To print: Select File and then Print from your browser's menu --------------------------------------------------------------------------------------- Title: IHC: Gene Mutation Identified for Familial Hemiplegic Migraine Type 2 URL: http://www.pslgroup.com/dg/23B166.htm Doctor's Guide September 30, 2003
By Larry Schuster ROME, ITALY -- September 30, 2003 -- Italian researchers have identified a gene mutation on chromosome 1 that is associated with 10% to 20% of familial hemiplegic migraine type 2 (FHM2), according to a report presented here on September 15th at the 11th Congress of the International Headache Society. Giorgio Casari, PhD, department of neuroscience, San Raffaele Scientific Institute, Milan, Italy, and his research team narrowed the FHM2 locus by linkage analysis on 2 large Italian families affected by pure familial hemiplegic migraine. Dr. Casari said their research demonstrated that mutations of the alpha 2 subunit of the sodium-potassium pump are responsible for FHM2. "Functional data show that a putative pathogenetic mechanism is triggered by a loss of function of a single allele of the sodium potassium pump," Dr. Casari reported. Commenting on the report in her summary of the day's most significant papers, Marie-Germaine Bousser, MD, department of neurology, Lariboisière Hospital, Paris, France, called the presentation the "highlight of [the] day" and an "important finding" that links loss of genetic function to this inherited form of migraine. Dr. Bousser said this report makes migraine the first human disease associated with this potassium-pump gene mutation, and will allow researchers to refine the phenotype-genotype correlation in familial hemiplegic migraine. "This has already been studied," Dr. Bousser noted, citing an article published by a member of her group last year in the New England Journal of Medicine. "But now it will be even better with identification of the gene." "Further," said Dr. Bousser, "identification gives new insights into the physiology of migraine attacks." She noted that the sodium-potassium pump is expressed mostly in astrocytes, not in neurons, which is the site of other pathophysiology. For example, she said, "there are experimental data suggesting an involvement of astroglial cells in spreading depression." "This discovery broadens the spectrum of ion disorders at the membrane level in migraine," Dr. Bousser concluded. Still, in 30% of families, familial hemiplegic migraine cannot be linked to either that gene or a previously discovered mutation on chromosome 19. "It's too early to know the implications of the usual variety of migraine that we see every day," she added. [Study title: Haploinsufficency of Na,K Pump Alpha 2 Subunit Gene is Responsible for Familial Hemiplegic Migraine Type 2. Abstract 4.2] --------------------------------------------------------------------------------------------- Copyright © 1999 P\S\L Consulting Group Inc. All rights reserved. Republication or redistribution of P\S\L content is expressly prohibited without the prior written consent of P\S\L. P\S\L shall not be liable for any errors, omissions or delays in this content or any other content on its sites, newsletters or other publications, nor for any decisions or actions taken in reliance on such content. --------------------------------------------------------------------------------------------- This news story was printed from *Doctor's Guide to the Internet* located at http://www.docguide.com --------------------------------------------------------------------------------------- Return to News Story Page This site is maintained by webmaster@pslgroup.com Please contact us with any comments, problems or bugs. All contents Copyright (c) 1998 P\S\L Consulting Group Inc. All rights reserved.