ESPE Abstracts

Background: Heat generation in UCP-1 active cells as present in brown adipose tissue contributes to the regulation of energy homeostasis. Brown adipose tissue is known to be present in neonates and infants and has recently also been demonstrated in children and adults. Interestingly, a transition of white adipocytes into a brown phenotype has been documented in vitro in mouse and human cells, yet the underlying mechanisms are still not resolved. Using transcriptome an...

Background: Secretion of catecholamines by adipose tissue M2 macrophages was recently proposed as a molecular mechanism leading to activation of brown adipose tissue and heat generation in mice. However, published data are conflicting and it is not clear whether this pathway might play a role in humans. To shed light on this, we studied macrophage polarization in human white and brown adipose tissue and related it to thermogenic gene expression.Methods: ...

Background: Congenital generalized lipodystrophy (CGL) is characterized by the absence of most adipose tissue at birth due to an adipocyte differentiation block. For several forms of CGL, the underlying mutation and pathophysiological pathway has been identified. However, for many cases the genetic cause is still unknown.Objective and hypotheses: We report a patient with CGL who showed a complete absence of fat apart from protective fat pads in a postnat...

MicroRNAs (miRNAs) are small non-coding RNA molecules and play an important role in the post-transcriptional regulation of gene expression and thereby influence important cellular functions. In adipocytes, miRNAs regulate key processes such as differentiation, inflammation, metabolism, and adipokine secretion. Recently, we found that miR-27a is upregulated under proinflammatory conditions in human adipocytes. Thus, our goal was to better understand the function of miR-27a in a...

We report the case of a 19 years old male patient suffering from a multisystem disease involving of the skeleton, connective tissue, immune system, brain and endocrine system due to compound-heterozygote mutations in the NBAS (Neuroblastoma amplified sequence) gene (c.5741G>A [p.(Arg1914His)]; c.6565_6566insT [p.(Glu2189Valfs*7)]), detected using whole-exome-sequencing. He has an immunodeficiency including decreased CD4+T-cells, B-cells and NK-cells with expanded ...

Background: Functional studies on uncoupling protein 1 (UCP1) are important to identify potential pharmacological targets which interfere with energy metabolism. However, current cell models of human origin are scarce due to limited tissue availability. In this study, we generated human preadipocytes and adipocytes with an overexpression of UCP1 and studied the metabolic function of these cells.Methods: Human Simpson-Golabi-Behmel syndrome (SGBS) cells w...

Introduction: GDM prevalence is increasing worldwide. The aim of the study was to identify potentially modifiable predictors of adverse neonatal outcomes in women with GDM.Methods: This prospective observational study included 576 singleton multiethnic women diagnosed with GDM after 13 weeks of gestational age, followed in the Diabetes and Pregnancy Unit of the CHUV between 4/2012 and 2/2017. Predictors included HbA1c at booking after GDM diagnosis and a...

Background: Upon excessive expansion, adipose tissue is infiltrated by macrophages and shows increased production of inflammatory cytokines. This chronic low grade inflammation of adipose tissue is involved in the pathogenesis of insulin resistance. A supplementation with resveratrol can reverse the metabolic disturbances of human obesity, in part by mimicking the effects of caloric restriction.Objective and Hypotheses: We hypothesized that the beneficia...

Background: Leptin is produced by adipocytes and regulates central hunger and satiety sensation. While the central leptin effects are well understood, little is known about the regulation of peripheral leptin production. Clinical data demonstrate that leptin levels are rapidly declining upon fasting, suggesting that leptin secretion is acutely regulated by nutrient availability. Although it has been previously shown that leptin secretion is under control by gl...

Recently, we identified Neuritin 1 (NRN1) as preferentially expressed in human white compared to brown adipocyte progenitor cells. In mice, Nrn1 deficiency leads to a reduction in body weight, indicating that it might regulate body weight. In this study, we aim to address the function of NRN1 regarding adipocyte metabolism in vitro and in vivo. We used human SGBS preadipocytes as an in vitro model system. NRN1-deficient cells were generated using len...