Characterization of the melanocortin-4-receptor nonsense mutation W16X in vitro and in vivo

• Published in: The pharmacogenomics journal Vol. 13; no. 1; pp. 80 - 93
• Main Authors: Bolze, F, Rink, N, Brumm, H, Kühn, R, Mocek, S, Schwarz, A-E, Kless, C, Biebermann, H, Wurst, W, Rozman, J, Klingenspor, M
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.02.2013; Nature Publishing Group
• Subjects: 631/1647/1513/1967; 631/208/212/1728; 631/208/737; 631/443/319/1642/393; Amikacin; Aminoglycoside antibiotics; Aminoglycosides; Aminoglycosides - genetics; Aminoglycosides - metabolism; Animals; Biomedical and Life Sciences; Biomedicine; Body Composition - genetics; Body length; Body Temperature - genetics; Body Weight - genetics; Cell culture; Cell Line; Cell receptors; Central nervous system; Cercopithecus aethiops; Codon, Nonsense; COS Cells; Energy Intake - genetics; Gene Expression; Gene Expression - genetics; Gene mutations; Gene targeting; Genetic aspects; Genetic disorders; Gentamicin; Glucose tolerance; HEK293 Cells; Human Genetics; Humans; Hyperphagia; Hypothalamus - metabolism; Melanocortin; Melanocortin MC4 receptors; Mice; Mice, Inbred C57BL; Mutation; Nonsense mutation; Obesity; Obesity - genetics; Obesity - metabolism; Oncology; original-article; Pharmacotherapy; Physiological aspects; Psychopharmacology; Receptor, Melanocortin, Type 4 - genetics; Receptor, Melanocortin, Type 4 - metabolism; Germany; aminoglycosides; nonsense suppression; obesity; melanocortin-4-receptor

Several genetic diseases are triggered by nonsense mutations leading to the formation of truncated and defective proteins. Aminoglycosides have the capability to mediate a bypass of stop mutations during translation thus resulting in a rescue of protein expression. So far no attention has been direc...