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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
[Familial hypercholesterolemia in Tunisia].
A Jelassi1, I Jguirim, M Najah
1Unité de recherche sur les facteurs génétiques et biologiques de l'athérosclérose, laboratoire de biochimie, faculté de médecine de Monastir, 5019 Monastir, Tunisie.
Pathologie-Biologie
|December 2, 2008
Summary
Familial hypercholesterolemia, a genetic disorder causing high LDL cholesterol, is more common in Tunisia than in Europe. Genetic analysis in Tunisia has identified LDLR mutations but not APOB or PCSK9 mutations.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Biochemistry
Background:
- Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevated serum low-density lipoprotein (LDL)-cholesterol levels.
- This condition leads to cholesterol deposition in tissues, accelerating atherosclerosis and increasing the risk of premature coronary heart disease.
- FH typically results from defects in the LDL receptor pathway, commonly caused by mutations in the LDL receptor (LDLR), apolipoprotein B (APOB), or PCSK9 genes.
Purpose of the Study:
- To investigate the genetic basis and prevalence of Familial hypercholesterolemia in the Tunisian population.
- To compare the frequency of FH in Tunisia with that reported in European countries.
- To identify specific genetic mutations responsible for FH in Tunisia, focusing on LDLR, APOB, and PCSK9 genes.
Main Methods:
- Review of existing literature and genetic databases pertaining to Familial hypercholesterolemia.
- Analysis of reported mutation data for LDLR, APOB, and PCSK9 genes in the Tunisian population.
- Comparison of FH carrier frequencies between Tunisia and European populations.
Main Results:
- The frequency of heterozygous Familial hypercholesterolemia in Tunisia is approximately 1 in 165, significantly higher than the European frequency of about 1 in 500.
- Five mutations within the LDLR gene have been reported in the Tunisian population.
- No mutations in the APOB or PCSK9 genes associated with Familial hypercholesterolemia have been reported in Tunisia to date.
Conclusions:
- Familial hypercholesterolemia exhibits a considerably higher prevalence in Tunisia compared to European populations.
- The genetic landscape of FH in Tunisia appears to be primarily associated with mutations in the LDLR gene.
- Further research is warranted to explore potential novel mutations and the full spectrum of genetic contributors to FH in this region, including APOB and PCSK9.
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