Scherer said.
“This reinforces the significant neurodiversity involved in this complex condition,” he said. “In addition, the depth of the MSSNG database allowed us to identify resilient individuals who carry autism-associated gene variations without developing autism. We believe that this, too, is an important part of the neurodiversity story.”
The findings reveal how whole genome sequencing can guide medical care today. For example, at least two of the autism-associated gene changes described in the paper were linked to an increased risk for seizures. Another was tied to an increased risk for cardiac defects, and yet another with adult diabetes.
The results show how whole genome sequencing for autism can provide additional medical guidance to individuals, families and their physicians, say the researchers.
Source: Autism Speaks