Mitochondrial deoxyribonucleic acid may play a role in a subset of sudden infant death syndrome cases

作者：Laeer K; Vennemann M; Rothaemel T; Klintschar M^*

来源：Acta Paediatrica, 2014, 103(7): 775-779.

DOI：10.1111/apa.12609

• ATP depletion
• Haplogroups
• Mitochondrial DNA
• Sudden infant death syndrome

Aim 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 131days) 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, 13708, 14470, 15904 and 16519. The most prominent result was the A allele in SNP 14470 in male SIDS cases (p=0.01). Conclusion 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.

• 出版日期2014-7