ABSTRACT
BACKGROUND AND PURPOSE: Migraine is a genetically heterogeneous disorder that is frequently associated with a familial history, and mitochondrial dysfunction has been suggested to be associated with its pathogenesis. We screened and scanned mitochondrial gene polymorphisms to determine the significance of mitochondrial DNA mutations in Korean migraineurs. METHODS: One hundred and sixty-four migraineurs aged 33.9+/-11.7 years (mean+/-SD range 12 to 65 years) were studied. Clinical data of the familial history were obtained, and blood samples were collected for DNA purification. An A-to-G substitution at mitochondrial DNA (mtDNA) position 11,084 (A11084G) was determined by a polymerase chain reaction (PCR) with BsmI restriction. In addition, new single-nucleotide polymorphism (SNP) sites in the mitochondrial genome were scanned for using PCR and direct sequencing. RESULTS: Ninety-eight migraine patients (59.8%) had a maternal familial history. The A11084G polymorphism, which was previously reported in 25% of Japanese migraineurs, was not evident in our Korean migraine patients. However, scanning of new SNP sites in mtDNA revealed six candidate SNPs whose incidences were higher in migraine patients than in normal subjects. CONCLUSIONS: Our study found no association between the A11084G polymorphism in mitochondrial DNA and migraine in Koreans. However, we found potential new mitochondrial SNP sites in Korean migraineurs, which warrant further investigation.