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Familial defective apolipoprotein B-100 (R3500Q) in Northern Ireland.

E McClean¹, C A Graham, A J Ward

¹Clinical Chemistry Department, Belfast City Hospital, Northern Ireland, UK.

British Journal of Biomedical Science

|May 5, 2000

Summary

Familial defective apolipoprotein B-100 (FDB) R3500Q mutation is linked to high cholesterol and heart disease. Statins effectively reduced cholesterol in most FDB R3500Q heterozygotes.

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Area of Science:

Genetics
Cardiovascular Medicine
Biochemistry

Background:

Familial defective apolipoprotein B-100 (FDB) R3500Q is an autosomal co-dominant disorder.
This genetic defect is associated with hypercholesterolemia and coronary artery disease.

Purpose of the Study:

To screen hypercholesterolemic patients for the FDB R3500Q mutation.
To assess the clinical presentation and treatment response in individuals with the mutation.

Main Methods:

Screening of 158 hypercholesterolemic patients from Northern Ireland.
Polymerase chain reaction-mediated, site-directed mutagenesis was used to detect the mutation.

Main Results:

Eight (5.1%) unrelated individuals were heterozygous for the FDB R3500Q mutation.
Two (3.7%) of those with clinically diagnosed familial hypercholesterolemia (FH) carried the mutation.
Statins significantly reduced total cholesterol (22-44%) and LDL cholesterol (34-46%) in FDB heterozygotes.

Conclusions:

The FDB R3500Q mutation is present in a notable percentage of hypercholesterolemic individuals.
Statins are an effective treatment for lowering cholesterol in FDB R3500Q heterozygotes.