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Lipoprotein Lipase: Structure, Function, and Genetic Variation.
Genes (Basel)
January 2025
Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON N6A 5B7, Canada.
Biallelic rare pathogenic loss-of-function (LOF) variants in lipoprotein lipase () cause familial chylomicronemia syndrome (FCS). Heterozygosity for these same variants is associated with a highly variable plasma triglyceride (TG) phenotype ranging from normal to severe hypertriglyceridemia (HTG), with longitudinal variation in phenotype severity seen often in a given carrier. Here, we provide an updated overview of genetic variation in in the context of HTG, with a focus on disease-causing and/or disease-associated variants.
View Article and Find Full Text PDFApplication of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population.
Gac Med Mex
January 2025
Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Background: Familial hyperlipidemia (familial hypercholesterolemia, FH) is an autosomal genetic disorder. It includes type heterozygous familial hyperlipidemia (heterozygous familial hypercholesterolemia). HeFH is mainly caused by mutations in the LDLR, APOB, and PCSK9 genes and is characterized by elevated plasma low-density lipoprotein cholesterol levels.
View Article and Find Full Text PDFBurning Mouth Syndrome From Statin Use: A Case Study.
Cureus
December 2024
Neurology, University of Pittsburgh Medical Center Hamot, Erie, USA.
Statins are one of the most commonly prescribed medications in America. They are known for their ability to decrease cholesterol. Although generally well-tolerated, they are known to cause a variety of moderate side effects.
View Article and Find Full Text PDFDyslipidemia in Infants: Challenges in Diagnosis and Management.
Tunis Med
December 2024
University El Manar, Faculty of Medecine of Tunis. Pediatrics and Neonatology departement, Yasminette Ben Arous, Tunisia.
Dyslipidemia in infants is a rare condition characterized by abnormal levels of lipids in the blood, such as cholesterol and triglycerides. Early diagnosis poses a challenge due to nonspecific symptoms and lipid criteria differing from adults. Through two clinical cases of familial dyslipidemia (Type 1 Familial Hypercholesterolemia and Type 2b Combined Familial Hyperlipidemia), we highlight the diagnostic and therapeutic challenges encountered in infants, emphasizing the importance of a multidisciplinary approach in care and early screening.
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