Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus

Metabolism. 1997 Apr;46(4):445-9. doi: 10.1016/s0026-0495(97)90064-0.


Since recent studies demonstrated the occurrence of the mitochondrial DNA (mtDNA) mutation A3243G in patients with adult-onset diabetes, an investigation was undertaken to determine the frequency of this mutation in a pediatric population with insulin-dependent diabetes mellitus (IDDM). DNA was extracted from peripheral blood of 270 pediatric patients with IDDM. The presence of the mtDNA A3243G mutation was screened for by minisequencing and mutation-specific ApaI endonuclease restriction after polymerase chain reaction (PCR) amplification of mtDNA. The A3243G mtDNA mutation was not found in any IDDM patients examined. This mutation is uncommon in children with IDDM from various ethnic and racial groups. Therefore, the contribution of the mutation to the pathogenesis of IDDM, if any, is minimal.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus, Type 1 / genetics*
  • Humans
  • Infant
  • Mutation*
  • Polymerase Chain Reaction
  • Restriction Mapping


  • DNA, Mitochondrial