EAS Familial Hypercholesterolaemia Studies Collaboration

Condition:   Familial Hypercholesterolemia Intervention:   Sponsor:   Imperial College London Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials

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Purpose of review With the exception of familial hypercholesterolaemia, the value of genetic testing for managing dyslipidaemias is not established. We review the genetics of major dyslipidaemias in context of clinical practice. Recent findings Genetic testing for familial hypercholesterolaemia is valuable to enhance diagnostic precision, cascade testing, risk prediction and the use of new medications. Hypertriglyceridaemia may be caused by rare recessive monogenic, or by polygenic, gene variants; genetic testing may be useful in the former, for which antisense therapy targeting apoC-III has been approved. Familial hi...
Source: Current Opinion in Cardiology - Category: Cardiology Tags: MOLECULAR GENETICS: Edited by Ali J. Marian Source Type: research
Abstract Sphingolipids, universal components of biological membranes of all eukaryotic organisms, from yeasts to mammals, in addition of playing a structural role, also play an important part of signal transduction pathways. They participate or, also, ignite several fundamental subcellular signaling processes but, more in general, they directly contribute to key biological activities such as cell motility, growth, senescence, differentiation as well as cell fate, i.e., survival or death. The sphingolipid metabolic pathway displays an intricate network of reactions that result in the formation of multiple sphingoli...
Source: International Review of Cell and Molecular Biology - Category: Cytology Authors: Tags: Int Rev Cell Mol Biol Source Type: research
We report that parental metabolic syndrome epigenetically reprograms members of the TGF-β family, including neuronal regeneration–related protein (NREP) and growth differentiation factor 15 (GDF15). NREP and GDF15 modulate the expression of several genes involved in the regulation of hepatic lipid metabolism. In particular, NREP downregulation increases the protein abundance of 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) and ATP-citrate lyase (ACLY) in a TGF-β receptor/PI3K/protein kinase B–dependent manner, to regulate hepatic acetyl-CoA and cholesterol synthesis. Reduced hepatic expression of N...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
Lipoprotein (a) [Lp(a)] is a low-density, cholesterol-containing lipoprotein that differs from other low-density lipoproteins due to the presence of apolipoprotein(a) bound to its surface apolipoprotein B100. Multiple epidemiologic studies, including Mendelian Randomization studies, have demonstrated that increasing Lp(a) levels are associated with increased risk of heart disease, including atherosclerotic cardiovascular disease and calcific aortic stenosis. The risk associated with elevations in Lp(a) appears to be independent of other lipid markers.
Source: The American Journal of Cardiology - Category: Cardiology Authors: Source Type: research
Publication date: Available online 5 April 2020Source: Canadian Journal of CardiologyAuthor(s): Michael Khoury, Brian W. McCrindle
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
Abstract Background: A sizeable proportion of patients have discordant low-density lipoprotein cholesterol (LDL-C) and non-high-density lipoprotein cholesterol (non-HDL-C). Objectives: We assessed the relationship between discordance of LDL-C and non-HDL-C and coronary artery disease (CAD) severity. Methods: We retrospectively evaluated the data of 574 consecutive patients who underwent coronary angiography. Fasting serum lipid profiles were recorded, SYNTAX and Gensini scores were calculated to establish CAD complexity and severity. We determined the medians for LDL-C and non-HDL-C to examine the discordance between LDL-C...
Source: Arquivos Brasileiros de Cardiologia - Category: Cardiology Source Type: research
Abstract Background: A sizeable proportion of patients have discordant low-density lipoprotein cholesterol (LDL-C) and non-high-density lipoprotein cholesterol (non-HDL-C). Objectives: We assessed the relationship between discordance of LDL-C and non-HDL-C and coronary artery disease (CAD) severity. Methods: We retrospectively evaluated the data of 574 consecutive patients who underwent coronary angiography. Fasting serum lipid profiles were recorded, SYNTAX and Gensini scores were calculated to establish CAD complexity and severity. We determined the medians for LDL-C and non-HDL-C to examine the discordance between LDL-C...
Source: Arquivos Brasileiros de Cardiologia - Category: Cardiology Source Type: research
A friend of mine takes a statin medication each day to lower his cholesterol. More than once I’ve heard him say “I ate too much! I’m going to have to take an extra pill.” Never mind that it doesn’t work that way — a single additional statin pill won’t make much difference to his cholesterol or his health. And never mind that you shouldn’t self-adjust the dose of your medications (talk to your doctor before making any changes in medication dosing). But my friend’s overindulging does bring up the question of whether starting medications for conditions like high blood pres...
Source: Harvard Health Blog - Category: Consumer Health News Authors: Tags: Exercise and Fitness Health Healthy Eating Heart Health Hypertension and Stroke Source Type: blogs
Paradoxically, low serum cholesterol has been associated with increased mortality risk among older adults. How does cholesterol metabolism in older persons differ from that in younger persons?Journal of the American Geriatrics Society
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Internal Medicine Journal Article Source Type: news
The Journal of Physical Chemistry BDOI: 10.1021/acs.jpcb.0c00485
Source: Journal of Physical Chemistry B - Category: Chemistry Authors: Source Type: research
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