<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Dyslipidemias are a group of diseases, which are characterized by abnormal blood concentrations of cholesterol, triglycerides and/or low-density lipoprotein-cholesterol (LDL-c). Dyslipidemia is a determinant condition for the progress of an atherosclerotic plaque formation. The resulting atherogenicity is due to at least two mechanisms: first, to the accumulation in the plasma of lipid particles that have the capacity to alter the function of the endothelium and deposit at the atheromatous plaque, and second, at an insufficient concentration of multifactorial type of high density lipoprotein-cholesterol (HDL-c), whose function is to protect against the development of atherosclerosis. Its highest prevalence is encountered among individuals with diabetes, hypertension or overweight. Hyperlipidemia is one of the main predisposing factors for the development of cardiovascular disease. Hyperlipidemia can be the result of a genetic condition, the secondary expression of a primary process or the consequence of exogenous factors (food, cultural, socio-economic, <italic>etc</italic>.), all of which lead to the elevation of plasma lipid levels. The objective of this study was to carry out an analysis of the genes involved in the development of dyslipidemias that lead to cardiovascular disease with special emphasis on the proprotein convertase subtilin/kexin type 9 (<italic>PCSK9</italic>) gene. The <italic>PCSK9</italic> gene participates in the development of primary dyslipidemias, mainly familial hypercholesterolemia, currently the pharmacological treatment of choice to reduce LDL-c are statins, however, it has been observed that these have been insufficient to eliminate cardiovascular risk, especially in subjects with primary forms of hypercholesterolemia related to genetic mutations, or statin intolerance.</p></abstract>

Dyslipidemias are a group of diseases, which are characterized by abnormal blood concentrations of cholesterol, triglycerides and/or low-density lipoprotein-cholesterol (LDL-c). Dyslipidemia is a determinant condition for the progress of an atherosclerotic plaque formation. The resulting atherogenicity is due to at least two mechanisms: first, to the accumulation in the plasma of lipid particles that have the capacity to alter the function of the endothelium and deposit at the atheromatous plaque, and second, at an insufficient concentration of multifactorial type of high density lipoprotein-cholesterol (HDL-c), whose function is to protect against the development of atherosclerosis. Its highest prevalence is encountered among individuals with diabetes, hypertension or overweight. Hyperlipidemia is one of the main predisposing factors for the development of cardiovascular disease. Hyperlipidemia can be the result of a genetic condition, the secondary expression of a primary process or the consequence of exogenous factors (food, cultural, socio-economic, etc.), all of which lead to the elevation of plasma lipid levels. The objective of this study was to carry out an analysis of the genes involved in the development of dyslipidemias that lead to cardiovascular disease with special emphasis on the proprotein convertase subtilin/kexin type 9 (PCSK9) gene. The PCSK9 gene participates in the development of primary dyslipidemias, mainly familial hypercholesterolemia, currently the pharmacological treatment of choice to reduce LDL-c are statins, however, it has been observed that these have been insufficient to eliminate cardiovascular risk, especially in subjects with primary forms of hypercholesterolemia related to genetic mutations, or statin intolerance.

<italic>PCSK9</italic> gene participates in the development of primary dyslipidemias

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

 gene participates in the development of primary dyslipidemias

Dyslipidemias are a group of diseases, which are characterized by abnormal blood concentrations of cholesterol, triglycerides and/or low-density...

Electrophoresis	Lipoproteins	Lipids	Diagnosis
chylomicron band at the origin	fasting chylomicronemia	triglycerides; cholesterol	familial hyperchylomicronemia (type I)
β band increased	LDL increased	cholesterol	isolated or severe hypercholesterolemia (type IIA)
pre β band; β increased	VLDL; LDL increased	cholesterol; triglycerides	combined hyperlipidemia (type IIB)
β floating band	β-VLDL (residual chylomicrons; IDL)	triglycerides; cholesterol	hyperlipidemia mixed (type III)
pre β band increased	VLDL	triglycerides	isolated or severe hypertriglyceridemia (type IV)
band of chylomicrons; pre β increased	chylomicrons; VLDL	triglycerides; cholesterol	hypertriglycerdemia (type V)

Gene	Locus	Phenotype
PCSK9	1p32	related to autosomal dominant HAD and elevation of blood cholesterol levels
APOB	2p24-23	increase in blood cholesterol
LDLRAP1/ARH	1p36-35	related to autosomal recessive HAR and accumulation of LDL receptor in cell membranes
APOE	19q13.32	associated with hyperlipoproteinemia type 3, Alzheimer’s disease, lipoproteic glomerulopathy and familial hypercholesterolemia
LDLr	19p13.1-13.3	associated with familial hypercholesterolemia
ABCG5 and ABCG8	2p21	both genes are related to the appearance of sitosterolemia

PCSK9 gene participates in the development of primary dyslipidemias

Article Category: Review article

Pubblicato online: 27 lug 2021

Pagine: 5 - 14

DOI: https://doi.org/10.2478/bjmg-2021-0009

Parole chiave
Cardiovascular diseases, Dyslipidemia; Hyperlipidemia, Proprotein convertase subtilisin/kexin type 9 () gene

© 2021 Matías-Pérez D, Pérez-Santiago AD, Sánchez Medina MA, Alpuche Osorno JJ, García-Montalvo IA, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Classification of hyperlipoproteinemias based on the criteria established by the World Health Organization.

Genes involved in the development of dyslipidemias.

PCSK9 gene participates in the development of primary dyslipidemias

Article Category: Review article

Pubblicato online: 27 lug 2021

Pagine: 5 - 14

DOI: https://doi.org/10.2478/bjmg-2021-0009

Parole chiaveCardiovascular diseases, Dyslipidemia; Hyperlipidemia, Proprotein convertase subtilisin/kexin type 9 () gene

© 2021 Matías-Pérez D, Pérez-Santiago AD, Sánchez Medina MA, Alpuche Osorno JJ, García-Montalvo IA, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Classification of hyperlipoproteinemias based on the criteria established by the World Health Organization.

Genes involved in the development of dyslipidemias.

Parole chiave
Cardiovascular diseases, Dyslipidemia; Hyperlipidemia, Proprotein convertase subtilisin/kexin type 9 () gene