The role of dysferlin in skeletal muscle

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/301946

Funding Status
Closed

Does something not look right? The information on this page has been harvested from data sources that may not be up to date. We continue to work with information providers to improve coverage and quality. To report an issue, use the .

Funded Activity Summary

Deficiency of the protein dysferlin causes muscular dystrophy, an inherited degenerative disorder of skeletal muscle. Interestingly, muscle disease due to deficiency of dysferlin does not occur until early adulthood. Affected individuals are very active with normal strength until this age and then there is rapid progression of weakness. Many patients lose the ability to walk within a few years of onset. Little is known about the functional role of dysferlin in muscle, how dysferlin deficiency results in muscular dystrophy, or why dysferlin-deficient muscle is functionally normal prior to the rapid onset of symptoms. Therefore, the goal of this study is to characterize the role of dysferlin in normal and diseased skeletal muscle. We will examine the consequence of dysferlin-deficiency in patient muscle biopsy samples and patient muscle cells in culture. We will assess the role of dysferlin in the fusion and formation of new muscle cells, examine the effect of dysferlin-deficiency on muscle membrane repair, and establish how normal and mutant dysferlin is made, trafficked and degraded within muscle cells. This research will have immediate applications to the diagnosis and counselling of patients with dysferlin-related disease. In addition it will provide valuable information concerning the mechanisms of disease, essential to the development of specific and successful therapies.

Funded Activity Details

Start Date: 01-01-2004

End Date: 01-01-2006

Funding Scheme: NHMRC Project Grants

Funding Amount: $319,625.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Biochemistry And Cell Biology Not Elsewhere Classified

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

analysis of mutant proteins associated with human disease | clinical and pathological investigation | disease mechanism | disease prevention | dysferlin | molecular diagnosis | muscular dystrophy | protein biochemistry | protein-protein interactions

Related Links