Mitochondrial DNA mutations in pancreatic biopsy specimens from IDDM patients

Abstract We investigated the contribution of mitochondrial DNA mutations to the pathogenesis of IDDM by analyzing mitochondrial DNA in pancreatic biopsy specimens and peripheral blood cells from 18 patients with newly-diagnosed IDDM. All patients presented with typical abrupt onset of diabetes and ketosis on initial examination. Point mutations at nucleotides 3243, 3271 and 8344 were assayed by polymerase chain reaction and restriction fragment length polymorphism analysis or by mismatch-primer analysis. A common large deletion from nucleotides 8483–13459 was analyzed by a primer shift method. All of these mutations are known to be pathogenic mutations. However, none of the mitochondrial DNA mutations were detected in any of 18 IDDM patients. Several types of mitochondrial DNA mutation have been identified in the peripheral blood cells in some patients with non-insulin-dependent diabetes mellitus as well as in some with IDDM, however, our results suggest that abrupt-onset IDDM does not correlate with any of the known mitochondrial DNA mutations.