Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.

Marcos Palacio Rojas,Trina Núñez Nava,Rosanna D’Addosio,Carlos Garicano,Juan Salazar,Santiago Maldonado Parra,Clímaco Cano,Arturo Pérez,Natalia González Martínez,Carem Prieto,Joselyn Rojas,María Sofía Martínez,Kyle Hoedebecke,Edward Rojas,Valmore Bermúdez,Paulo Marca Vicuña

doi:10.12688/f1000research.12938.2

Abstract

The direct link between lipid metabolism alterations and the increase of cardiovascular risk are well documented. Dyslipidemias, including isolated high LDL-c or mixed dyslipidemia, such as those seen in diabetes (hypertriglyceridemia, high LDL-c or low HDL-c), correlate with a significant risk of cardiovascular and cerebrovascular disease worldwide. This review analyzes the current knowledge concerning the genetic basis of lipid metabolism alterations, emphasizing lipoprotein lipase gene mutations and the HindIII polymorphism, which are associated with decreased levels of triglycerides and LDL-c, as well as higher levels of HDL-c. These patterns would be associated with decreased global morbidity and mortality, providing protection against cardiovascular and cerebrovascular diseases.

Highlights

The direct link between lipid metabolism alterations and the increase of cardiovascular risk are well documented
High TC, TAG and LDL-C, as well as decreased serum HDL-C, are frequently associated with low physical activity and poor eating habits, but there is a large number of mutations and single nucleotide polymorphism related to a specific protein dysfunction within major lipoprotein metabolism pathways like CETP, ApoA, lecithin cholesterol acyl transferase (LCAT), LDL receptor, Apo B-100 and LPL
The uncommon allele (G or H-) with an absence of restriction HindIII enzyme exhibits a lower prevalence of at least 20% according to the current available literature

Summary

30 Nov 2017 report report

Any mutations on the LPL gene, which results in a partial deficiency of the enzyme, will cause an increase in TG concentration This is the basis of familial chylomicronemia, familial dyslipidemia type I or familial hypertriglyceridemia; These are monogenic diseases with autosomal recessive inheritance, consisting with pure hypertriglyceridemia, TG values of 300 to 800 mg/dl, cholesterol

Conclusions

18. Miller M

55. Eckel RH

Findings

Galton DJ