Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility

Lea, Rod A., Curtain, Robert P., Hutchins, Colin, Brimage, Peter J., & Griffiths, Lyn R. (2001) Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility. American Journal of Medical Genetics, 105(8), pp. 707-712.

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Typical migraine is a complex neurological disorder comprised of two main subtypes: migraine with (MA) and without aura (MO). The disease etiology is still unclear, but family studies provide strong evidence that defective genes play an important role. Familial hemiplegic migraine (FHM) is a very rare and severe subtype of MA. It has been proposed that FHM and MA may have a similar genetic etiology. Therefore, genetic studies on FHM provide a useful model for investigating the more prevalent types of typical migraine. FHM in some families has been shown to be caused by mutations in a brain-specific P/Q-type calcium channel alpha1 subunit gene (CACNA1A) on chromosome 19p13. There has also been a report of a CACNA1A mutation being associated with MA in a patient from a family with predominant FHM. We have previously demonstrated suggestive linkage of typical migraine in a large Australian family to the FHM region on chromosome 19p13. These findings suggest that CACNA1A may also be implicated in the etiology of typical migraine in this pedigree. To investigate this possibility, we sequenced two patients carrying the critical susceptibility haplotype surrounding CACNA1A. No disease-causing mutations or polymorphisms were revealed in any of the 47 exons screened. To determine whether the CACNA1A gene was implicated in typical migraine susceptibility in the general Caucasian population, we also analyzed 82 independent pedigrees and a large case control group. We did not detect any linkage or association in these groups and conclude that if CACNA1A plays a role in typical migraine, it does not confer a major effect on the disease.

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32 citations in Web of Science®
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ID Code: 62849
Item Type: Journal Article
Refereed: Yes
DOI: 10.1002/ajmg.1609
ISSN: 1096-8628
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2001 John Wiley & Sons, Inc.
Deposited On: 24 Sep 2013 03:27
Last Modified: 24 Sep 2013 03:27

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