Audo, Isabelle and Kohl, Susanne and Leroy, Bart P. and Munier, Francis L. and Guillonneau, Xavier and Mohand-Said, Saddek and Bujakowska, Kinga and Nandrot, Emeline F. and Lorenz, Birgit and Preising, Markus and Kellner, Ulrich and Renner, Agnes B. and Bernd, Antje and Antonio, Aline and Moskova-Doumanova, Veselina and Lancelot, Marie-Elise and Poloschek, Charlotte M. and Drumare, Isabelle and Defoort-Dhellemmes, Sabine and Wissinger, Bernd and Leveillard, Thierry and Hamel, Christian P. and Schorderet, Daniel F. and De Baere, Elfride and Berger, Wolfgang and Jacobson, Samuel G. and Zrenner, Eberhart and Sahel, Jose-Alain and Bhattacharya, Shomi S. and Zeitz, Christina (2009) TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. AMERICAN JOURNAL OF HUMAN GENETICS, 85 (5). pp. 720-729. ISSN 0002-9297, 1537-6605
Full text not available from this repository. (Request a copy)Abstract
Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can be assessed by standard full-field electroretinography (ERG), showing severely reduced rod b-wave amplitude and slightly altered cone responses. Although many cases of complete CSNB (cCSNB) are caused by mutations in NYX and GRM6, in similar to 60% of the patients the gene defect remains unknown. Animal models of human diseases are a good source for candidate genes, and we noted that a cCSNB phenotype present in homozygous Appaloosa horses is associated with downregulation of TRPM1. TRPM 1, belonging to the family of transient receptor potential channels, is expressed in ON bipolar cells and therefore qualifies as an excellent candidate. Indeed, mutation analysis of 38 patients with CSNB identified ten unrelated cCSNB patients with 14 different mutations in this gene. The mutation spectrum comprises missense, splice-site, deletion, and nonsense mutations. We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | METABOTROPIC RECEPTOR MGLUR6; ROD BIPOLAR CELLS; LIGHT RESPONSE; MUTATIONS; GENE; ELECTRORETINOGRAM; LOCALIZATION; PROTEIN; RICH; G-ALPHA(O); |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 02 Sep 2020 05:34 |
| Last Modified: | 02 Sep 2020 05:34 |
| URI: | https://pred.uni-regensburg.de/id/eprint/28135 |
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