Kritika Bhalla, Karen Rosier, Yenthe Monnens, Sandra Meulemans, Ellen Vervoort, Lieven Thorrez, Patrizia Agostinis, Daniel T Meier, Anne Rochtus, James L Resnick, John W M Creemers
Loss of prolyl endopeptidase-like (PREPL) encoding a serine hydrolase with (thio)esterase activity leads to the recessive metabolic disorder Congenital Myasthenic Syndrome-22 (CMS22). It is characterized by severe neonatal hypotonia, feeding problems, growth retardation, and hyperphagia leading to rapid weight gain later in childhood. The phenotypic similarities with Prader-Willi syndrome (PWS) are striking, suggesting that similar pathways are affected. The aim of this study was to identify changes in the hypothalamic-pituitary axis in mouse models for both disorders and to examine mitochondrial function in skin fibroblasts of patients and knockout cell lines...
April 14, 2024: Biochimica et Biophysica Acta. Molecular Basis of Disease