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School of Physical and Chemical Sciences

Ka Fu Man

Ka Fu

Research Student

Room Number: Joseph Priestley Building, First floor


Project title: Computational modelling of myosin mutants for the treatment of congenital myopathies

Supervisor: Arianna Fornili

Content:  Congenital myopathies are genetic diseases characterised by variable severeness of muscle contractures and abnormalities in muscle biopsy samples. The overall prevalence of this disease has been approximated to be 1:26000. MYH2 congenital myopathies are due to mutations in the MYH2 gene, which encodes for fast type IIa myosin, one of the most abundant myosin isoforms in skeletal muscle. Although the clinical features vary in different mutations, almost all variants are associated with pronounced opthalmoparesis and muscle weakness in different parts of the body. As a result, patients often have shortened life expectancies. Current treatment mainly consists of supportive management and no cure is available to date.

Following the breakthrough discovery of the cardiac myosin modulator Omecamtiv Mecarbil, recent research has focused on the development of compounds that can target specific myosin isoforms and modify their function. The aim of this project is to model the structure and dynamics of MYH2 mutants in order to understand the molecular basis of the disease and provide structural information for the design of compounds that could restore normal function in skeletal myosin.

Funding: Engineering and Physical Sciences Research Council (EPSRC) / QMUL doctoral training partnership.


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