EXON 4 LDLR GENE MUTATIONS IN PATIENTS WITH DYSLIPIDEMIA AT CAN THO UNIVERSITY OF MEDICINE AND PHARMACY HOSPITAL
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Abstract
Background: Dyslipidemia characterized by elevated low-density lipoprotein cholesterol (LDL-C) is a major cause of atherosclerotic cardiovascular disease. Mutations in exon 4 of the low-density lipoprotein receptor (LDLR) gene are important contributors to dyslipidemia and serve as key markers for early diagnosis, effective treatment, and complication prevention. Objective: To examine exon 4 LDLR gene mutations in patients with dyslipidemia at the Can Tho University of Medicine and Pharmacy Hospital. Materials and methods: Cross-sectional descriptive design was conducted on 60 patients with LDL-C ≥ 3.4 mmol/L (≥ 130 mg/dL) as per NCEP-ATP III. Determining mutations in exon 4 of LDLR gene by Sanger sequencing method, which were subsequently analyzed for their effect on the functional capacity of the LDL receptor. Results: Sequence analysis of exon 4 LDLR gene resulted in the detection of 16 distinct mutations. Apart from seven identified single nucleotide polymorphisms, two novel mutations were found. That is, c.604T>G (p.Phe202Val), a missense mutation, predicted to be deleterious to protein function according to PolyPhen-2 (0.997) and SIFT (0.011) analysis. However, c.654T>C (p.Gly218=) is a synonymous mutation that is not expected to cause any structural or functional change in the LDL receptor. Conclusion: This preliminary study identified sixteen mutations in exon 4 of the LDLR gene in the dyslipidemia patients of which two (c.604T>G and c.654T>C) were novel.
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Keywords
LDLR, dyslipidemia, mutation, c.604T>G, c.654T>C
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