In 2013 ISMRD joined in partnership with the US MPS Society to put together research funds of $40,000 to support Mucolipidosis research.The following project was chosen.
Investigating the Role of Cathespsin Proteases in ML II Cardiac Pathology – Heather Flanagan-Steet
Summary of Project:
Heather reports that they have made progress on several aspects of this grant. In addition to progress on the proposed studies, we have made two important advances that will have a major impact on our ongoing pursuit of molecular mediators of MLII cardiac pathology. These include the generation of several unique TALEN-mediated and TILLING based MLII mutant lines. During this year we not only established pure stable lines, but we also confirmed the genetic and biochemical characteristics of these lines. These animals are essential to confirm all of our morpholino-based findings, for analyses of later stage aspects of disease, and for small molecule screens. Importantly, several of the lines exhibit the same craniofacial and cardiac anomalies noted in morpholino-generated animals. Using both TALEN-generated and morpholino based animals, we continue to assess the impact of cathepsin proteases in disease pathology. Toward this goal genetic and pharmacological inhibition studies are beginning to yield promising results regarding the impact of cathepsin during pathogenesis.