Genetic analysis of Indian subjects with clinical features of possible type IIa hypercholesterolemia.

We performed genetic analysis in 55 patients with clinical features of possible type IIa hypercholesterolemia and 76 normolipemic healthy subjects for mutations and polymorphisms in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B-100 (APOB), apolipoprotein E (APOE), and hepatic lipase (LIPC) genes to elucidate the important genetic factors that can influence cholesterol levels in our population. None of the subjects showed mutations in part of exon 26 of the APOB gene, whereas two class 5 mutations were identified in exon 9 of the LDLR gene. First, an E387K mutation was observed in a Gujarati family in which both the parents were heterozygous for the mutation.

Genetic determinants of hyperhomocysteinemia in atherosclerosis.

Hyperhomocysteinemia (Hhcy) is an independent risk factor for the development of atherosclerosis. The mechanisms by which HHcy promotes cardiovascular disease may be due to activation of pro-inflammatory factors, endoplasmic reticulum (ER) stress and oxidative stress. We aimed to study (i) gene mutations that cause HHcy.

Standardization of homocysteine on HPLC using DTT as reductant.

Determination of plasma total homocysteine by high-pressure liquid chromatography (HPLC) usually requires reduction of protein bound or free homocysteine-disulphides into thiols by a reducing agent and the liberated thiols are then derivatized by a fluorescent marker. In this study we have standardized the HPLC method for homocysteine measurement using dithiothreitol (DTT) as reductant.The results of plasma total homocysteine values obtained by HPLC were compared with IMx method.

Gene polymorphism and coronary risk factors in Indian population.

Asian Indians who have settled overseas and those in urban India have increased risk of coronary events. Reasons for this increased risk are thought to be genetic but are yet unclear. Advances in molecular cardiology have revealed a number of single nucleotide polymorphisms associated with atherosclerosis.

Apolipoprotein E4 polymorphism as risk factor for coronary heart disease among Indian subjects.

Apolipoprotein E genotypes and lipid and lipoprotein levels were determined in hypercholesterolemic and angiographically vertified CHD subjects and compared against 90 normolipidemic controls. The ε4 allele was significantly prevalent in the hypercholesterolemic and CHD subjects. Significant increase in total cholesterol levels in apo ε4 containing subjects were observed in the hypercholesterolemic and CHD group.