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

(Medical Xpress)—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 . This membrane is present in many tissues including . 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. These results highlight its potential future therapeutic use for stroke.

Dr Tom Van Agtmel of the Institute of Cardiovascular and Medical Sciences at the University of Glasgow who led the study, said: "Haemorrhagic stroke accounts for half of all stroke cases in children and currently there is no treatment.

"Although it is expected that only a small number of patients will have defects in this membrane, this research gives us a better understanding of how this type of stroke develops. Importantly, it has identified how we might treat it in some cases. However, this is just one genetic mutation we've identified and analysed so there is still a long way to go, but it's a start."

The researchers obtained their results by analysing skin biopsies from a father a son with a family history of porencephaly – a cavity in the brain caused by perinatal haemorrhagic bleeding which can result in and .

Both father and son carried the genetic mutation but only the son displayed the accumulation of the inside the cell.

Dr Van Agtmael added: "The next stage will be to see if the drug treatment works in an animal model. If it does then this is a first step towards investigating its potential in human patients with this type of stroke using the pre-existing, approved drug."

More information: hmg.oxfordjournals.org/content… ddt418.full.pdf+html

Related Stories

New stroke gene discovery could lead to tailored treatments

Feb 01, 2013

An international study led by King's College London has identified a new genetic variant associated with stroke. By exploring the genetic variants linked with blood clotting – a process that can lead to a stroke – scientists ...

Peritoneal dialysis as an intervention for stroke patients

Sep 03, 2013

Ischemic stroke is characterized by an interruption of the blood supply to the brain, which can lead to brain damage and even death. Excess amounts of the excitatory neurotransmitter glutamate are released during stroke events ...

Genetic variant increases risk of common type stroke

Feb 05, 2012

A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics today. This is one of the few genetic variants to date t ...

Recommended for you

Mutation disables innate immune system

Aug 29, 2014

A Ludwig Maximilian University of Munich team has shown that defects in the JAGN1 gene inhibit the function of a specific type of white blood cells, and account for a rare congenital immune deficiency that ...

Study identifies genetic change in autism-related gene

Aug 28, 2014

A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of ...

NIH issues finalized policy on genomic data sharing

Aug 27, 2014

The National Institutes of Health has issued a final NIH Genomic Data Sharing (GDS) policy to promote data sharing as a way to speed the translation of data into knowledge, products and procedures that improve health while ...

The genes behind the guardians of the airways

Aug 27, 2014

Dysfunctions in cilia, tiny hair-like structures that protrude from the surface of cells, are responsible for a number of human diseases. However the genes involved in making cilia have remained largely elusive. ...

User comments