[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].

Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved in bile acid synthesis. The diagnosis is often missed and delayed because of the variable clinical presentation of the disease. Blood testing for cerebrotendinous xanthomatosis is routinely performed using gas chromatography-mass spectrometry measurement of elevated cholestanol level, and the diagnosis is confirmed by molecular genetic analysis.

Effect of apolipoprotein E genotypes on the efficacy of ezetimibe monotherapy in patients with statin induced adverse effects.

Objective: The aim of this study was to clarify the effect of Apolipoprotein E (ApoE) polymorphism on the efficacy of cholesterol absorption inhibitor ezetimibe monotherapy on lipid parameters.

Methods: 63 hyperlipidemic patients with statin induced adverse effects were involved in the study. We examined the effect of 10 mg/day ezetimibe treatment on lipid levels after 3, 6 and 12 months of treatment in patients on a diet of only different ApoE genotypes.

Computer-aided subsite mapping of α-amylases.

Subsite mapping is a crucial procedure in the characterization of α-amylases (EC 3.2.1.

[Genetic background of the efficacy of cholesterol absorption. The role of Niemann-Pick C1-like 1 receptor and its genetic variations in lipid metabolism].

Niemann-Pick C1-like 1 is a sterol sensing domain-containing transmembrane protein that is highly expressed on the apical surface of absorptive enterocytes. Previous studies proved that this protein facilitates the movement of free cholesterol from the gut lumen into enterocytes. Biochemical studies showed that Niemann-Pick C1-like 1 is the target of ezetimibe, a potent cholesterol absorption inhibitor.

Benefits and difficulties in measuring HDL subfractions and human paraoxonase-1 activity during statin treatment.

Dyslipidaemia including decreased high density lipoprotein cholesterol concentration is one of several factors that have been implicated in increased cardiovascular risk. Since their introduction in the 1980s, 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibitors (statins) have emerged as the one of the best-selling class of medications to date, with numerous trials demonstrating powerful efficacy in preventing cardiovascular diseases. Although statins have been shown to modestly raise or not alter HDL-cholesterol, their effect on HDL subfractions and on HDL-associated enzymes including human paraoxonase-1 (PON1) has not yet been fully explored.