Understanding Hypertriglyceridemia: Integrating Genetic Insights

Genes, Journal Year: 2024, Volume and Issue: 15(2), P. 190 - 190

Published: Jan. 30, 2024

Hypertriglyceridemia is an exceptionally complex metabolic disorder characterized by elevated plasma triglycerides associated with increased risk of acute pancreatitis and cardiovascular diseases such as coronary artery disease. Its phenotype expression widely heterogeneous heavily influenced conditions obesity, alcohol consumption, or syndromes. Looking into the genetic underpinnings hypertriglyceridemia, this review focuses on variants in LPL, APOA5, APOC2, GPIHBP1 LMF1 triglyceride-regulating genes reportedly abnormal transcription translation proteins participating triglyceride-rich lipoprotein metabolism. resulting from abnormalities can be categorized monogenic polygenic. Monogenic also known familial chylomicronemia syndrome, caused homozygous compound heterozygous pathogenic five canonical genes. Polygenic multifactorial syndrome extreme cases variable penetrance affecting genes, a set common non-pathogenic (polymorphisms, using former nomenclature) well-established association triglyceride levels. We further address recent progress triglyceride-lowering treatments. Understanding basis hypertriglyceridemia opens new translational opportunities scope screening development novel therapies.

Language: Английский

A novel protein encoded by porcine circANKRD17 activates the PPAR pathway to regulate intramuscular fat metabolism

Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology, Journal Year: 2025, Volume and Issue: 16(1)

Published: Feb. 5, 2025

Abstract Background Intramuscular fat is an important factor in evaluating pork quality and varies widely among different pig breeds. However, the regulatory mechanism of circular RNAs (circRNAs) lipid metabolism remains largely unexplored. Results We combined circRNA-seq Ribo-seq data to screen a total 18 circRNA candidates with coding potential, circANKRD17 was found be significantly elevated longissimus dorsi muscle Lantang piglets, length 1,844 nucleotides. Using single-cell sequencing, we identified 477 differentially expressed genes IMF cells between Landrace enrichment PPAR signaling pathway. These included FABP4 , FABP5 CPT1A UBC consistent high levels acylcarnitines observed muscles breed, as determined by lipidomic analysis. Further vitro vivo experiments indicated that can regulate through various mechanisms involving pathway, including promoting adipocyte differentiation, fatty acid transport metabolism, triglyceride synthesis, droplet formation maturation. In addition, discovered has open reading frame translated into novel 571-amino-acid protein promotes metabolism. Conclusions Our research provides new insights role protein-coding circANKRD17, especially concerning metabolic characteristics breeds higher intramuscular content.

Language: Английский

Bases genéticas de las hipertrigliceridemias

Clínica e Investigación en Arteriosclerosis, Journal Year: 2024, Volume and Issue: 36, P. S3 - S12

Published: Dec. 1, 2024

The development of massive sequencing techniques and guidelines for assessing the pathogenicity variants are allowing us identification new cases familial chylomicronemia syndrome (FCS) mostly in LPL gene, less frequently GPIHBP1 APOA5, with even fewer LMF1 APOC2. From included studies, it can be deduced that, multifactorial (MCS), both loss-of-function common canonical genes FCH contribute to manifestation this other form chylomicronemia. Other rare triglyceride metabolism have been identified MCS patients, although their real impact on severe hypertriglyceridemia is unknown. There may up 60 involved metabolism, so there still a long way go know whether not discussed monograph (MLXIPL, PLTP, TRIB1, PPAR alpha or USF1, example) genetic determinants that need taken into account.

Language: Английский