Background
The genetic and molecular basis of migraine is still unknown. Clinical similarities bet- ween migraine and mitochondrial encephalomyopathies and the bias toward maternal transmission in family studies suggest that mitochondrial DNA(mtDNA) may play a role in migraine pathogenesis. An A-11,084-G substitution at mtDNA, has been reported in 25% of Japanese migraineurs. In contrast, in Danish individuals, this A-to-G mutation at mtDNA 11,084 was detected neither in persons with mig- raine nor in persons who had never had migraine. The aim of the present study was to investigate the frequency of this mutation in Korean migraineurs. Methods: One hundred migraineurs were studied after obtaining informed consent. A diagnosis of migraine was made on the basis of the International Headache Society criteria. DNA was purified from whole blood using DNA purification kit. For the analysis of mitochondrial nucleotide A-11,084-G substi- tution, mtDNA(bases 10,835 to 11,236) was amplified by polymerase chain reaction(PCR) using primers described previously. An A-11,084-G substitution generates BsmI restriction site. BsmI site containing PCR product(13,031~13,610 bases) was also amplified for positive-control. The amplified products were digested with 1 unit of BsmI, and were sized on a 1% TAE agarose gel with 100-bp DNA ladder marker. Results: None of the PCR products were cleaved by BsmI, whereas the positive controls were all digested by BsmI. We failed to detect the mtDNA A-11084-G substitution in our Korean patients with migraine. Conclusions: Mitochondrial DNA A to G polymorphism at 11,084 is not a risk factor for Korean mig- raineurs. This mutation may be rare in non-Japanese populations, which suggests ethnic difference in SNP genotype. Korean Journal of Headache 3(2):111-115, 2002