Association of human mitochondrial DNA variants with plasma LDL levels

Increasing evidence supports the relationship between mitochondrial DNA variability and differences in energy metabolism, which may have pathophenotypic consequences. MtDNA pathological mutation has been also described to be associated with hypercholesterolemia. The target of this work consisted in...

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Bibliographic Details
Published in:Mitochondrion 2008-06, Vol.8 (3), p.247-253
Main Authors: Dahmani, Yahya, Marcuello, Ana, Díez-Sanchez, Carmen, Ruiz-Pesini, Eduardo, Montoya, Julio, López-Pérez, Manuel J
Format: Article
Language:English
Subjects:
Alleles
Cholesterol, LDL - blood
DNA, Mitochondrial - genetics
European Continental Ancestry Group
Gene Frequency
Genetic Variation
Haplotypes
Humans
Life Style
Physical Fitness
Polymorphism, Restriction Fragment Length
Sequence Analysis, DNA
Sports
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Summary:Increasing evidence supports the relationship between mitochondrial DNA variability and differences in energy metabolism, which may have pathophenotypic consequences. MtDNA pathological mutation has been also described to be associated with hypercholesterolemia. The target of this work consisted in studying the possible existence of an association between the mitochondrial DNA variability and plasma cholesterol levels. For this, two populations of 61 sedentary and 83 sportsmen were used to estimate the association of the lipidemic levels with the mitochondrial DNA variant harboured by them. Triglycerides, HDL-c, LDL-c and cholesterol/HDL-c were essayed, and mitochondrial DNA polymorphisms were assessed by HVR I sequencing and PCR/RFLP analysis. Major Caucasian mtDNA clades (HV, JT, U and IWX) did not associate with lipidemic levels in the sedentary population. However, in the case of a more disciplined population in term of nutritional habits and life style as sportsmen are, a significantly higher and lower level of LDL-c was associated with HV and JT clade, respectively. This observation could have relevant significance for metabolic distress diseases affecting plasma cholesterol levels.
ISSN:1567-7249
DOI:10.1016/j.mito.2008.04.002