Mitochondrial gene mutations in patients with insulin-dependent diabetes mellitus in Taiwan
Journal
Pancreas
Journal Volume
12
Journal Issue
3
Pages
243-247
Date Issued
1996
Author(s)
Abstract
We studied the prevalence of mitochondrial gene mutations in subjects with insulin-dependent diabetes mellitus (IDDM) in a Chinese population living in Taiwan. Eighty-four subjects with insulin-dependent diabetes mellitus and 105 unrelated normal controls were recruited in the present study. Both an A-to- G mutation at position 3243 and a mutation at position 8,344 of the mitochondrial DNA were screened by polymerase chain reaction-restriction fragment length polymorphism methods and confirmed by direct DNA sequence analysis. The insulin secretory response was assessed by the C-peptide response to glucagon administration. Among 84 IDDM patients, two (2.4%) subjects were found to carry the 3,243 nucleotide pair (np) mutation. There was no np 8,344 mutation in this series. Of the two subjects carrying a mitochondrial gene mutation, case 1 manifested initially as gestational diabetes mellitus. Manifestation of case 2 was consistent with MELAS, a syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke- like episodes. The pancreatic β cell reserve was reduced, as the glucagon- stimulated C-peptide response was very low in these two cases. HLA genotyping studies revealed that case 2 carried DRB1*0301-DQA1*0501- DQB*0201/DRB1*0405-DQA1*0301-DQB1*0302, which was the most susceptible genotype to IDDM in our population. Anti-GAD65 antibody was also positive in this patient. In addition to the nuclear genes, a defective mitochondrial gene might contribute to some of the clinical cases with IDDM.
SDGs
Other Subjects
mitochondrial DNA; article; controlled study; DNA sequence; gene mutation; HLA system; human; insulin dependent diabetes mellitus; major clinical study; pancreas islet beta cell; priority journal; Taiwan
Publisher
Lippincott Williams and Wilkins
Type
journal article