Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome

Acta Paediatr. 1999 Sep;88(9):957-60. doi: 10.1080/08035259950168441.


The aim of this study was to investigate the tRNA(Leu(UUR)) gene and the first part of the ND1 gene in mitochondrial DNA (mtDNA) in cases of sudden infant death syndrome (SIDS). A total of 158 cases of SIDS and 97 controls were included in the study, and the base pairs in the range 3230-3330 were investigated using polymerase chain reaction (PCR) and temporal temperature gradient electrophoresis (TTGE). If a band shift was detected by TTGE, the area investigated and the D-loop was sequenced. Three different point mutations (T3290C, T3308C and T3308G) were detected in four of the SIDS cases, while none of the controls were mutated. We also found a high D-loop substitution rate in these four cases. The findings indicate that mtDNA mutations may play a role in some cases of SIDS.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA, Mitochondrial / genetics*
  • Electrophoresis
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Point Mutation*
  • Polymerase Chain Reaction
  • Sudden Infant Death / genetics*
  • Sudden Infant Death / pathology


  • DNA, Mitochondrial