PNPLA3 as a driver of steatotic liver disease: navigating from pathobiology to the clinics via epidemiology DOI Open Access
Ralf Weiskirchen, Amedeo Lonardo

Journal of Translational Genetics and Genomics, Journal Year: 2024, Volume and Issue: 8(4), P. 355 - 77

Published: Dec. 7, 2024

Steatotic liver disease (SLD), particularly metabolic dysfunction-associated SLD, represents a significant public health concern worldwide. Among the various factors implicated in development and progression of this condition, patatin-like phospholipase domain-containing protein 3 (PNPLA3 ) gene has emerged as critical player. Variants PNPLA3 are associated with altered lipid metabolism, leading to increased hepatic fat accumulation subsequent inflammation fibrosis. Understanding role not only enhances our comprehension pathomechanisms driving SLD but also informs potential therapeutic strategies. The molecular mechanisms through which variants contribute dysregulation hepatocyte injury critically discussed present review article. We extensively analyze clinical cohorts population-based studies underpinning association between polymorphisms risk developing its liver-related protean extrahepatic outcomes, concert other modifiers, notably including age, sex, ethnicity adults children. discuss increasingly recognized played by transplantation, autoimmune hepatitis, acquired immunodeficiency syndrome. Finally, we examine implications diagnostics regarding stratification targeted therapies for patients affected context precision medicine approaches.

Language: Английский

Effects of Probiotics on Gut Microbiota: An Overview DOI Open Access
Preethi Chandrasekaran, Sabine Weiskirchen, Ralf Weiskirchen

et al.

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(11), P. 6022 - 6022

Published: May 30, 2024

The role of probiotics in regulating intestinal flora to enhance host immunity has recently received widespread attention. Altering the human gut microbiota may increase predisposition several disease phenotypes such as inflammation and metabolic disorders. converts dietary nutrients into metabolites that serve biologically active molecules modulating regulatory functions host. Probiotics, which are microorganisms, play a versatile restoring composition microbiota, helping improve prevent phenotypes. This comprehensive review provides firsthand information on their influence health, effects diet how alter function along with corresponding building healthy intestine. We also discuss implications some most important diseases. In summary, significant boosting overall immunity, increasing abundance beneficial bacteria, ameliorate symptoms multiple

Language: Английский

Citations

54

The signaling pathways in obesity‐related complications DOI Creative Commons
Preethi Chandrasekaran, Ralf Weiskirchen

Journal of Cell Communication and Signaling, Journal Year: 2024, Volume and Issue: 18(2)

Published: June 1, 2024

Abstract Obesity, a rapidly expanding epidemic worldwide, is known to exacerbate many medical conditions, making it significant factor in multiple diseases and their associated complications. This threatening linked various harmful conditions such as type 2 diabetes mellitus, hypertension, metabolic dysfunction‐associated steatotic liver disease, polycystic ovary syndrome, cardiovascular (CVDs), dyslipidemia, cancer. The rise urbanization sedentary lifestyles creates an environment that fosters obesity, leading both psychosocial To identify individuals at risk ensure timely treatment, crucial have better understanding of the pathophysiology obesity its comorbidities. comprehensive review highlights relationship between obesity‐associated complications, including diabetes, gastrointestinal obstructive sleep apnea. It also explores potential mechanisms underlying these associations. A thorough analysis interplay complications vital developing effective therapeutic strategies combat exponential increase global rates mitigate deadly consequences this polygenic condition.

Language: Английский

Citations

9

Perilipins: A family of five fat‐droplet storing proteins that play a significant role in fat homeostasis DOI Creative Commons
Preethi Chandrasekaran, Sabine Weiskirchen, Ralf Weiskirchen

et al.

Journal of Cellular Biochemistry, Journal Year: 2024, Volume and Issue: 125(6)

Published: May 15, 2024

Abstract Lipid droplets are organelles with unique spherical structures. They consist of a hydrophobic neutral lipid core that varies depending on the cell type and tissue. These surrounded by phospholipid monolayers, along heterogeneous proteins responsible for synthesis metabolism. Additionally, there specialized droplet‐associated surface proteins. Recent evidence suggests from perilipin family (PLIN) associated involved in their formation. have specific roles hepatic droplet metabolism, such as protecting lipase action maintaining balance between storage utilization cells. Metabolic dysfunction‐associated steatotic liver disease (MASLD) is characterized accumulation more than 5% hepatocytes. This can progress into metabolic steatohepatitis, fibrosis, cirrhosis, hepatocellular carcinoma. The progression MASLD other diseases sarcopenic obesity. Therefore, it crucial to understand role perilipins this accumulation, these key targets developing novel therapeutic strategies. comprehensive review aims summarize structure characteristics PLIN proteins, well pathogenic development steatosis fatty diseases.

Language: Английский

Citations

5

PNPLA3 as a driver of steatotic liver disease: navigating from pathobiology to the clinics via epidemiology DOI Open Access
Ralf Weiskirchen, Amedeo Lonardo

Journal of Translational Genetics and Genomics, Journal Year: 2024, Volume and Issue: 8(4), P. 355 - 77

Published: Dec. 7, 2024

Steatotic liver disease (SLD), particularly metabolic dysfunction-associated SLD, represents a significant public health concern worldwide. Among the various factors implicated in development and progression of this condition, patatin-like phospholipase domain-containing protein 3 (PNPLA3 ) gene has emerged as critical player. Variants PNPLA3 are associated with altered lipid metabolism, leading to increased hepatic fat accumulation subsequent inflammation fibrosis. Understanding role not only enhances our comprehension pathomechanisms driving SLD but also informs potential therapeutic strategies. The molecular mechanisms through which variants contribute dysregulation hepatocyte injury critically discussed present review article. We extensively analyze clinical cohorts population-based studies underpinning association between polymorphisms risk developing its liver-related protean extrahepatic outcomes, concert other modifiers, notably including age, sex, ethnicity adults children. discuss increasingly recognized played by transplantation, autoimmune hepatitis, acquired immunodeficiency syndrome. Finally, we examine implications diagnostics regarding stratification targeted therapies for patients affected context precision medicine approaches.

Language: Английский

Citations

0