Liquid chromatography has helped scientists analyse how the low-density lipoprotein receptor (LDLR) gene affects patients with familial hypercholesterolemia.
Writing in BioMed Central (BMC) Medical Genetics, the scientists from Universiti Sains Malaysi studied unrelated patients in northern regions of Malaysia.
Of the 157 people tested, liquid chromatography helped the researchers to discover defects in the LDLR gene.
Among 76 per cent of the subjects, 29 gene variations were found. Of these, eight were new discoveries.
The scientists also found that people with pathogenic mutations tend to have increased cholesterol, be younger, have "higher incidences of cardiovascular disease", as well as "a family history of hyperlipidemia".
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