Possible role of mtDNA mutations in sudden infant death.

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.