Publications by authors named "Clare K Neuwirth"
Article Synopsis
- The study evaluated the use of intima-medial layer (IML) reflectivity to distinguish between healthy and unhealthy increases in intima-medial thickness (IMT) in patients with familial hypercholesterolemia and matched controls.
- IML reflectivity was quantified using the intima-medial reflectivity index (IMRI), which effectively enhanced the assessment of atherosclerosis risk compared to using IMT alone.
- Results indicated that when IMRI was included in the evaluation, it accurately identified low-risk subjects, allowing for earlier detection of pathological IMT increases linked to atherosclerosis.
Typically, autosomal dominant familial hypercholesterolaemia (FH) is caused by mutations in the low density lipoprotein (LDL) receptor or apolipoprotein B genes that result in defective clearance of plasma LDL by the liver, but a third gene (PCSK9), encoding a putative proprotein convertase, has recently been implicated. Two independent microarray studies support a role for PCSK9 in sterol metabolism and adenoviral-mediated over-expression of PCSK9 in mouse liver depletes hepatic LDL-receptor protein, but the mechanism by which dominant mutations cause human FH is unclear. We have identified the D374Y mutant of PCSK9 in three FH families of English origin; all 12 affected individuals have unusually severe hypercholesterolaemia and require more stringent treatment than typical FH patients, who are heterozygous for defects in the LDL receptor.
View Article and Find Full Text PDFUnlabelled: Background- Combined hyperlipidemia is a common disorder characterized by a highly atherogenic lipoprotein profile and increased risk of coronary heart disease. The etiology of the lipid abnormalities (increased serum cholesterol and triglyceride or either lipid alone) is unknown.
Methods And Results: We assembled 2 large cohorts of families with familial combined hyperlipidemia (FCHL) and performed disease and quantitative trait linkage analyses to evaluate the inheritance of the lipid abnormalities.