IMIM: Researchers identify a new gene associated with haemorrhagic stroke

IMIM: Researchers identify a new gene associated with haemorrhagic stroke

News from IMIM

Researchers from the International Stroke Genetics Consortium (ISGC), among them scientists from the Vall d'Hebron Research Institute (VHIR), the Hospital del Mar Medical Research Institute (IMIM), and the Research Foundation MutuaTerrassa (FMT) of the University Hospital MutuaTerrassa (HUMT) have identified a new gene, PMF1, involved in intracerebral haemorrhage. The finding, published in the American Journal of Human Genetics, was possible thanks to the first genome-wide association study (GWAS) on this disease.

Thanks to this work, the researches have been able to detect a genetic variation in chromosome 1q22 associated with patients with non-lobar haemorrhagic strokes. For Dr Israel Fernández, member of the Neurovascular Diseases research group of the VHIR and head of the Pharmacogenomics and Neurovascular Genetics laboratory of the FMT, “the gene identified (PMF1) may constitute a new risk factor for this disease because it may be related to the breakdown of the blood-brain barrier associated with this type of haemorrhagic stroke”.

There is currently no effective treatment for intracerebral stroke, which is the most common type of haemorrhagic stroke. It is not known how the mechanisms that cause its appearance function but it is known that there are many risk factors such as hypertension, amyloid angiopathy and the use of anticoagulant drug treatments.

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