Scientists have identified a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development.
The majority of patients with the condition, that is so new it doesn’t have a name yet, have severe learning difficulties which affect their quality of life.
An international team of researchers from the universities of Portsmouth, Southampton and Copenhagen found that changes in a protein coding gene called Glutamate Ionotropic Receptor AMPA Type Subunit 1 (GRIA1) caused this rare genetic disease.
Now the variant has been identified, it will help clinicians come up with targeted interventions to help patients and their families, also opening the door to screening and prenatal diagnosis.
The GRIA1 gene helps to move electrical signals around the brain. However, if this process is interrupted or made less efficient, it can cause a reduction in the brain’s capacity to retain information.
The research team, made up of frog geneticists, biochemists and clinical geneticists, used tadpoles in which the human gene variants were mimicked using gene editing to show that GRIA1 changes are the underlying cause of the behaviour-altering disease. The biochemical analysis of the variants was also performed in frog oocytes.