Human lipoprotein lipase deficiency: does chronic dyslipidemia lead to increased oxidative stress and mitochondrial DNA damage in blood cells ?

• Autorzy: Ven M. M. R. , Julien P. , Singh P. , Levy E.
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

blood cell; enzyme; oxidative stress; oxygen free radical; lead; gene mutation; metabolism; lipoprotein lipase; mitochondrial DNA; lymphocyte; reactive oxygen species; DNA damage; chronic dyslipidemia; hypercholesterolemia; hypertriglyceridemia

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 1996
• Tom: 43
• Numer: 1
• Opis fizyczny: p.227-240,fig.

Twórcy

autor

Ven M. M. R.

• Laval University, Quebec, Canada, G1K 7P4

autor

Julien P.

autor

Singh P.

autor

Levy E.

Bibliografia

• 1. Giantureo, S.H. & Bradley, VV.A. (1991) Inglv- ccride-rich lipoproteins and their role in atherogenesis. Curr. Opinion Lipidol. 2,324-328.
• 2. Cutler, R.G. (1991 ) Human longevity and aging: Possible role of reactive oxygen species. YY Acad. Sci. 261,1-28.
• 3. Shoffner, J.M.I. & Wallace, D.C. (1990) Oxidative phosphorylation diseases: Disorders ol two genomes. Adv. Hum. Genet. 19, 267-331.
• 4. Lestienne, P. (1992) Mitochondrial DNA mutations in human diseases: a review. Biochimie 74,123-130.
• 5. Domagala, B., Hartwich, J. & Szczeklik, A. (19S9) Indices of lipid peroxidation in patients with hypercholesterolemia and hypertri- glvceridemia. Wiener Klin. Wochensch. 101, 425 428.
• 6. Schuh, J., Fairclough, G.F., Jr. & Haschemever. R.H. (1978) Oxvgen-mediated helerogeneitv of apo-low-densitv-Iipoprotein. Proc. Natl. Acaii. Sci. U.S.A. 75,3173-3177.
• 7. Szczeklik, A. & Grvglewski, R.J. (1980) Low- density lipoproteins (LDL) are carriers for lipid peroxides and inhibit prostacyclin (PGte) biosynthesis in arteries. Artery 7,488-495.
• 8. Rosenfeld, M.E. (1991) Oxidized LDL affects multiple atherogenic cellular responses. Circulation 83,2137-2140.
• 9. Jurgens, G., Holf, H.F., Chisolm, G.M. & Esterbauer, H. (1987) Modification ot human serum low deasity lipoprotein by oxidation Characterization and pathophysiologic implications. Chem. Phys. Lipids 45,315-336.
• 10. Kosugi, K., Morel, D.W., Dicorielto, P.F.. & Chisolm. G.M. (1987) Toxicity of oxidized low density lipoprotein to cultured fibroblasts is selective tor the S phase of the cell cycle. ]. Cell Physiol. 102,119-127.
• 11. Kassiske, B.L. à Keane, W.F. (1991) Role of lipid peroxidation in the inhibition of mononuclear cell proliferation by normal lipoproteins./. Lipid Res. 32,775-781.
• 12. Steinbrecher, U.P., Zhang, H. & Lougheed, M. (1990) Role of oxidativelv modified LDL in atherosclerosis. Free Radical Biol. Med. 9, 155-168.
• 13. Havel, R.J. & Kane, J.P. (1995) Introduction: structure and metabolism of plasma lipo­proteins; in The Metabolic and Molecular Basis of Inherited Disease(Scriver.C.R., Beaudet, A.L.Siv, W.S. & Valle, D., eds.) vol. 2, pp. 1841-1851, McCraw-11 iII Inc., New York.
• 14. Murthv, V., Julien, P. & Gagné. C. (1996) Molecular pathobiology of the lipoprotein lipase gene. Pharmacol. Ther., in press.
• 15. Hisenberg, S. (1984) High density lipoprotein metabolism. /. Lipid Res. 25, 1017-1058-
• 16. Deeb, S.S. & Peng, R. (1989) Structure of the human lipoprotein lipase gene. Biochemistry 28, 4131-4135, and Correction, published in Biochemistry 28,6786.
• 17. Kirchgessner, T.G., Chuat, J.C., I Ieinzmann, C., Etienne, J., Guilhot, S., Svenson, K., Ameis, D., Pilon, C., d'Auriol, L, Andalibi, A., Schotz, M.C.. Galibert, F. & Lusis, A.J. (1989) Orga­nization of the human lipoprotein lipase gene and evolution of the lipase gene familv. Proc. Natl. Acad. Sci. U.S.A. 86,9647-9651.
