Collagen VI genes make a range of proteins that are important for the protection and stabilisation of muscle cells. Mutations in collagen VI genes (particularly COL6A1, COL6A2 and COL6A3) cause congenital muscular dystrophies, such as Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD).
In most cells, some processes are regulated in a cyclic way, occasionally coinciding with the daily 24-hour cycle. This cyclic process is sometimes called the circadian, or internal body, clock. Dr Pekovic-Vaughan’s work is based on the hypothesis that circadian clock proteins (proteins that regulate bodily processes according to a 24-hour cycle) become affected in people with collagen VI congenital muscular dystrophy.
What are the aims of the project?
The project aims to determine:
(1) whether disease severity in congenital muscular dystrophy affects molecular clock genes,
(2) the role of circadian clocks in regulating responses to therapies, and
(3) which clock-controlled molecular pathways become altered in cells from patients.
Why is this research important?
The exploration of circadian clock proteins in neuromuscular conditions is a novel approach. This project will provide information on the relationship between the expression of clock proteins and the pathology of congenital muscular dystrophy, and may lead to new targets for drugs and treatments. It is possible that the study of clock proteins will lead to new concepts about the timing of treatments and how they relate to circadian cycles.
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