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A mitochondrial DNA polymorphism associated with cardiac arrhythmia investigated in sudden infant death syndrome
Author(s) -
Arnestad Marianne,
Opdal Siri Hauge,
Vege Åshild,
Rognum Torleiv Ole
Publication year - 2007
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2007.00022.x
Subject(s) - sudden infant death syndrome , mitochondrial dna , restriction fragment length polymorphism , medicine , sudden death , long qt syndrome , polymorphism (computer science) , sudden cardiac death , qt interval , genotype , polymerase chain reaction , genetics , cardiology , pediatrics , biology , gene
Aim: Long QT syndrome (LQTS) has been shown to be the cause of death in some cases originally diagnosed as sudden infant death syndrome (SIDS). Such cardiac arrhythmias have also been noted in families with mitochondrial disease, and studies indicate that mitochondrial disease could be involved in SIDS. This makes the mtDNA polymorphism T3394C interesting, as a previous study has shown it to be associated with electrocardiographic (ECG) changes after exercise in a family with LQTS, where some members harboured a KCNH2 mutation. Subjects: A total of 245 SIDS cases and 176 control cases. Methods: DNA was prepared from blood/tissue samples. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were performed to search for the mtDNA polymorphism and KCNH2 mutation. Differences were confirmed by sequencing. Results: The T3394C polymorphism was found in 3 pure SIDS cases (1.5%), 2 borderline SIDS cases (4.4%), 1 case of explained death (1.6%) and 2 living control cases (1.8%) (p = 0.62). The KCNH2 mutation was not found in cases or controls. Conclusion: The mtDNA polymorphism studied was found in a small number of SIDS cases and the frequency did not differ statistically from control subjects, making an association with increased SIDS risk unlikely.

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