Abstract Details

Title Mitochondrial DNA Variation in Sudden Cardiac Death: A Population-based Study

Topic General Neurology

Presentation(s) S21 - Neuroepidemiology (4:42 PM-4:54 PM)

Poster/Presentation
Number 007

Objective To investigate the frequency of pathogenic mitochondrial DNA (mtDNA) mutations and that of mtDNA haplogroups in a large, population-based autopsy cohort of Finnish subjects that died from non-ishaemic sudden cardiac death (SCD).

Background Cardiomyopathy and cardiac conduction defects are common manifestations of mitochondrial disease. Previous studies suggest that clinically asymptomatic individuals harbouring pathogenic mtDNA mutations in the cardiac muscle may have SCD as the first manifestation of mitochondrial disease. However, the contribution of pathogenic mtDNA changes and the mtDNA haplogroups to the risk of SCD in population has been unknown.

Design/Methods

We investigated pathogenic mtDNA point mutations and mtDNA haplogroups in cardiac muscle in a cohort of 280 Finnish subjects derived from the to date largest autopsy validated SCD population (Fingesture study) and in 537 population controls. Non-ischaemic SCD was determined as cause of death by autopsy; the median age of death in SCD subjects was at 59 years.

Results

We did not find any common or novel pathogenic mutations, but the frequency of haplogroup H1 was higher in the SCD subjects than that in 537 population controls (odds ratio: 1.76, confidence interval 95 %: 1.02-3.04).

Conclusions

We conclude that, at the population level, pathogenic point mutations in mtDNA do not contribute to non-ischaemic SCD. We report an association between SCD risk and mtDNA haplogroup H1, suggesting that variation of mitochondrial energetics may modify the risk of SCD in population.

Authors/Disclosures
Mika Martikainen PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Kari G. Majamaa, MD, PhD	No disclosure on file

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