CFH1 Research - Validation of preclinical models of ZAK-linked myopathy

Muscle disease can be caused by rare genetic defects. Although infrequent in the general population, in particular geographical or cultural scenarios that instigate inbreeding, these genetic defects can cause disease in individuals born from first cousins. The ZAK gene has been found disrupted in patients from unrelated consanguineous families. ZAK is a kinase that belongs to the family of so called "stress proteins", which activate stress pathways in the cell in response to stimuli. This project will undertake the analysis of animal models lacking ZAK to obtain an accurate picture of the ZAK myopathy. We plan to use this knowledge to direct further characterizations of disease mechanism in a larger research application.