• 18. Normand. T., Bergeron, J.. Fernandez Margallo. T., Bharucha, A., Ven Murthy, M.R., Julien, P., Gagné, C., Dionne,C., De Braekeleer, M., Ma. R., Havden, M.R. & Lupien, P.J. (1992) Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Quebec. Human Genet. 89,671-675.
• 19. Dionne, C., Gagné, C., Julien, P., Murthv, M.R., Roederer, G., Davignon, J., Lambert, M., Chitavat, D., Ma, R., 1 lenderson, H., Lupien, P.J., Havden, M.R. & de Braekeleer, M. (1993) Genealogy and regional distribution of lipoprotein lipase deficiency in French- Canadians of Quebec. Human Biol. 65,29-39.
• 20. Bergeron, J., Normand, T., Bharucha, A., Ven Murthy, M.R., Julien, P.. Gagné. C., Dionne, C, De Braekeleer. M.. Brun, D., Havden, M.R. & Lupien, P.J. (1992) Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Quebec. Clin. Genet. 41,206-210.
• 21. Ma, Y., Henderson, 1 I.E., Murthy, V., Roederer, G., Monsalve, M.V., Clarke, L.A., Normand, T., Julien, P.,Gagné.C., Lambert, M., Davignon, J., Lupien. P.J., Brunzell, J.D. & Hayden, M.R. (1991) A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians. New Engl. ]. Med. 324,1761-1766.
• 22. Ma, Y., Wilson. B.I., Bijvoet, S., Henderson. H.E., Cramb, E., Roederer, G., Ven Murthy, M.R., Julien, P., Bakker, H.D.. Kastelein, J.J., Brunzell, J. D. & Hayden. M. R. ( 1992) A missense mu ta tion (Asp250—>Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries. Genomics 13, 649-653.
• 23. Gagné, C, Brun, L.D., Julien, P., Moorjani, S. & Lupien, P.J. (1989) Primary lipoprotein-lipase- activity deficiency: clinical investigation of a French Canadian population. Can. Med. /Issflc. /. 140,405-411.
• 24. Chait, A. & Brunzell, J.D. (1992) Chylomicro­nemia syndrome. Adv. Intern. Med. 37, 249-273.
• 25. deGraaf,J.,Hendriks,J.C.M„ Demacker, P.N.M. & Stalenhoef, A.F.H. (1993) Identification of mulripledenseLDLsubfractions with enhanced susceptibility to in-vitro oxidation among hypertriglyceridemic individuals. Normaliza­tion after clofibrate treatment. Arterioscler. Thromh. 13,712-719.
• 26. Tribble, D.L. (1995) Lipoprotein oxidation in dyslipidemia: insights into general mechanisms affecting lipoprotein oxidative behavior. Curr. Opinion Lipidol. 6,196-208.
• 27. Julien, P., Gagné, C., Murthy, M.R.V., Cantin, B., Cadelis, F., Moorjani, S. & Lupien, P.J. (1994) Mutations of the lipoprotein lipase gene as a cause of dyslipidemias in the Quebec popu­lation. Can. J. Cardiol. 10,54-60.
• 28. Julien, P., Savanurmath, C.J., Halappanavar, S.P., Murthy, M.R.V., l^vesque, G., Cadelis, F., Gagné, C. & Lupien, P.J. (1995) Lipoprotein li­pase gene haplotvpes and dyslipoproteinemias: studv of a French-Canadian cohort; in Athero- sclerosis X. Proc. 10th International Symposium on Atherosclerosis (Woodford, F.P.J. & Sniderman, A.D., eds.) pp. 254-257, Elsevier, Amsterdam, The Netherlands.
• 29. Sniderman, A.D., Julien, P. & Cianflone, K. (1995) Peripheral triglyceride clearance, the adipsin-ASP pathway, and type IV hyperlipo­proteinemia; in Year Book of Endocrinology. (Bagdade, J.D., Braverman, L.E., Cianflone, K., Horton, E.S., Julien, P., Kannan, C.R., Landsberg, L, Molitch, M.E., Nathan, D.M., Odell, W.D., Poehlman, E.T., Rogol, A.D., Ryan, W.G. & Sniderman, A.D., eds.) pp. xix-xxxvii, Mosbv-Year Book Inc., St-Louis, US.A.
• 30. Lestienne, P. (1989) Mitochondrial and nuclear DN A complementation in the respiratory chain function and defects. Biochimie 71,1115-1123.
• 31. Turrens, J.F., Freeman, B.A., Levitt, J.G.&Crapo, J. D.( 1982) The effect of hvperoxia on superoxide production bv kingsubmitochondrial particles. Arch. Biochem. Biophys. 217,401-410.
