Publications by authors named "Medha V Kulkarni"
We previously demonstrated the role of a phospholipid transfer protein (PLTP) gene variation (rs2294213) in determining levels of high-density lipoprotein cholesterol (HDL-C) in hypoalphalipoproteinemia (HypoA). We have now explored the role of PLTP in hyperalphalipoproteinemia (HyperA). The human PLTP gene was screened for sequence anomalies by DNA melting in 107 subjects with HyperA.
View Article and Find Full Text PDFBackground: Lipoprotein Lipase (LPL), a key enzyme in lipid metabolism, catalyzes the hydrolysis of triglycerides (TG) from TG-rich lipoproteins, and serves a bridging function that enhances the cellular uptake of lipoproteins. Abnormalities in LPL function are associated with pathophysiological conditions, including familial combined hyperlipidemia (FCH). Whereas two LPL susceptibility alleles were found to co-segregate in a few FCH kindred, a role for common, protective alleles remains unexplored.
View Article and Find Full Text PDFArticle Synopsis
- Three mutations in the apoB gene contribute to Familial Defective Apolipoprotein B 100 (FDB) through impaired LDL receptor binding, and researchers aimed to identify new mutations.
- A previously undiscovered mutation at codon 3516 was found, introducing a positively charged amino acid (lysine), contrasting with other FDB mutations that eliminate a positively charged residue (arginine).
- This mutation alters LDL conformation, affecting its interaction with LDL receptors, although some tests indicated normal receptor binding and no abnormal accumulation of LDL particles in plasma.