Pattern of Mutations

Autism spectrum disorder (ASD) is a complex developmental disability that manifests in certain behavioral conditions.Prevalence of autism in the United States is estimated to be 1 in 68 children. Until today, the disorder is not completely understood, but recent studies have indicated that mutations in the mitochondria, the powerhouse of the cell, may be a factor in the development of autism.

In a new study from Cornell University researchers aimed to establish the genetic link between mitochondrial malfunction and ASD, published in PLOS Genetics. The research group led by biochemist Zhenglong Gu analyzed the DNA sequences in the mitochondria of 903 children with ASD. DNA from the children’s mothers and unaffected siblings were studied as well.

Their findings revealed a pattern of mutant and normal mitochondrial DNA sequences in a single cell. Autistic children had more than twice the number of mutations compared to their unaffected siblings. The scientists also report that the mutations can be inherited from the mother, or can spontaneously form during the child’s development.

Advancing Treatment

The discovery of Gu’s group confirms collateral research that attribute mitochondrial dysfunction to multiple neurological and developmental disorders. The mitochondria plays a vital role in cell growth, metabolism, and death.

“The result of our study synergizes with recent work on ASD,” Gu said. “Future research is needed to elucidate the mitochondrial mechanisms underpinning to these diseases. Ultimately, understanding the energetic aspects of neurodevelopmental disorders may lead to entirely new kinds of treatments, and preventative strategies that would target mitochondria.”

More than 3.5 million Americans live with autism. This discovery, together with other developments in treatment of ASD, could soon make life better for them.