Obesity-related genetic disorders are marked by severe, early-onset obesity caused by mutations that disrupt key biological mechanisms regulating hunger, energy balance, and fat storage. These disorders commonly impact systems such as the hypothalamic leptin-melanocortin signaling network, which plays a crucial role in controlling appetite and body weight, mainly through the melanocortin-4 receptor (MC4R) pathway. This review explores current management strategies and emerging therapies for genetic obesity disorders, highlighting the importance of treatment approaches and expanded genetic diagnostics to improve outcomes for affected individuals.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.ecl.2024.11.001 | DOI Listing |
Diabetes Obes Metab
March 2025
Helmholtz Institute for Metabolic, Obesity and Vascular Research (HI-MAG) of the Helmholtz Zentrum München, University of Leipzig and University Hospital Leipzig, Leipzig, Germany.
Obesity is a highly prevalent chronic multisystem disease associated with shortened life expectancy due to a number of adverse health outcomes. Epidemiological data link body weight and parameters of central fat distribution to an increasing risk for type 2 diabetes, hypertension, fatty liver diseases, cardiovascular diseases including myocardial infarction, heart failure, atrial fibrillation, stroke, obstructive sleep apnoea, osteoarthritis, mental disorders and some types of cancer. However, the individual risk to develop cardiometabolic and other obesity-related diseases cannot entirely be explained by increased fat mass.
View Article and Find Full Text PDFBMC Med
March 2025
Department of Nutrition and Food Hygiene, Children'S Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, Zhejiang, China.
Background: Individuals who smoke tend to have a lower body mass index (BMI) but face an increased risk of obesity-related diseases. This study investigates this paradox from the perspective of gut microbiota.
Methods: We conducted microbiome analyses to identify smoking-related microbial genera and created a smoking-related microbiota index (SMI) using 16S rRNA sequencing data from 4000 male participants in WELL-China cohort and Lanxi cohort.
J Clin Endocrinol Metab
March 2025
Department of Andrology, Concord Repatriation General Hospital, Sydney, NSW, Australia.
Pathologic hypogonadism occurs when serum testosterone is significantly and persistently reduced by irreversible organic (structural, genetic) disorders of the hypothalamic pituitary testicular (HPT) axis. Men with pathologic hypogonadism require life-long testosterone replacement. In contrast, mild or moderate reductions in serum testosterone frequently accompany obesity and its numerous co-morbidities in men and are best considered as non-gonadal illness syndromes, wherein reduction in serum testosterone is usually reversible upon amelioration of the underlying non-gonadal illness.
View Article and Find Full Text PDFFront Med (Lausanne)
February 2025
Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China.
encodes a nuclear protein, with functions in pre-mRNA splicing and the formation of nuclear speckles via liquid-liquid phase separation. Despite its critical role in cellular function, the association between and neurodevelopmental disorders is not well-understood. In this study, we reported a case of a patient exhibiting developmental delay, intellectual disability, delayed language development, facial dysmorphism, macrocephaly, short hands and feet, hyperphagia, and hypotonia, which are similar to the characteristics of previously reported cases of SRRM2-associated neurodevelopmental disorders.
View Article and Find Full Text PDFClin Cardiol
March 2025
Department of Traditional Chinese Medicine, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China.
Objectives: To elucidating the linkage between obesity-associated body fat indicators and atrial fibrillation (AF) using Mendelian Randomization (MR) and mediation analysis.
Methods: The study utilized three independent genome-wide association study (GWAS) datasets, with containing over 450 000 individuals each, to represent body fat indicators as the exposure variable. Additionally, two summary genetic datasets of AF were utilized as the clinical outcome.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!