Extreme obesity and leptin receptor deficiency. A case report

obesity, leptin and leptin receptors

Kinin B1 receptor deficiency leads to leptin hypersensitivity and resistance to obesity.

OBJECTIVE Kinins mediate pathophysiological processes related to hypertension, pain, and inflammation through the activation of two G-protein-coupled receptors, named B(1) and B(2). Although these peptides have been related to glucose homeostasis, their effects on energy balance are still unknown. RESEARCH DESIGN AND METHODS Using genetic and pharmacological strategies to abrogate the kinin B...

Melanocortin-4 Receptor Deficiency Phenotype with an Interstitial 18q Deletion: A Case Report of Severe Childhood Obesity and Tall Stature

Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, a...

the association of polymorphisms in leptin/leptin receptor genes and ghrelin/ghrelin receptor genes with overweight/obesity and the related metabolic disturbances: a review

conclusions in general, our study suggests that the association between lep/lepr and ghrl/ghsr with overweight/obesity and the related metabolic disturbances is inconclusive. these results may be due to unidentified gene-environment interactions. more investigations are needed to further clarify this association. results the most prevalent leptin/leptin receptor genes (lep/lepr) and ghrelin/ghr...

Cernunnos deficiency: a case report.

B cell-negative severe combined immunodeficiency (SCID) is caused by molecules involved in the variable (diversity) joining (V[D]J) recombination process. Four genes involved in the nonhomologous end joining pathway--Artemis, DNA-PKcs, DNA ligase 4, and Cernunnos--are involved in B cell-negative radiosensitive SCID. Deficiencies in DNA ligase 4 and the recently described Cernunnos gene result i...