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

• Published in: Acta Paediatrica 1999-09, Vol.88 (9), p.957-960
• Main Authors: Opdal, SH, Rognum, TO, Torgersen, H, Vege, Å
• Format: Article
• Language: English
• Subjects: Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; DNA, Mitochondrial - genetics; Electrophoresis; Emergency and intensive care: neonates and children. Prematurity. Sudden death; Female; Humans; Infant; Infant, Newborn; Intensive care medicine; Male; Medical sciences; Point Mutation; Polymerase Chain Reaction; Sudden Infant Death - genetics; Sudden Infant Death - pathology
• ISSN: 0803-5253; 1651-2227
• DOI: 10.1111/j.1651-2227.1999.tb00189.x

The aim of this study was to investigate the tRNALeu (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. □Mitochondrial DNA, ND1, sudden infant death syndrome, tRNALeu(UUR)