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Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Genet Med
January 2025
Lipids and Atherosclerosis Laboratory, Department of Medicine and Dermatology, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga y Plataforma en Nanomedicina (IBIMA -Plataforma Bionand), University of Málaga, Málaga, Spain; Lipid Unit. Internal Medicine Service. University Hospital Virgen de la Victoria, Málaga, Spain.
Purpose: Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.
Methods: 245 patients with severe hypertriglyceridemia underwent next-generation sequencing.
Omics Approaches to Study Perilipins and Their Significant Biological Role in Cardiometabolic Disorders.
Int J Mol Sci
January 2025
Unit of Functional Proteomics, Metabolomics and Network Analysis, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.
Lipid droplets (LDs), highly dynamic cellular organelles specialized in lipid storage and maintenance of lipid homeostasis, contain several proteins on their surface, among which the perilipin (Plin) family stands out as the most abundant group of LD-binding proteins. They play a pivotal role in influencing the behavior and functionality of LDs, regulating lipase activity, and preserving a balance between lipid synthesis and degradation, which is crucial in the development of obesity and abnormal accumulation of fat in non-adipose tissues, causing negative adverse biological effects, such as insulin resistance, mitochondrial dysfunction, and inflammation. The expression levels of Plins are often associated with various diseases, such as hepatic steatosis and atherosclerotic plaque formation.
View Article and Find Full Text PDFInvestigation of antioxidant, antimicrobial, and enzymatic properties of thermophilic cyanobacteria extracts.
BioTechnologia (Pozn)
December 2024
Department of Biology, Eskişehir Technical University (ESTU), Tepebaşı/Eskişehir, Türkiye.
Background: The present study investigated the antioxidant, antimicrobial, and partial enzymatic properties of 52 thermophilic cyanobacteria isolates .
Materials And Methods: The DPPH scavenging method was applied to test the antioxidant potential of isolates' methanol extracts. Agar block diffusion and agar well diffusion methods were used to evaluate the antimicrobial activity and measured in milimeters.
The role of lysosomal acid lipase deficiency in dyslipidemia and liver disorders.
Rev Esp Enferm Dig
January 2025
Digestive Diseases, Hospital Universitario Virgen de las Nieves, España.
Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable.
View Article and Find Full Text PDFCharacterization of mutant and its application in heterologous lipase expression.
Synth Syst Biotechnol
June 2025
Science Center for Future Foods, Jiangnan University, Wuxi, 214122, China.
The expression system has been developed into a chassis for the production of heterologous lipases, attributed to its strong capabilities in protein production and secretion, robust post-translational modifications, and favourable safety profile. However, the system's relatively low expression levels remain a challenge, hindering its ability to meet the increasing demands of large-scale production. Strain C19, screened by high-throughput methods combining droplet microfluidics and flow cytometry, was demonstrated to be a potential chassis cell based on fermentation kinetic analysis and transcriptome sequencing.
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