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

<bold>Background:</bold> Familial Hypercholesterolemia (FH) is an inherited disease, associated with an increased risk of atherosclerosis, manifested clinically as premature coronary heart disease. FH is biochemically characterized by increased Cholesterol and Low-density Lipoprotein Cholesterol serum levels. The diagnosis is often made using clinical scores however, the definitive FH diagnosis should point out the underlying molecular change, which can be: a point mutation within the three major genes, a number of single nucleotide polymorphisms determining the polygenic etiology, or copy number variations in the Low-density lipoprotein receptor gene.
<bold>Objective</bold>: In the present study we investigated copy number variations as a possible etiological factor for FH in a cohort of patients with documented premature coronary heart disease.
<bold>Methods</bold>: The study population consisted of 150 patients with premature coronary heart disease documented by angiography, all being under lipid-lowering therapy, and 20 apparently healthy controls. Serum lipids were assessed using the Cobas Integra 400 plus and commercial reagents. Copy number variations were evaluated with the SALSA MLPA Probemix P062 LDLR kit.
<bold>Results</bold>: Cholesterol, Triglycerides, Low-density Lipoprotein Cholesterol and High-density Lipoprotein Cholesterol showed no difference between patients and controls. No copy number variations were detected in the investigated regions, namely all 18 exons and the promoter region of the Low-density lipoprotein receptor gene.
<bold>Conclusions</bold>: Even in the presence of negative results, the Familial Hypercholesterolemia genetic diagnosis has to be further pursued in the presence of a clinical diagnosis, as the identification of the molecular etiology may bring additional clinical and therapeutical benefits, as well as open the possibility for “cascade screening”.
</abstract>

Background: Familial Hypercholesterolemia (FH) is an inherited disease, associated with an increased risk of atherosclerosis, manifested clinically as premature coronary heart disease. FH is biochemically characterized by increased Cholesterol and Low-density Lipoprotein Cholesterol serum levels. The diagnosis is often made using clinical scores however, the definitive FH diagnosis should point out the underlying molecular change, which can be: a point mutation within the three major genes, a number of single nucleotide polymorphisms determining the polygenic etiology, or copy number variations in the Low-density lipoprotein receptor gene.
Objective: In the present study we investigated copy number variations as a possible etiological factor for FH in a cohort of patients with documented premature coronary heart disease.
Methods: The study population consisted of 150 patients with premature coronary heart disease documented by angiography, all being under lipid-lowering therapy, and 20 apparently healthy controls. Serum lipids were assessed using the Cobas Integra 400 plus and commercial reagents. Copy number variations were evaluated with the SALSA MLPA Probemix P062 LDLR kit.
Results: Cholesterol, Triglycerides, Low-density Lipoprotein Cholesterol and High-density Lipoprotein Cholesterol showed no difference between patients and controls. No copy number variations were detected in the investigated regions, namely all 18 exons and the promoter region of the Low-density lipoprotein receptor gene.
Conclusions: Even in the presence of negative results, the Familial Hypercholesterolemia genetic diagnosis has to be further pursued in the presence of a clinical diagnosis, as the identification of the molecular etiology may bring additional clinical and therapeutical benefits, as well as open the possibility for “cascade screening”.

The utility of MLPA in Familial Hypercholesterolemia diagnosis

George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures

Center for Advanced Medical and Pharmaceutical Research, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures

Acta Marisiensis - Seria Medica

This work is licensed under the Creative Commons Attribution 4.0 International License.

{"article-title":"The utility of MLPA in Familial Hypercholesterolemia diagnosis"}

Background: Familial Hypercholesterolemia (FH) is an inherited disease, associated with an increased risk of atherosclerosis, manifested clinically as...

The utility of MLPA in Familial Hypercholesterolemia diagnosis

Published Online: Oct 05, 2021

Page range: 162 - 166

Received: Jun 15, 2021

Accepted: Jul 21, 2021

DOI: https://doi.org/10.2478/amma-2021-0021

Keywords
familial hypercholesterolemia, atherosclerosis, premature coronary heart disease, low-density lipoprotein receptor

© 2021 George Valeriu Moldovan et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

The utility of MLPA in Familial Hypercholesterolemia diagnosis

Published Online: Oct 05, 2021

Page range: 162 - 166

Received: Jun 15, 2021

Accepted: Jul 21, 2021

DOI: https://doi.org/10.2478/amma-2021-0021

Keywordsfamilial hypercholesterolemia, atherosclerosis, premature coronary heart disease, low-density lipoprotein receptor

© 2021 George Valeriu Moldovan et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Keywords
familial hypercholesterolemia, atherosclerosis, premature coronary heart disease, low-density lipoprotein receptor