title: Possible role of mtDNA mutations in sudden infant death.
abstract: Variation in hypervariable region I (HVR-I) and mutations in coding areas of mtDNA were studied in 257 patients of sudden infant death caused by infections, sudden infant death syndrome (SIDS), and borderline SIDS and in a control group of 102 living infants. Nine different point mutations were detected in the coding areas investigated: T3290C, T3308C, T3308G (three patients), A9299G (two patients), G9300A (two patients), T10034C (nine patients), A10042T, C10043T, and A10044G. An association was found between a high number of HVR-I substitutions and potentially pathogenic mtDNA point mutations in coding areas (P = 0.024, odds ratio = 1.3). The mean number of substitutions in HVR-I was 3.28 in the infectious death group, 2.63 in the borderline SIDS group, 2.58 in the SIDS group, and 2.02 in the control group (P = 0.005). In coding areas, 11.1% of the infectious death patients had a mutation, and the same was true for 9.8% of the borderline SIDS patients, 5.6% of the SIDS patients, and 2.9% of the control subjects (P = 0.21). The results indicate that increased levels of HVR-I substitutions may be an indicator of mtDNA instability. Furthermore, mtDNA mutations may play a role in some patients with sudden unexpected infant death that was unexplained or thought to be caused by infection.
authors.affiliation: Institute of Forensic Medicine, University of Oslo, Oslo, Norway.
authors.forename: Siri H
authors.initials: SH
authors.lastname: Opdal
authors.forename: Ashild
authors.initials: A
authors.lastname: Vege
authors.forename: Thore
authors.initials: T
authors.lastname: Egeland
authors.forename: Musse A
authors.initials: MA
authors.lastname: Musse
authors.forename: Torleiv O
authors.initials: TO
authors.lastname: Rognum
mesh_terms: D022801:Complementarity Determining Regions / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007239:Infections / Q000235:genetics / Q000401:mortality; D008297:Male; D017354:Point Mutation; D012346:RNA, Transfer, Amino Acyl / Q000235:genetics; D013398:Sudden Infant Death / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D022801:Complementarity Determining Regions; D004272:DNA, Mitochondrial; D012346:RNA, Transfer, Amino Acyl