Stroke-causing mutant gene identified by scientists - along with a potential treatment

A genetic mutation that can lead to haemorrhagic stroke has been identified by scientists - along with a drug to potentially treat it. Research published in the journal Human Molecular Genetics highlights a mutation in the gene COL4a2 that causes bleeding in the brain. COL4a2 is a protein that is expressed by the gene of the same name, which forms a structure outside the cell called a basement membrane. This membrane is present in many tissues including blood vessels. Mutations in this protein have been expected to cause disease due to structural defects in those membranes. However, scientists have now identified for the first time that accumulation of the mutant protein inside the cell can influence the development of haemorrhagic stroke. Importantly, however, the scientists were able to treat the disease in cells grown in a culture dish by using a drug which has been approved for human patients.