title: Expression and functional activity of receptor-Ck in mononuclear cells of a homozygous hypercholesterolemic family.
abstract: The study was addressed to explore the expression and functional activity of a novel cholesterol-specific cell surface receptor-Ck in a typical homozygous familial hypercholesterolemic family. Functional activity of receptor-Ck was characterized by its ability to downregulate Bcl-2 gene expression through a 47 kDa factor having an affinity for the sterol-regulatory element in the promoter region of this gene. The result of such a study revealed normal expression and functional activity of receptor-Ck accompanied by a lack of Apolipoprotein B-specific low-density lipoprotein receptor gene expression in the mononuclear cells derived from these patients. On the basis of these results, it is tempting to speculate that receptor-Ck may be involved in the maintenance of cellular cholesterol homeostasis observed in homozygous familial hypercholesterolemic patients.
authors: Department of Experimental Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh.
authors: D
authors: D
authors: Kaul
authors: J S
authors: JS
authors: Verma
mesh_terms: D000293:Adolescent; D001055:Apolipoproteins B / Q000235:genetics; D015536:Down-Regulation / Q000235:genetics; D005192:Family Health; D005786:Gene Expression Regulation / Q000235:genetics; D019254:Genes, bcl-2 / Q000235:genetics; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D011973:Receptors, LDL / Q000235:genetics; D018110:Receptors, Lipoprotein / Q000235:genetics / Q000502:physiology*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D001055:Apolipoproteins B; D011973:Receptors, LDL; D018110:Receptors, Lipoprotein; D014157:Transcription Factors; C113493:receptor-Ck