Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome
Year: 2011
Type: article
Abstract: Urinary bladder malformations associated with bladder outlet obstruction are a frequent cause of progressive renal failure in children. We here describe a muscarinic acetylcholine receptor M3 (CHRM3) (1q41-q44) homozygous frameshift mutation in familial congenital bladder malformation associated with a prune-belly-like syndrome, defining an isolated gene defect underlying this sometimes devastating disease. CHRM3 encodes the M3 muscarinic acetylcholine receptor, which we show is present in developing renal epithelia and bladder muscle. These observations may imply that M3 has a role beyond its known contribution to detrusor contractions. This Mendelian disease caused by a muscarinic acetylcholine receptor mutation strikingly phenocopies Chrm3 null mutant mice.
Authors: Stefanie Weber, Holger Thiele, Sevgi Mir, Mohammad Reza Toliat, Betül Sozeri, Heiko Reutter, Markus Draaken, Michael Ludwig, Janine Altmüller, Peter Frommolt, Helen M. Stuart, Parisa Ranjzad, Neil A. Hanley, Rachel Jennings, William G. Newman, Duncan T. Wilcox, Uwe Thiel, Karl Peter Schlingmann, Rolf Beetz, Peter F. Hoyer, Martin Konrad, Franz Schaefer, Peter Nürnberg, Adrian S. Woolf
Institutions: University Hospital Heidelberg, Essen University Hospital, University of Cologne, University of Bonn, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, Manchester Academic Health Science Centre, University of Manchester, St Mary's Hospital, Children's Hospital Colorado, München Klinik Schwabing, University Hospital Münster, University Medical Center of the Johannes Gutenberg University Mainz
Language: English
Subfield: Urology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $5,150
Funders: Wellcome Trust, Kidney Research UK, Kids Kidney Research, Bundesministerium für Bildung und Forschung, KfH-Stiftung Präventivmedizin, European Renal Association-European Dialysis and Transplant Association, Manchester Biomedical Research Centre, National Institute of General Medical Sciences
OpenAlex ID: W2013848738