[Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population].

Abstract

BACKGROUND AND OBJECTIVE:

To compare the lipoprotein phenotype between FDB and heterozygous familial hypercholesterolemia (FH); to study the prevalence and possible founder effect of familial ligand-defective apo B100 (FDB) in a Mediterranean population, and to analyze the clinical and biochemical characteristics of FDB patients.

SUBJECTS AND METHOD:

We studied 19 heterozygous FDB subjects (8 males) from 12 related families, carriers of the R3500Q mutation on the apo B gene, and 57 heterozygous FH (24 males) genetically characterized, randomly selected from a total of 213 FH. The genetic diagnosis was established with Southern blot analysis, PCR-SSCP analysis and automatic sequencing. In all subjects, plasma lipids and apolipoprotein levels were determined with standard procedures.

RESULTS:

We demonstrated a founder effect for the R3500Q mutation in a geographically isolated rural area from our community. The prevalence of FDB in this area is high: 4/350. Heterozygous FDB subjects showed a statistical significantly lower prevalence of xanthomas and coronary heart disease, plasma concentrations of total and LDL cholesterol, HDL cholesterol, apo B and apo A-I values than heterozygous FH subjects.

CONCLUSIONS:

A founder effect for the R3500Q mutation was found in a rural population with a high prevalence of FDB. In our population, FDB patients showed a mild clinical expression and lipoprotein phenotype compared with FH patients.

• Authors: Ismael Ejarque, José T Real, Felipe J Chaves, Sebastián Blesa, Verónica González, Enrique Milian, Juan F Ascaso, María A Priego, Rafael Carmena
• Journal: Medicina clinica (Med Clin (Barc)) Vol. 123 Issue 12 Pg. 456-9 (Oct 09 2004) ISSN: 0025-7753 [Print] Spain
• Vernacular Title: Estudio del defecto familiar de unión de la apolipoproteína B100 en una población mediterránea.
• PMID: 15498441 (Publication Type: English Abstract, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Apolipoprotein B-100
• Apolipoproteins B
• Lipoproteins

Topics

• Adult
• Aged
• Apolipoprotein B-100
• Apolipoproteins B (genetics)
• Female
• Founder Effect
• Humans
• Hyperlipoproteinemia Type II (blood, genetics)
• Lipoproteins (blood)
• Male
• Mediterranean Region
• Middle Aged
• Mutation
• Phenotype