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A specific variant of the LEPR gene is associated with obesity, according to a study in Chinese adolescents of Han ethnicity. The research, “Association study between LEPR, MC4R polymorphisms and overweight/obesity in Chinese Han adolescents,” was published in the journal Gene. According to previous studies,…

Loss of a protein called Tbx3 leads to glucose intolerance and obesity, with associated changes in the identity of key groups of neurons implicated in appetite, according to new research in animal models and in human cells. The study, “Functional identity of hypothalamic melanocortin neurons depends on…

A person’s thinness, like obesity, is a heritable trait linked to multiple genes, and slimmer people carry fewer genetic variants that increase the risk for obesity, a new study shows. The study, “Genetic architecture of human thinness compared to severe obesity,” was published in the journal PLOS Genetics.

A new type of mutation affecting the BBS1 gene was identified in a patient diagnosed with Bardet-Biedl syndrome (BBS), a case report states. The study, “Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome,” was published in the journal Molecular Genetics & Genomic Medicine.

A new mutation in the leptin receptor (LEPR) gene, leading to loss of the LEPR protein, has been identified in male and female members of an Iranian family, a study reports. However, the outcomes of the mutation varied with gender — in males, early-onset obesity began to decrease around puberty…

A report describes the rare case of a woman with Bardet-Biedl syndrome (BBS), endometrial cancer, signs of excess estrogen, and who underwent removal of her uterus and fallopian tubes. The case report, “Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome,” was published in the journal…

A case report of an Iranian patient with Bardet-Biedl syndrome (BBS) identified two new mutations associated with the genetic condition. The findings were established using a large-scale gene sequencing approach known as next-generation sequencing. The case report, “Identification of A Novel Compound Heterozygous Mutation in BBS12 in An…

Levels of a protein called fibronectin in urine of Bardet-Biedl syndrome (BBS) patients correlate with renal dysfunction, a study shows, suggesting that fibronectin could be a potential biomarker for BBS patients at risk of kidney failure. The study, “Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline…

Targeting the Iroquois homeobox 3 (IRX3) gene in a particular type of neuron located in the hypothalamus — the brain region regulating body fat — is a potential strategy for treating obesity, a new study shows. The study, “The partial inhibition of hypothalamic IRX3 exacerbates obesity” was published in the…

With its first enrollee, Rhythm Pharmaceuticals has begun a pivotal Phase 3 trial to assess the therapeutic benefits of setmelanotide in patients with moderate-to-severe Bardet-Biedl syndrome…