MONTREAL 27 July 2005--Scientists at the MUHC have made progress inunderstanding what causes migraines. The research, published in the newissue of the Proceedings of National Academy of Sciences (PNAS),reveals how gene mutations known to cause a form of inheritedmigraine--the kind that cause debilitating headaches and light flashesknown as auras--target a cellular process involved in brain cellcommunication.
"A number of mutations have been shown to result in familialmigraines," says Dr. Rhoda Blostein--a medical scientist at theResearch Institute of the MUHC, professor in the Department of Medicineand Biochemistry at McGill University, and author of the new study."Discovering genetic mutations that cause disease is important, but inorder to develop treatments we must understand what these mutationsdo." By engineering several genetic mutations known to cause inheritedmigraines (type 2), and incorporating them into human cells, Dr.Blostein and her team showed several genotypes damage the operation ofa tiny cellular mechanism commonly known as the Sodium Pump(Sodium/Potassium ATPase enzyme).
"Much of what happens in your brain--from memory to basicmovement--is the result of the transmission of electrical impulsesalong nerve cells," says Dr. Blostein. "This is a basic process bywhich our brain cells communicate." By expelling sodium from the cell,and drawing potassium from outside, the sodium pump maintains agradient of potassium, which is critical for the propagation ofelectrical signals along nerve cells. Like an air conditioner in theheat of summer, the sodium pump is a massive energy hog, consumingaround 30% of the energy produced by the cell in order to perform thisvital cellular process.
Of particular interest in this study is that some mutationscause migraines by reducing sodium pump efficiency--akin to reducingthe power supply. "This is the first time that a genetic mutation ofthe sodium pump has been shown to cause disease by changing theproperties of this biochemical process, rather than completely turningit off," notes Dr. Blostein. This new understanding of how geneticmutations cause migraines takes us one step closer to the developmentof improved treatments, providing hope to millions of migrainesufferers.
This study was funded by the Canadian Institutes of Health Research (CIHR).
The Research Institute of the McGill University Health Centre(RI MUHC) is a world-renowned biomedical and health-care hospitalresearch centre. Located in Montreal, Quebec, the institute is theresearch arm of the MUHC, a university health center affiliated withthe Faculty of Medicine at McGill University. The institute supportsover 500 researchers, nearly 1000 graduate and post-doctoral studentsand operates more than 300 laboratories devoted to a broad spectrum offundamental and clinical research. The Research Institute operates atthe forefront of knowledge, innovation and technology and isinextricably linked to the clinical programs of the MUHC, ensuring thatpatients benefit directly from the latest research-based knowledge. Forfurther details visit: www.muhc.ca/research.
The McGill University Health Centre (MUHC) is a comprehensiveacademic health institution with an international reputation forexcellence in clinical programs, research and teaching. The MUHC is amerger of five teaching hospitals affiliated with the Faculty ofMedicine at McGill University -- the Montreal Children's, MontrealGeneral, Royal Victoria, and Montreal Neurological Hospitals, as wellas the Montreal Chest Institute. Building on the tradition of medicalleadership of the founding hospitals, the goal of the MUHC is toprovide patient care based on the most advanced knowledge in the healthcare field, and to contribute to the development of new knowledge.
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