hypercholesterolemia/proline

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Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK.

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Mutations in the gene for the low density lipoprotein (LDL) receptor cause Familial Hypercholesterolaemia (FH). One such mutation, a cytosine to thymine change in the codon for amino acid 664, causes proline (CCG) to be replaced by leucine (CTG) at this position, and creates a Pst I site in exon 14

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

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Familial hypercholesterolemia and familial ligand-defective apolipoprotein B-100 (FDB) are dominantly inherited disorders leading to impaired low-density lipoprotein receptor (LDLR) and apolipoprotein B-100 (APOB) interaction, plasma LDL elevation, and hypercholesterolemia. We previously identified

Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia.

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We describe a rapid screening procedure to identify known DNA sequence changes in individuals diagnosed as having heterozygous familial hypercholesterolaemia (FH). The screening is made possible by combining a rapid DNA extraction protocol and small scale polymerase chain reaction DNA amplification,

Importance of uncharged polar residues and proline in the proximal two-thirds (Pro107-Ser128) of the highly conserved region of mouse ileal Na+-dependent bile acid transporter, Slc10a2, in transport activity and cellular expression.

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BACKGROUND SLC10A2-mediated reabsorption of bile acids at the distal end of the ileum is the first step in enterohepatic circulation. Because bile acids act not only as detergents but also as signaling molecules in lipid metabolism and energy production, SLC10A2 is important as the key transporter

Clinical features and genetic analysis of autosomal recessive hypercholesterolemia.

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Previously we have reported on siblings with severe hypercholesterolemia, xanthomas, and premature atherosclerosis without any impairment of low-density lipoprotein receptor in their fibroblasts as a first characterization of autosomal recessive hypercholesterolemia (ARH). Recently, mutations were

A novel point mutation (Pro84-->Ser) of the low density lipoprotein receptor gene in a family with moderate hypercholesterolemia.

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To obtain insight into the possibility that genetic variation of the structure of the low density lipoprotein (LDL) receptor protein could result in subtle changes of serum cholesterol levels, we used single-strand conformation polymorphism (SSCP) to screen all 18 exons of the LDL receptor gene in a

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.

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The coding region of the low density lipoprotein (LDL)-receptor gene from a patient (MM) with homozygous familial hypercholesterolemia (FH) has been sequenced from six overlapping 500-base-pair amplified fragments of the cDNA from cultured skin fibroblasts. Two separate single nucleotide base

Serum metabolomics reveals the progression of coronary artery stenosis in patients with hypercholesterolemia: a pilot study.

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: The current study explores potential characteristic metabolic signatures associated with the high cholesterol (CHO), and the progression of coronary artery stenosis (CAS) in high-CHO patients. A metabolomics strategy based on ultra high-performance liquid chromatography/MS-MS and multivariate

Effects of K+-deficient diets with and without NaCl supplementation on Na+, K+, and H2O transporters' abundance along the nephron.

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Dietary potassium (K(+)) restriction and hypokalemia have been reported to change the abundance of most renal Na(+) and K(+) transporters and aquaporin-2 isoform, but results have not been consistent. The aim of this study was to reexamine Na(+), K(+) and H(2)O transporters' pool size regulation in

[Development of the connective tissue in the wall of the rabbit aorta in experimental atherosclerosis].

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Structural and functional characteristics of cells involved in collagen synthesis have been studied in experimental hypercholesterolemia in rabbits. Autoradiographic studies, using 3H-proline and 14C-hydroxyproline have demonstrated that collagen synthesis takes place only in the intima in the area

Influence of clofibrate on the plasma lipoprotein pattern and on the lipid content and protein and collagen synthesis in atherosclerotic coronary arteries and abdominal aorta from hypercholesterolemic mini-pigs.

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The influence of clofibrate on the plasma lipoprotein pattern in hyperlipidemic mini-pigs was studied and an attempt was made to characterize the type of atherosclerosis produced in this animal model. Thirty-two female mini-pigs of the Göttingen strain were used. Experimental hypercholesterolemia

Failure of hypercholesterolemic serum to stimulate collagen synthesis in aortic smooth muscle cells from two species of nonhuman primates having different rates of collagen synthesis.

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African green monkeys develop atherosclerotic lesions that are more fibrous than those found in rhesus monkeys. The purpose of this study was to determine if this difference in collagen content could be related to a specific effect of a serum component on collagen synthesis by cells of the arterial

A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

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Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a ligand of low-density lipoprotein receptor (LDLR) that promotes LDLR degradation in late endosomes/lysosomes. In human plasma, 30%-40% of PCSK9 is bound to LDL particles; however, the physiological significance of this interaction remains

Neuropeptide Y: a novel link between the neuroendocrine system and cholesterol metabolism.

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High serum total and low-density lipoprotein (LDL) cholesterol levels constitute the main risk factor for atherosclerotic vascular diseases. Both genetic and environmental factors are involved in the regulation of serum cholesterol levels. Neuropeptide Y (NPY), which is widely expressed in both the

[Is PLA1/A2 gene polymorphism of platelet membrane glycoprotein IIIa a risk factor for myocardial infarct?].

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BACKGROUND The PlA1/A2 polymorphism of the human platelet membrane glycoprotein IIIa gene cause T-->C transition in the exon ii (position 1565) resulting in the leucine-->proline substitution in amino-acid sequence. This polymorphism was shown to be associated with increased risk of myocardial

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