ESPE Abstracts

Background: Animal and human studies have shown that nicotinamide phosphoribosyltransferase (NAMPT), the key enzyme of mammalian NAD biosynthesis from nicotinamide, is modified in non-alcoholic fatty liver disease. Here, we investigated the effect of a high fat diet on hepatic NAD metabolism in mice.Objective and hypotheses: A dysregulation of NAD metabolism is a pathogenic factor for the development of steatohepatitis (NASH).Metho...

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

Background: Cancer cells have a high NAD turnover rate due to their increased cell proliferation and DNA repair. Nicotinamide phosphoribosyltransferase (NAMPT) is the key enzyme of the NAD salvage pathway, a regulator of the intracellular NAD pool and of the activity of Sirtuins (SIRTs), a class of NAD-dependent deacetylases.Objective and hypotheses: Cancer cells are highly dependent on NAD and are expected to be more susceptible to an inhibition of NAD ...

Background/aim: Sorafenib® is a multi-kinase inhibitor and one of the few systemic treatment options for patients with advanced hepatocellular carcinomas (HCCs). Resistance to Sorafenib® develops frequently and could be mediated by the NAD dependent deacetylase sirtuin (SIRT) 1, a master regulator of cellular energy metabolism and stress responses. We aimed to find out if Sorafenib® treatment depends on changes in cellular NAD le...

To attain sexual competence, all mammalian species go through puberty, a maturational period during which body growth and development of secondary sexual characteristics occurs. Puberty begins with the reawakening of the gonadotropin-releasing hormone (GnRH) pulse generator. Reduction in inhibitory transsynaptic inputs combined with increased transsynaptic and glial excitatory inputs to the GnRH neuronal network are responsible for pubertal activation of GnRH neuro-secretion. ...

Introduction: There are the inconsistent data about a role cellular and humoral immunity in pathogenesis of type 1 diabetes mellitus.The aim: The aim of this research was to study features of the immune status and of the activity of metabolic enzymes in lymphocytes of blood in children with type 1 diabetes.Methods: Cellular and humoral immunity parameters were studied in 94 patient...

Background: A child with slow growth rate (<−2 SDS) polyuria and polydipsia warrants urgent investigation for hypothalamic–pituitary tumors.Objective and hypoyhesis: To present the case of a boy with slow growth rate, polyuria NAD polydipsia due to remnant craniopharyngeal duct.Method: Boy 11 years old, was evaluated because of short stature and slow growth rate documented for 2 years. He reported no headaches but he...

Background: Sirtuins are NAD+-dependant protein deacetylases that target histones, transcription factors, co-regulators, as well as metabolic enzymes to adapt gene expression and metabolic activity in response to the cellular energy state. SIRT1 and SIRT2 are two important enzymes of sirtuin family. SIRT1 has an important role in glucose metabolism and improves glucose homeostasis. It can also regulate fatty acid oxidation and hepatic cholesterol and bile acid metab...