Researchers Find Common Pathways Between Autism-Related Genetic Mutations

Researchers Find Common Pathways Between Autism-Related Genetic Mutations

From a statistical point of view, autism and other diseases included in ASDs (Autism Spectrum Disorders) affect approximately 1 in 90 children. Symptoms of these diseases can range from moderate personality issues to seizures and even severe intellectual disabilities. One of the critical aspects of diagnostic and medication is the understanding of how the genetic pathways are altered. A new study on the responsibility of genes in autism spectrum disorders is going to be presented during the 57th Annual Meeting of the BPS (Biophysical Society), held in early February this year.

According to Rajini Rao, from the Johns Hopkins University, in Baltimore, autism is “the most inheritable of neurodevelopmental disorders”. She adds that it’s difficult for scientists to identify the genes responsible for autism since there is a great variety of genes that contribute to the onset of autism, each gene having a very small contribution. However, she adds that all these genes affect several common pathways.

A team of researchers from Johns Hopkins University teamed up with Tel Aviv University from Israel investigated the genetic sequence variations of the NHE9 ion transporter. They found out that the variants of NHE9 found in autism spectrum diseases causes an important loss of its transporter function. Professor Rao notes that if the levels of this transporter is altered it may result into the modulation of glutamate attracting proteins on the cell membrane. According to professor Rao, high levels of glutamate levels are associated with seizures, thus being a possible explanation of why some autistic patients suffer from seizures.

Scientists used a particular approach in which they studied multiple decades of research done on yeast and bacteria and used it towards understanding this complicated neurological disorder. The research group from the Tel Aviv University created structural models of the NHE9 through the use of a bacterial template. These models allowed the research team from the Johns Hopkins University to use baker’s yeast in order to screen any developed mutation. If genomic information becomes available for the general public in the near future, it would mean that patients would have access to a fast, cheap and efficient method of screening, thus allowing the evaluation of genetic variants in autism spectrum diseases and other genetic disorders to be conducted on a larger number of patients.

“These findings add a new candidate for genetic screening of at-risk patients that may lead to better diagnosis or treatment of autism”, concluded professor Rao.