• 32. Freeman, B.A. (1984) Biological sites and mechanisms of free radical production; in: free Radicals in Molecular Biology, Aging and Disease, (Armstrong, D.,Sohal, R.S., Culler, R.G.& Slater, T.F., eds.) pp. 43-52, Raven Press, New York.
• 33. Bielski, B.H.|. & Richter, H.W. (1977) A study of the superoxide radical chemistry by stopped- How radiolysis and radiation induced oxygen consumption. /. Am. Chem. Soc. 99,3019-3023.
• 34. Harman. D. (1983) Free radical theory of aging: consequences of mitochondrial aging. Age 6, 86-94.
• 35. Harman, D. (1972) l"he biological clock: Hie mitochondria? /. Am. Geriat. Soc. 20,145 147.
• 36. Halliwell, B. (1987) Oxidants and human dise­ase: Some new concepts. Fed. Am. Soc. Exper. Biol. 1,358-364.
• 37. Daum, G. (1985) Lipids of mitochondria. Biochim. Biophys. Acta 822,1-42.
• 38. Bindoli, A. (1988) Lipid peroxidation in mitochondria. Free Radical Biol. Med. 5,247-261.
• 39. Saul, R.L., Gee, P. & Ames, B.N. (1987) Free radicals, DNA damage and aging; in Modern Biological Theories of Aging (Warner, H.R., Butler, R.N., Sprolt, R.L & Schneider, E.L., eds.) pp. 113-129, Raven Press, New York.
• 40. Richter, C, Park, J.W. & Ames, B.N. (1988) Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc. Natl. Acad. Set. U.SA. 85,6465-6467.
• 41. I'omkinson, A.E., Bonk, R.T., Kim, J., Bartfield, N. & Linn, S. (1990) Mammalian mitochondrial endonuclease activities specific for ultraviolet irradiated DNA. Nucleic Acids Res. 18,929-935.
• 42. Cantin, B., Boudriau, S., Bertrand, M., Brun, L.D., Gagné, C. Rogers, P.A., Murthy, M.R.V., Lupien, P.j. & Julien, P. (1995) Hemolysis in primary lipoprotein lipase deficiency. Metabolism 44,652-658.
• 43. Cantin, B.. Brun, L.D., Gagné, C, Murthv, M.R., Lupien. P.J. & Julien, P. (1992) Alterations in erythrocyte membrane lipid composition and fluidity in primary lipoprotein lipase deficiency. Biochim. Biophys. Acta 1139,25-31.
• 44. Hruszkewycz, A.M. (1988) Evidence for mitochondrial damage by lipid peroxidation. Biochem. Biophys. Res. Commun. 153,191-197.
• 45. Hruszkewycz, A.M. (1992) Lipid peroxidation and mtDNA degeneration. A hypothesis. Mutation Res. 275,243-248.
• 46. Williams, W.J., Beutler, E., Erslev, A.J. & Lichtman, M.A. (eds.) (1990) Hematology, 4 edn., McGraw-Hill Inc, New York.
• 47. Singh, P.J., Legault, J., Tremblay, A., Julien, P., Murthy, m.R.V. & Mirault, m'.E. (1995) PCR analysis of mitochondrial DNA from normal and transgenic glutathione peroxidase mice; in Oxidative Stress and Aging, (Cutler, R.G., Packer, L., Bertram, j. & Mori, A., eds.) pp. 179-180, Birkhauser Verlag, Basel, Switzerland.
• 48. Singh, P.J., Murthy, M.R.V., Julien, P. & Mirault. M.E. (1995) Quick preparation of mitochondrial DNA fractions free from nuclear DNA for PCR amplification. Anal. Biochem. 225,152-155.
• 49. Singh, P.J., Murthy, M.R.V., Julien. P. & Mirault, M.E. (1995) Amplification of the entire mitochondrial DNA by PCR in two large over­lapping segments. Anal. Biochem. 225,155-157.
• 50. Julien, P., Gagné, C, Murthy, M.R.V., Lévesque, G., Cadelis, F., Moorjani, S. & Lupien, P.J. (1994) Lipoprotein lipase gene defects as a cause of dyslipidemia: study of a French-Canadian cohort. Atherosclerosis 109,86 (Abstr.).
• 51. Anderson, S., Bankier, A.T., Barrel, B.G., de Bruijn, M.H.C., Coulson, A.R., Drouin, J., Eperon, I.C., Nierlich, D.P., Roc, B.A., Sanger, F., Sclireier, P.l 1., Smith, A.J.I I.,Staden,R.& Young. l.G. (1981) Sequence and organization of the human mitochondrial genome. Nature (London) 290,457-465.