电邮这篇文章 Multiple molecular-genetic defects in a female with mixed hyperlipoproteinemia and earlyischemic heart disease
- 作者: Malyshev PP1, Stambolsky DV1, Meshkov AN1, Davydova Y.V1, Kukharchuk VV1
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- 期: 卷 78, 编号 10 (2003)
- 页面: 61-74
- 栏目: Editorial
- ##submission.dateSubmitted##: 09.04.2020
- ##submission.datePublished##: 15.10.2003
- URL: https://ter-arkhiv.ru/0040-3660/article/view/29674
- ID: 29674
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Aim. Analysis of genes of apolipoprotein E (apoE), LDLP receptor and methylentetrahydrofolate reductase (MTHFR) in a female patient with mixed hyperlipoproteinemia (HLP) and early ischemic
heart disease (IHD).
Material and methods. A patient with a mixed form of HLP and 5 her relatives were examined genetically. The genotype of apoE and MTHFR was determined using a restrictive analysis of PCR fragments. Conformation of one chain DNA was used to analyse gene of LDLP-receptor with following sequencing of anomalous DNA.
Results. The proband had changes in all examined genes: nucleotide replacement of A370T gene of
LDLP receptor, nucleotide replacement of MTHFR gene C677T and e2/z2-genotype ofapoE. None of
the relatives carried more than one polymorphism by the studied genes.
Conclusion. Early IHD in females can be caused by combination of polymorphisms of genes associated with development of atherosclerosis.
heart disease (IHD).
Material and methods. A patient with a mixed form of HLP and 5 her relatives were examined genetically. The genotype of apoE and MTHFR was determined using a restrictive analysis of PCR fragments. Conformation of one chain DNA was used to analyse gene of LDLP-receptor with following sequencing of anomalous DNA.
Results. The proband had changes in all examined genes: nucleotide replacement of A370T gene of
LDLP receptor, nucleotide replacement of MTHFR gene C677T and e2/z2-genotype ofapoE. None of
the relatives carried more than one polymorphism by the studied genes.
Conclusion. Early IHD in females can be caused by combination of polymorphisms of genes associated with development of atherosclerosis.
参考
- Goldstein J. L., Hobbs H. H., Brown M. S. Familial hypercholesterolemia. In: Scriver С R., Beaudet A. L., Sly W. S., Valle D., eds. The metabolic and molecular bases of inherited disease. 7"' ed. New York, NY: McGraw-Hill; 1995. 1981-2030.
- Mahley R. W. Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 1988; 240: 622- 630.
- Utermann G., Hess M., Steinmetz A. Polymorphism of apo E and occurrence of dysbetalipoproteinemia in man. Nature 1977; 269: 604-607.
- Mahley R. W., Rail S. C, Jr. Type III hyperlipoproteinemia (dysbetalipoproteinemia): the role of apolipoprotein E in normal and / abnormal lipoprotein metabolism. In: Scriver С R.,Beaudet A. L., Sly W. S., Valle D., eds. The metabolic and molecular bases of inherited disease. 7lh ed. New York, NY: McGraw-Hill; 1995. 1953-1980.
- Schneider W. J., Kovanen P. Т., Brown M. S. et al. Familial dysbetalipoproteinemia. Abnormal binding of mutant apoprotein E to low-density lipoprotein receptors of human fibroblasts and membranes from liver and adrenals of rats, rabbits, and cows. J. Clin. Invest. 1981; 68: 1075-1085.
- Durand P., Prost M., Loreau N. et al. Impaired homocysteine metabolism and atherothrombotic disease. Lab. Invest. 2001; 81: 645-672.
- Refsum H., Ueland P. M., Nygard O., Vollset S. E. Homocysteine and cardiovascular disease. Ann. Rev. Med. 1998; 49: 31-62.
- Cattaneo M. Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb. Haemost .1999; 81: 165-176.
- Sambrook J., Fritsch E. F., Maniatis T. Molecular cloning. 2"' ed. Cold Springer Harbo: Cold Springer Harbor Laboratory Press.1989.
- Jensen H. K., Jensen L. G., Hansen P. S. et al. High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing. Clin. Chem. 1996; 42: 1140-1146.
- Hixson J. E., Vernier D. T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage withHhal. J. Lipid Res. 1990; 31(3): 545-548.
- Morita H., Taguchi J., Kurihara H. et al. Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease. Circulation 1997; 95: 2032-2036.
- Miller M. Current perspectives on the management of hypertriglyceridemia. Am. Heart. J. 2000; 140: 232-240.
- Mahley R. W., Huang Y., Rail S. C, Jr. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia): questions, quandaries, and paradoxes. J. Lipid Res. 1999; 40: 1933-1949.
- Sakuma N., Iwata S., Ikeuchi R. et al. Coexisting type III hyperlipoproteinemia and familial hypercholesterolemia: a case report. Metabolism 1995; 44: 460-465.
- Carmena R., Roy M., Roederer G. et al. Coexisting dysbetalipoproteinemia and familial hypercholesterolemia. Clinical and laboratory observations. Atherosclerosis 2000; 148: 113-124.
- Gudnason V., Patel D., Sun X-M. et al. Effect of the Stl polymorphism in the LDL receptor gene (Ala 370 to Thr) on lipid levels in healthy individuals. Clin. Genet. 1995; 47: 68-74.
- Humphries S. E., Gallon D., Nicholls P. Genetic testing for familial hypercholesterolemia: practical and ethical issues. Quart. J. Med. 1997; 90: 169-181.
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