title: Mitochondrial deoxyribonucleic acid may play a role in a subset of sudden infant death syndrome cases.
abstract: OBJECTIVE
  It has been suggested that progressive adenosine triphosphate (ATP) depletion could play a key role in sudden infant death syndrome (SIDS). Because mitochondrial deoxyribonucleic acid (mtDNA) codes for a subset of essential genes for oxidative phosphorylation, we investigated 22 mtDNA polymorphisms in a large sample of Caucasian SIDS cases.
  
  
  METHODS
  A total of 774 samples were analysed, 365 from infant SIDS cases (mean age 131 days) and 409 from controls. These were investigated for the presence of 22 haplogroup-specific single nucleotide polymorphisms (SNPs), using a SNaPshot assay, a mini-sequencing assay that combines polymerase chain reaction (PCR) and sequencing.
  
  
  RESULTS
  No significant differences in assigned haplogroups could be detected between the groups. With regard to gender and age, we found significant correlations for SNP positions 3010, 8251, 13 708, 14 470, 15 904 and 16 519. The most prominent result was the A allele in SNP 14 470 in male SIDS cases (p = 0.01).
  
  
  CONCLUSIONS
  This is the largest study on mtDNA polymorphisms in SIDS to date, and our results indicate that mtDNA may play a role in a subset of SIDS cases. In order to complement these significant results, it is important to consider nuclear gene coding for mitochondrial proteins in future studies.
authors.forename: K
authors.initials: K
authors.lastname: Läer
authors.forename: M
authors.initials: M
authors.lastname: Vennemann
authors.forename: T
authors.initials: T
authors.lastname: Rothämel
authors.forename: M
authors.initials: M
authors.lastname: Klintschar
mesh_terms: D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000737:chemistry*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013398:Sudden Infant Death / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial