title: Human lipoprotein lipase deficiency: does chronic dyslipidemia lead to increased oxidative stress and mitochondrial DNA damage in blood cells?
abstract: Lipoprotein lipase (LPL) is a key enzyme in the metabolism of lipoproteins and their balanced distribution in the plasma. A deficiency of this enzyme due to gene mutations leads to severe dyslipidemia. In this report, we describe the major LPL gene mutations that are prevalent in the French-Canadian population of Québec and the nature of dyslipidemia caused by the resulting enzyme deficiency. We discuss the possibility that dyslipidemia caused by LPL deficiency may enhance oxidative stress in the blood cells, bring about increased fluidity of the membrane components of these cells and increase the susceptibility of their mitochondrial DNA to structural alterations. Some preliminary experimental results in verification of this hypothesis are presented.
authors.affiliation: Department of Biochemistry, Faculty of Medicine, Laval University, Québec, Canada.
authors.forename: M R
authors.initials: MR
authors.lastname: Ven Murthy
authors.forename: P
authors.initials: P
authors.lastname: Julien
authors.forename: P
authors.initials: P
authors.lastname: Singh
authors.forename: E
authors.initials: E
authors.lastname: Levy
mesh_terms: D000818:Animals; D001483:Base Sequence; D001808:Blood Vessels / Q000378:metabolism*; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D004249:DNA Damage; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000097:blood / Q000235:genetics* / Q000503:physiopathology; D008071:Lipoprotein Lipase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D008074:Lipoproteins / Q000097:blood; D008954:Models, Biological; D018384:Oxidative Stress; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial; D008074:Lipoproteins; D008071:Lipoprotein Lipase