Researchers Isolate Rare Protein Mutation Said to Influence Intracranial Hemorrhage
Article ID: 615388
Released: 20-Mar-2014 4:00 PM EDT
Source Newsroom: American Association of Neurological Surgeons (AANS)
Newswise — SAN FRANCISCO (April 8, 2014) — Aquaporins, a family of proteins, function as water-selective channels in the plasma membranes of many cells. Aquaporin 4, the predominant water channel found in the brain, is involved in many processes associated with such acute neurologic injuries as intracranial hemorrhage, or ICH. Cerebral edema and expansion of a hematoma after ICH are potentially life-threatening conditions.
In what is believed to be the first human study of its kind, a team of researchers led by Geoffrey Appelboom, MD, investigated the influence of Aquaporin 4 on ICH. The study, titled Aquaporin-4 Gene Variant Independently Predicts Combined Edema Volume after Intracerebral Hemorrhage, found that a rare mutation in Aquaporin 4 has a significant effect on hematoma and edema volume.
Presenting the team’s findings today during the 82nd Annual Scientific Meeting of the American Association of Neurological Surgeons (AANS), Dr. Appelboom commented: “Despite the fact that the mutation in question is relatively rare, its apparent effect on hematoma and edema volume is so large as to establish an independent genetic association, which even holds after controlling for the various other factors that may influence hematoma and edema formation.”
Dr. Appelboom said: “Identifying this independent genetic predictor of hematoma and edema volume following ICH is important for several reasons. It can greatly affect outcome and can allow for better patient stratification in future clinical trials. Also, water channel modulation could be a therapeutic avenue for controlling increased intracranial pressure.”
The study co-authors include Sam Bruce, MS; Matt Piazza, MD; Aimee Monahan, BA; Eliza Bruce, BA; Stephan Mayer, MD; and E. Sander Connolly Jr., MD, FAANS.
Disclosure: The author reported no conflicts of interest.
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