Migraine: gene mutations and functional consequences.
OBJECTIVE
Genetic and functional studies of mutations in familial hemiplegic migraine reveal a major role for disturbed ion transport. Gene identification in common, multifactorial migraine remains challenging.


RESULTS
Several new mutations have been identified in FHM1, FHM2 and FHM3 genes. Functional consequences of familial hemiplegic migraine mutations point to an important role for cortical spreading depression in migraine pathophysiology. New genetic approaches have been tested in common migraine - novel chromosomal loci - but no gene variants have been identified.


CONCLUSIONS
Identification and analysis of gene mutations in familial hemiplegic migraine revealed a major role for disturbed ion transport in this disorder. Cellular and transgenic mouse models of familial hemiplegic migraine genes suggest that increased potassium and glutamate play a role in the pathophysiology of the disorder. Despite progress, no genes have been discovered for common migraine.
van den Maagdenberg
Arn M J M
AM
Department of Human Genetics, Leiden, The Netherlands.
Haan
Joost
J
Terwindt
Gisela M
GM
Ferrari
Michel D
MD
D000818:Animals; D001923:Brain Chemistry / Q000235:genetics*; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D008564:Membrane Potentials / Q000235:genetics; D051379:Mice; D008881:Migraine Disorders / Q000235:genetics* / Q000503:physiopathology*; D020325:Migraine with Aura / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics
D007473:Ion Channels; D021122:Protein Subunits