Understanding Hypertriglyceridemia: Integrating Genetic Insights

• Type: Another Publication in an International Scientific Journal
• Date: 2024

Authors

Alves, M (Author) Other; Laranjeira, F (Author) Other; Georgina Correia da Silva (Author) FFUP

Journal

Title: Genes

Vol. 15

Final page: 190

ISSN: 2073-4425

Publisher: MDPI

Indexing

ISI Web of Knowledge - 0 Citations

Scopus

Other information

Authenticus ID: P-010-2FE

DOI: 10.3390/genes15020190

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

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 26