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Improving gene therapy for congenital myasthenic syndrome

Dr Yin Dong and his team at the University of Oxford will use a mouse model of congenital myasthenic syndrome to test the efficacy of gene therapy in combination with a standard treatment for this condition.
Principal Investigator
Dr Yin Dong
University of Oxford
Official title
Gene therapy for congenital myasthenic syndromes with deficiency in acetylcholine receptors
24 months
Total cost


Congenital myasthenic syndrome (CMS) is an overarching term for conditions that cause muscle weakness as a consequence of decreased communication between muscular and nervous systems.

For efficient communication, a signal (carried by a molecule known as acetylcholine) travels from the nervous system (specifically, cells called motor neurons) to skeletal muscle cells that are involved in movement. The signal causes the muscle cells to contract and the muscle to move. The skeletal muscle cells receive the signal through specialised structures known as acetylcholine receptors.

When the number of acetylcholine receptors is reduced, the signal cannot be efficiently relayed from motor neurons into the muscle, causing the condition called receptor deficiency-CMS. Receptor deficiency-CMS gets worse with physical exertion because, although the signal is being sent repeatedly from the nerve cell, it cannot trigger the muscles to move. Standardised treatments are available, but their efficiency is quite poor and rarely lead to an improved lifestyle for people living with CMS.

A protein called DOK7 is responsible for the positioning of acetylcholine receptors at the tips of skeletal muscle cells. Gene therapy that increases the amounts of DOK7 in mouse models has previously been shown to improve the physical activity of mice in models for the conditions DOK7-CMS, amyotrophic lateral sclerosis, spinal muscular atrophy, and age-related motor impairment.

What are the aims of the project?

The main aims of this research include:

  1. Determine if the combination of the DOK7 gene therapy and the standard treatment is more effective than the standard treatment alone by using receptor-deficiency CMS mouse models.
  2. Determine the duration of efficiency of the combined treatment.
  3. Determine the minimum dose of DOK7 gene therapy that is needed to be used in combination with the standardised treatment.

Why is this research important?

This research could allow for discovery and generation of more efficient therapies for receptor-deficiency CMS, allowing people with the condition to potentially have an improved quality of life due to better treatment options. The research may, one day, pave the way to finding a cure for the condition.

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