A major international scientific consortium identified a genetic mutation in one of the approximately 23.000 human genes, which can double the risk of ischemic stroke. It is one of the first times that scientists discover a specific genetic factor, justifying the association between genetic variants and susceptibility to stroke.
Therefore, scientists can be optimistic that better understanding of the genetic background of strokes, can lead them to more effective and improved treatments, in addition to methods for early diagnosis and prevention. Yet, time-wise it is not possible to determine when this will happen.
Researchers from Britain, the United States, Australia and Europe, among them Greek geneticist, Panos Deloukas, published their study in “Nature Genetics”, having performed thousands of case-studies of stroke patients. The scientists were able to identify an association between the large vessel ischemic stroke and a genetic variation of the HDAC9 gene.
The HDAC9 gene produces a protein involved in the formation of muscle tissue and the development of the heart, and the research associates it with the susceptibility to ischemic stroke. Therefore people who inherit two copies of the variant gene, one from their mother and one from their father, are exposed to twice the risk of ischemic stroke, compared to those with no copies of the gene variant.
The team of scientists from the University of Oxford used a new genetic analysis technique, allowing them to compare the genomes of 10.000 stroke patients and 40.000 people who never had a stroke. Greek geneticist, Dr. Panos Deloukas from the British “Wellcome Trust Sanger” institute, specializing in genetics and the genetic study of coronary and artery disease, participated in the studies.
Dr. Panos Deloukas graduated with a a degree in Chemistry from the Aristotelian University of Thessaloniki, Greece in 1986 and moved on to obtain a Masters in Microbiology from University Paris 7. He received his PhD from the Biozentrum University of Basel, Switzerland in 1991 for work on the construction and use of Yeast Artificial Chromosome clone banks of the human genome. He then spent two years at Hoffmann-La Roche, a Swiss global health-care company, as postdoctoral fellow working on vitamin D receptor, and joined the “Wellcome Trust Sanger” institute in 1994.