Hc. Lee et al., MITOCHONDRIAL GENE-TRANSFER RIBONUCLEIC-ACID (TRNA)(LEU(UUR))-3243 AND TRNA(LYS)-8344 MUTATIONS AND DIABETES-MELLITUS IN KOREA, The Journal of clinical endocrinology and metabolism, 82(2), 1997, pp. 372-374
The high prevalence of diabetic patients with a mutation in the mitoch
ondrial gene (the 3243 and 8344 bp mutations) has been identified in J
apan. To determine the prevalence of diabetic patients with those muta
tions in Korea, we randomly screened selected 503 clinical diabetic pa
tients regardless of their diabetes types. We found only 1 patient wit
h the mitochondrial DNA mutation at position 3243 (percent mutation, 3
2%), and the mitochondrial DNA mutation at position 8344 was not found
in any of the patients. The affected subject was a 22-yr-old man with
a history of myoclonic epilepsy and mild sensorineural hearing loss,
a 1-yr duration of diabetes mellitus, and a low level C peptide respon
se to oral glucose. Because of the low frequency of these mutations in
the Korean diabetic population, we concluded that these particular mu
tations of mitochondrial DNA may not be a common contributor to diabet
es mellitus in Korea.