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

M M Abad1, P D Cotter, F H Fodor

  • 1Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.

Metabolism: Clinical and Experimental
|April 1, 1997
PubMed

Insights

The mitochondrial DNA (mtDNA) A3243G mutation, linked to adult diabetes, was not found in pediatric insulin-dependent diabetes mellitus (IDDM) patients. This suggests the mutation plays a minimal role in childhood IDDM development.

Area of Science:

  • Genetics
  • Molecular Biology
  • Endocrinology

Background:

  • Recent studies identified the mitochondrial DNA (mtDNA) A3243G mutation in adult-onset diabetes.
  • The role of this specific mtDNA mutation in pediatric diabetes remains unclear.

Purpose of the Study:

  • To determine the frequency of the mtDNA A3243G mutation in a pediatric population diagnosed with insulin-dependent diabetes mellitus (IDDM).

Main Methods:

  • DNA was extracted from the peripheral blood of 270 pediatric IDDM patients.
  • Minisequencing and ApaI endonuclease restriction after PCR amplification were used to screen for the mtDNA A3243G mutation.

Main Results:

  • The A3243G mtDNA mutation was not detected in any of the pediatric IDDM patients studied.
  • The mutation was found to be uncommon across diverse ethnic and racial groups within the pediatric IDDM cohort.

Conclusions:

  • The mitochondrial DNA A3243G mutation is rare in children with insulin-dependent diabetes mellitus.
  • The contribution of the A3243G mtDNA mutation to the pathogenesis of pediatric IDDM is likely minimal.

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