Characterization of DMWD and its role in Myotonic Dystrophy (DM1)

Contains fulltext : 19354_charofdma.pdf (publisher's version ) (Open Access)The study on 'Characterization of DMWD and its role in Myotonic Dystrophy (DM1)' has provided us with improved insight into the role and fate of the DMWD protein in different tissues like brain and testis of mouse, as a model for the situation in humans. We conclude from our work that DMWD could be a good candidate for being involved in (some of) the brain related symptoms and testis related symptoms seen in Myotonic Dystrophy patients. Moreover, by combining bio-informatics and wet-laboratory approaches knowledge was gathered on associating partners of DMWD and the molecular structure of the DMWD protein. Finally, we studied the significance of an evolutionarily conserved DMWD-homologous product in an easily accessible model organism, C. elegans. The widespread occurrence of DMWD throughout the eucaryotic kingdom, its broad expression range, the different molecular weights (hence molecular surroundings) in brain and testis, and its various subcellular locations suggest that DMWD might have more than one biological function or has a very dynamic regulatory role. All these investigations were performed to obtain clues about the biological function(s) of DMWD and its possible pathophysiological relevance in human DM patients.143 p