Grant: CIHR Fellowship

Hereditary cytoplasmic body myopathy with early respiratory failure (HCBM) is a hereditary muscle disease which selectively affects muscles required for breathing, early in its disease course (among other select muscles). Respiratory dysfunction also occurs in other muscle diseases but it is not understood why some diseases involve the respiratory muscles more than others. The genetic basis of HCBM has not yet been discovered, and will be studied from DNA samples and muscle tissue from patients with this condition. Once the gene is identified we will study the protein produced by this gene. We will explore to what extent different muscles contain this protein, and where the protein acts within the cell. Further study will be dedicated to understanding the role of this protein in other muscle diseases, to see if this protein is implicated in respiratory failure in other, more common muscle diseases. Using specialized techniques, the gene expression profile of HCBM will be studied and compared with other muscle diseases to see if this provides insight to the mechanism of respiratory muscle failure in these conditions. Respiratory failure is the most important cause of mortality and morbidity in muscle disease. Potentially, the study of this condition will improve our knowledge of the development of respiratory failure in a number of muscle diseases, and identify targets for prevention and treatment.