Is the CACNA1A gene involved in familial migraine with aura?
The discovery of mutations in the neural calcium channel (CACNA1A) gene in familial hemiplegic migraine (FHM), variant of migraine with aura, led to the suggestion that this gene might be involved in familial migraine with aura (FMA). We investigated whether the mutations in FHM are present in FMA patients, analyzing genomic DNA by PCR, single stranded conformation polymorphism, sequencing and restriction enzyme. No mutations were found. A known polymorphism (5682-14C>T) was found in exon 36. These findings suggest that the mutations found in FHM and the other known mutations of the CACNA1A gene are not the genetic basis of FMA. Genetic alterations in FMA patients may be localized on chromosome 19 but not in the CACNA1A exons we investigated.
Department of Neuromuscular Diseases, C. Besta National Neurological Institute, Milan, Italy.
R
R
Brugnoni
M
M
Leone
A
A
Rigamonti
E
E
Moranduzzo
F
F
Cornelio
R
R
Mantegazza
G
G
Bussone
D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D015220:Calcium Channels / Q000235:genetics* / Q000378:metabolism; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020325:Migraine with Aura / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type