SCREENING FOR THE MITOCHONDRIAL-DNA A3243G MUTATION IN CHILDREN WITH INSULIN-DEPENDENT DIABETES-MELLITUS

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 mutati on in a pediatric population with insulin-dependent diabetes mellitus (IDDM), DNA was extracted from peripheral blood of 270 pediatric patie nts with IDDM, The presence of the mtDNA A3243G mutation was screened for by minisequencing ana mutation-specific Apal endonuclease restrict ion after polymerase chain reaction (PCR) amplification of mtDNA. The A3243G mtDNA mutation was not found in any IDDM patients examined, Thi s mutation is uncommon in children with IDDM from various ethnic and r acial groups, Therefore, the contribution of the mutation to the patho genesis of IDDM, if any, is minimal. Copyright (C) 1997 by W.B. Saunde rs Company.