PCSK9 gene participates in the development of primary dyslipidemias
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27 lip 2021
O artykule
Kategoria artykułu: Review article
Data publikacji: 27 lip 2021
Zakres stron: 5 - 14
DOI: https://doi.org/10.2478/bjmg-2021-0009
Słowa kluczowe
© 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_
| 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) |
Genes involved in the development of dyslipidemias_
| Gene | Locus | Phenotype |
|---|---|---|
| 1p32 | related to autosomal dominant HAD and elevation of blood cholesterol levels | |
| 2p24-23 | increase in blood cholesterol | |
| 1p36-35 | related to autosomal recessive HAR and accumulation of LDL receptor in cell membranes | |
| 19q13.32 | associated with hyperlipoproteinemia type 3, Alzheimer’s disease, lipoproteic glomerulopathy and familial hypercholesterolemia | |
| 19p13.1-13.3 | associated with familial hypercholesterolemia | |
| 2p21 | both genes are related to the appearance of sitosterolemia |