Non-invasive vessel examinations in carriers of LDL-receptor defective gene versus non-carriers with newly detected asymptomatic severe hypercholesterolemia.
نویسندگان
چکیده
UNLABELLED The results of the research of early vascular alterations in LDL-R carriers in comparison with those in non-carriers with severe hypercholesterolemia are controversial. AIM To investigate the difference between severe hypercholesterolemia patients that carry LDL-R defective gene and those that do not have it, in their functional (flow-mediated vasodilation) and structural (intima-media thickness of carotid artery and ankle-brachial index) characteristics of arterial wall. PATIENTS AND METHODS The study included 120 hypercholesterolemic patients. Biochemistry parameters were studied by routine methods. The flow-mediated vasodilation (%FMD), ankle-brachial index (ABI) and intima-media thickness (IMT) of common carotid artery were determined using Hewlett Packard Sonos 5 500; MedicaSoft. IMT.lab was the software programme used in the study. RESULTS There was no significant difference between the groups with respect to total cholesterol, LDL, HDL, Apo-B, Apo-A1, cellular adhesion molecules (sICAM-1, sVCAM-1, sP- and sE-selectine). The Apo-B/Apo A1 index differed significantly (t = 11.23, p < 0.001) between the two groups; there was difference even after adjustment for age. There was no significant difference in the endothelial dependent and independent vasodilatation between the examined groups (p > 0.05). We found a significantly greater carotid IMT and lower ABI in the carriers than the respective parameters in the non-carriers. This significant difference was confirmed after adjustment for age. CONCLUSION Our data show that LDL-R carriers have a higher carotid IMT and lower ABI than non-carriers, whereas no difference between the groups was found with respect to the level of lipid parameters and %FMD.
منابع مشابه
Ankle-brachial Index and Ldl-receptor Gene in Asymptomatic Severe Hyper- Cholesterolemia
The issue with the different levels of ankle-brachial index, as screening for LDL-receptor defective gene in newly detected asymptomatic severe hypercholesterolemia is less studied, but quite interesting. There have not been any studies on ankle-brachial index in patients with severe hypercholesterolemia in Bulgaria. Aim: To examine the difference between patients with severe hypercholesterolem...
متن کاملFamilial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
متن کاملA Novel Mutation in Exon 4 of the Low Density Lipoprotein (LDL) Receptor Gene in an Iranian Familial Hypercholesterolemia Patient
Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...
متن کاملNon-biological gene carriers designed for overcoming the major extra- and intracellular hurdles in gene delivery, an updated review
Gene therapy as a modern therapeutic approach has not yet advanced to a globally-approved therapeutic approach. Lack of adequate reliable gene delivery system seems to be one of the major reasons from the pharmaceutical biotechnology point of view. Main obstacles delaying successful application of human gene therapy are presented in this review. The unique advantages of non-biological gene carr...
متن کاملCharacterization of LDL particle size among carriers of a defective or a null mutation in the lipoprotein lipase gene: the Québec LIPD Study.
OBJECTIVE The objective of the present study was to compare the impact of the null P207L and defective D9N mutations in the LPL gene on LDL particle size among heterozygous carriers. METHODS AND RESULTS LDL particle size was measured on whole plasma by 2% to 16% non-denaturing polyacrylamide gradient gel electrophoresis in a cohort of 206 heterozygous carriers of either the P207L or the D9N m...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Folia medica
دوره 52 4 شماره
صفحات -
تاریخ انتشار 2010