Publications by authors named "M Varret"
Article Synopsis
- PCSK9 is crucial for regulating LDL-cholesterol and certain variants, like p.Ser127Arg, lead to higher cholesterol levels and are mainly found in France, with few in South Africa and Norway due to a common ancestor effect.
- The study analyzed 14 p.Ser127Arg carriers from eight families and compared them with other variants to understand their genetic background and health impact.
- Results indicated that the common ancestor lived about 775 years ago, and carriers of p.Ser127Arg had significantly higher LDL-C levels, suggesting it may have a stronger effect on cholesterol levels compared to other mutations.
Background: The role of proprotein convertase subtilisin/kexin type 9 (PCSK9) in dyslipidemia may go beyond its immediate effects on low-density lipoprotein receptor (LDL-R) activity.
Objective: This study aimed to assess PCSK9-derived alterations of high-density lipoprotein (HDL) physiology, which bear a potential to contribute to cardiovascular risk profile.
Methods: HDL was isolated from 33 patients with familial autosomal dominant hypercholesterolemia (FH), including those carrying PCSK9 gain-of-function (GOF) genetic variants (FH-PCSK9, n = 11), together with two groups of dyslipidemic patients employed as controls and carrying genetic variants in the LDL-R not treated (ntFH-LDLR, n = 11) and treated (tFH-LDLR, n = 11) with statins, and 11 normolipidemic controls.
Additive Effect of Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Arterioscler Thromb Vasc Biol
July 2023
Background: Autosomal dominant hypercholesterolemia (ADH) is due to deleterious variants in , , or genes. Double heterozygote for these genes induces a more severe phenotype. More recently, a new causative variant of heterozygous ADH was identified in .
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- Familial chylomicronemia syndrome is a rare genetic disorder marked by high plasma triglyceride levels and symptoms like abdominal pain, pancreatitis, and skin lesions due to accumulated chylomicrons.
- A study on a consanguineous Syrian family in Lebanon identified a specific gene mutation (p.(Val227Phe)) linked to the syndrome in two affected children, and interestingly showed significant differences in PCSK9 levels among family members based on their genetic status.
- This case emphasizes the risks of consanguineous marriages leading to genetic disorders and the importance of early diagnosis and dietary management to avoid serious health issues associated with the syndrome.