Context: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We recently characterized a mutation in the leptin gene (p.D100Y), which was associated with detectable leptin levels and bioinactivity of the hormone.
Case Description: We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin. In vitro experiments in a heterologous cell system demonstrated that the mutated protein was biologically inactive. Treatment with sc recombinant human leptin led to rapid improvement of eating behavior and weight loss.
Conclusions: Sequencing of the leptin gene may need to be considered in hyperphagic, severely obese children with detectable levels of circulating leptin.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570156 | PMC |
| http://dx.doi.org/10.1210/jc.2015-2263 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Preclinical development of a standardized extract of Ilex paraguariensis A.St.-Hil for the treatment of obesity and metabolic syndrome.
Pharmacol Res
January 2025
Centro de Inovação e Ensaios Pré-Clínicos. Avenida Luiz Boiteux Piazza, 1302 Cachoeira do Bom Jesus, 88056-000 Florianópolis, Santa Catarina, Brazil. Electronic address:
Obesity is a global epidemic often associated with serious medical complications such as diabetes, hypertension and metabolic dysfunction-associated steatohepatitis. Considering the multifactorial nature of these diseases, medicinal plants could be a valuable therapeutic strategy as their phytoconstituents interact with multiple and relevant biological targets. In this context, Ilex paraguariensis emerges as a potential alternative to treat obesity and associated metabolic diseases since several studies have demonstrated its anti-inflammatory, anti-obesity and anti-diabetic effects.
View Article and Find Full Text PDFAdipose tissue may not be a major player in the inflammatory pathogenesis of Autism Spectrum Disorder.
Brain Behav Immun Health
February 2025
Institute of Maternal and Child Medicine, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China.
Purpose: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder increasingly recognized for its strong association with chronic inflammation. Adipose tissue functions as an endocrine organ and can secrete inflammatory cytokines to mediate inflammation. However, its involvement in ASD-related inflammation remains unclear.
View Article and Find Full Text PDFfruit extract preadipocyte differentiation inhibition in 3T3-L1 cells.
J Taibah Univ Med Sci
December 2024
Department of Veterinary Pre-Clinical Science, Faculty of Veterinary Medicine, Universiti Putra Malaysia, Serdang, Selangor, Malaysia.
Objective: Concerns over the increasing number of obese individuals and the associated health risks have prompted therapeutic option explorations. Similarly, this study aimed to establish fruit extract (SCFE) anti-adipogenic attributes in 3T3-L1 cells.
Methods: The polyphenolic compounds in SCFE were identified with Reverse phase-high performance liquid chromatography (RP-HPLC).
Prospective association of changes in (poly)phenol intake, body weight and physical activity with inflammatory profile.
Nutr Metab Cardiovasc Dis
December 2024
Unit of Nutrition and Cancer, Cancer Epidemiology Research Programme, Catalan Institute of Oncology (ICO), Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.
Backgrounds And Aim: To prospectively evaluate the associations between changes in (poly)phenol intake, body weight(BW), and physical activity(PA) with changes in an inflammatory score after 1-year.
Methods And Results: This is a prospective observational analysis involving 484 participants from the PREDIMED-Plus with available inflammatory measurements. (Poly)phenol intake was estimated using a validated semi-quantitative food frequency questionnaire and the Phenol-Explorer database.
The relationship between dietary branched-chain and aromatic amino acids with the regulation of leptin and FTO genes in adipose tissue of patients undergoing abdominal surgery.
Amino Acids
January 2025
Department of Nutrition, School of Public Health, Iran University of Medical Sciences, Tehran, Iran.
Recent studies have suggested that the interaction between diet and an individual's genetic predisposition can determine the likelihood of obesity and various metabolic disorders. The current study aimed to examine the association of dietary branched-chain amino acids(BCAAs) and aromatic amino acids(AAAs) with the expression of the leptin and FTO genes in the visceral and subcutaneous adipose tissues of individuals undergoing surgery. This cross-sectional study was conducted on 136 Iranian adults, both men and women, aged ≥18 years.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!