An international team of researchers has identified a genetic mutation that affects learning and memory in children.
The team led by Jacques L. Michaud from Sainte-Justine University Hospital Research Centre and the Centre of Excellence in Neuromics of the Universite de Montreal has identified mutations in a novel gene in children with non-syndromic mental deficiency (NSMD), a most common form of mental disorder in kids.
"NSMD is a disorder that has many causes," the New England Medical Journal quoted Michaud as saying.
"By linking this gene to one kind of NSMD, we better understand the causes and we can work towards a way of identifying and treating this incapacitating condition".
The researchers found that mutations affect the function of SYNGAP1, a gene that codes for a protein involved in the development and function of the connections between brain cells, also called synapses.
The disruption of this gene has been shown to impair memory and learning in mice.
"Several observations indicate that new mutations are a frequent cause of neurodevelopmental disorders, but their identification has been difficult because it requires the study of a large fraction of genes, which represents a challenging task," said Dr. Fadi F. Hamdan, first author of the study.
During the study, the researchers looked at 500 synaptic genes in a group of children with unexplained mental deficiency.
They found that three percent of their subjects had new deleterious mutations in the SYNGAP1 gene.
"This discovery illustrates the power of novel technologies that allow researchers to study hundreds of genes in large groups of individuals, and provides validation for the use of such an approach for the exploration of neurodevelopmental disorders," said Dr. Guy A. Rouleau, Director of Sainte-Justine Research Center and Head of the Synapse to Diseases consortium.
Children with mutations in SYNGAP1 show strikingly similar forms of NSMD, with delays in their language and mental development and, in some cases, a mild form of epilepsy.