Analysis of Familial Hypercholesterolemia in Malaysian Patients using Denaturing HPLC

Scientists from the Universiti Sains Malaysia (Penang, Malaysia) have studied familial hypercholesterolemia (FH), a genetic disorder caused by defects in the low-density lipoprotein receptor gene, using denaturing high-performance liquid chromatography.

Although FH is a genetic disorder, its phenotypic expression shows great variability in terms of lipid profile, frequency of xanthomas, and onset and severity of cardiovascular disease. In addition, underlying mutations remain largely unknown. The team, led by Alyaa Al-Khateeb of the Human Genome Centre at the Universiti Sains Malaysia, cites these reasons, and the limited analyses of the disorder that have been performed in Malaysia, as reasons to study the molecular spectrum and gene mutations of FH in Malaysian patients.

Low-density lipoprotein receptor (LDLR) gene variants were identified through the use of denaturing high-performance liquid chromatography. In 76% of the analyzed patients with FH, 29 LDLR sequence variants were observed, with eight discovered for the first time in this report.

“These findings support the usefulness of genetic testing, beyond its ability to provide an unequivocal diagnosis of the condition,” writes the team in the March 2011 issue of BMC Medical Genetics.