Endocrine Abstracts

Objective: The NKX2-1 gene, also known as TITF-1, TTF-1 or T/ebp, is a member of the homeodomain-containing NK-2 transcription factor gene family and expressed in early development of thyroid, lung and forebrain. Initial screening of patients with isolated congenital hypothyroidism failed to show mutations. The first human heterozygous deletion affecting the NKX2-1 gene to be reported was a neonate with respiratory failure, primary hypothyroidism and neurological signs matchin...

The melanocortin 4 receptor (MC4R) represents the major hypothalamic G-protein coupled receptor (GPCR) controlling feeding behavior and therefore body weight regulation. MC4R is highly expressed in the paraventricular nucleus (PVN) where hormonal and neuroendocrine signals from periphery and arcuate nucleus (ARC) are allocated. MC4R knockout in mice or natural occurring loss-of function variants result in hyperphagia and early-onset obesity. MC4R mutations represent the most f...

Introduction: In the past 20 years, obesity has become a major health problem occurring as well in adults as in children. Beside environmental influences on body weight, the genetic background of a person plays an important role in body weight control. After the description of monogenetic mutations linked to obesity most current studies investigate polygenetic forms of obesity.Recent studies showed an association between two SNPs, located in the promoter...