A team led by Western researchers has identified a new genetic marker involved in intellectual disability and autism.
The study published this month identified a new gene, KMT2C, that plays a role in patients with intellectual disabilities. Jamie Kramer, an assistant professor in physiology and pharmacology and biology at Western, led the study.
“Our goal was to identify genetic causes of intellectual disability and to understand the genes that are mutated and what their function is in the nervous system," Kramer said.
According to Kramer, the study started with patients who showed symptoms of Kleefstra syndrome — a genetic disorder characterized by intellectual disability — but who did not have the mutation for it. Their team looked into the KMT2C gene and found gene mutations in five patients who suffer from intellectual disabilities.
Kramer said although intellectual disability is a relatively common disorder, there is still a lot that is not known.
“We don't know that much about the underlying mechanisms, and there is really no avenue for treatment at this point that is applicable to a large group of people,” Kramer said.
Kramer adds that over the last five to 10 years, there have been findings about the genetics of intellectual disability. He said a valuable next step is to look into how these genes play a role in the nervous system.
“Once we figure that out, then it might be possible to think about therapies,” Kramer said.
Kramer mentioned that this study was possible because of the intense collaboration with clinicians from the United States and the Netherlands, diagnostic centres and other academic groups.
“There's not that many patients in the world that we know of so far that have mutations in these genes, so in these types of studies you need to collaborate widely to collect enough information to develop a relevant study,” Kramer said.