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New concepts for the treatment of mitochondrial myopathies

This PhD studentship, to be supervised by Professor Rita Horvath at the University of Cambridge, will explore whether controlling stress signals and taking nutritional supplements (by increasing the intake of particular protein building blocks, known as amino acids) can have a positive effect on treating non-reversible mitochondrial myopathies.
Principal Investigator
Professor Rita Horvath
University of Cambridge
Official title
Altering the cellular metabolism to treat mitochondrial myopathies
48 months
Total cost


Mitochondria are small structures that function as energy factories, or batteries within our cells. Reversible infantile respiratory chain deficiencies (RIRCD) are very rare mitochondrial diseases that are generally characterised by severe muscle weakness in infants, followed by spontaneous recovery at around six months of age. These conditions are caused by gene changes that have an effect on how amino acids are used in cells, triggering cellular stress. Recovery is generally attributed to the sudden availability of amino acids in infants with the conditions.

What are the aims of the project?

This project aims to:

  1. Explore whether controlling stress signals and supplementing the diet with key amino acids could be used as therapy for non-reversible mitochondrial myopathies.
  2. Understand if supplementing the diet with key amino acids can delay the onset of mitochondrial myopathy symptoms in a zebrafish model of the condition.

Why is this research important?

This project aims to enhance our knowledge of the biology underlying mitochondrial myopathies, which could be used as a strong base for developing new therapies in the future. Importantly, this research will shed light on whether supplementing the diet with key amino acids can help in managing symptoms of mitochondrial myopathies. By changing the strength of muscle cells, this could become a safe and simple treatment for people with the condition.

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