Molecular bases of primary monogenic dyslipidemia
Abstract
Dyslipidemia is one of the most common metabolic disorders, the dominant risk factor for diseases of the cardiovascular system. Timely diagnosis and correction of the lipid profile can significantly reduce morbidity and mortality from cardiovascular diseases. An extensive heterogeneous group of diseases leads to persistent changes in the lipid profile. This review includes a description of lipid metabolism, the molecular basis, and clinical characteristics of primary monogenic dyslipidemia. Mutations in twenty-five genes are responsible for most monogenic dyslipidemias. On the basis of changes in the lipid profile, five groups of phenotypes are distinguished with extreme deviation in the levels of lipid profile markers: with high and low levels of low density lipoproteins, with high and low levels of high density lipoproteins, with high levels of triglycerides. For each phenotype, the associated genes are indicated, the gene with the most frequently detected mutations is indicated. The molecular basis of the most common dyslipidemia, familial hypercholesterolemia, is described in detail. Genetic testing of patients with dyslipidemia makes it possible to make an accurate diagnosis, the possibility of cascade examination and counseling of the patient’s family members, the possibility of early diagnosis to prevent or later manifest complications.
About the Authors
O. N. Ivanova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
P. A. Vasiliev
Research Centre for Medical Genetics; Institute of Gene Biology, Russian Academy of Sciences
Russian Federation
Russian Federation
E. Yu. Zakharova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Ivanova O.N., Vasiliev P.A., Zakharova E.Yu. Molecular bases of primary monogenic dyslipidemia. Medical Genetics. 2020;19(12):4-17. (In Russ.)
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