Researchers Isolate Rare Protein Mutation Said to Influence Intracranial Hemorrhage

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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About the 2014 AANS Annual Scientific Meeting: Attended by neurosurgeons, neurosurgical residents, medical students, neuroscience nurses, clinical specialists, physician assistants, allied health professionals and other medical professionals, the AANS Annual Scientific Meeting is the largest gathering of neurosurgeons in the nation, with an emphasis on the field’s latest research and technological advances. A record-breaking 1,321 scientific abstracts were presented for review at the 2014 AANS Annual Scientific Meeting, and the scientific presentations given at this year’s event represent cutting-edge examples of the incredible developments taking place within the field of neurosurgery. Additional information about the AANS Annual Scientific Meeting and the Meeting Program can be found at http://www.aans.org/Annual Meeting/2014/Main/Home.aspx.

Founded in 1931 as the Harvey Cushing Society, the American Association of Neurological Surgeons (AANS) is a scientific and educational association with nearly 8,600 members worldwide. The AANS is dedicated to advancing the specialty of neurological surgery in order to provide the highest quality of neurosurgical care to the public. All active members of the AANS are certified by the American Board of Neurological Surgery, the Royal College of Physicians and Surgeons (Neurosurgery) of Canada or the Mexican Council of Neurological Surgery, AC. Neurological surgery is the medical specialty concerned with the prevention, diagnosis, treatment and rehabilitation of disorders that affect the entire nervous system including the spinal column, spinal cord, brain and peripheral nerves. For more information, visit www.AANS.org.

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