C9 -Clinical and functional characterization of a novel monogenic obesity trait

Within this project we aim to characterize a novel monogenic obesity trait in a patient with early-onset obesity carrying a yet undescribed mutation in the ASIP (Agouti signaling peptide) gene locus associated with ectopic ASIP overexpression. For this, we will perform a detailed characterization of the patient and address how the clinical phenotype of the patient might be explained by the mutation. Furthermore, we will investigate the role of ASIP in physiological processes related to obesity in cell culture models and in mouse models. Finally, we will assess in available obesity cohorts whether there are more, so far unidentified patients carrying mutations in the ASIP gene.