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Diagnosis of primary mitochondrial myopathies using MRI to measure how muscles use oxygen

Dr Robert Pitceathly, University College London, will use a special MRI technique to measure how muscles use oxygen in people with primary mitochondrial myopathy. Ultimately this approach should help diagnose primary mitochondrial myopathy, which has so far proved to be challenging.
Principal Investigator
Dr Robert Pitceathly
University College London
Official title
Measurement of muscle oxygen extraction fraction using MRI as a disease biomarker in primary mitochondrial myopathies
12 months
Total cost
Mitochondrial myopathy

Project background

Mitochondria are considered to be cellular batteries, providing energy to the cell. These small structures produce most of the energy required for cellular function. Changes in the genes that control mitochondria can cause a variety of health conditions, including primary mitochondrial myopathies (PMM). People with PMM experience muscle weakness and fatigue. PMM is not easy to diagnose, and effective treatments are lacking.

While magnetic resonance imaging (MRI) has proven to be an effective tool in the diagnosis and monitoring of a variety of muscle conditions, the slow progression of PMM makes it challenging for the MRI to generate good results. Oxygen extraction fraction (OEF), a newer MRI test, can measure oxygen used by the muscles, and potentially help diagnosis and monitoring of PMMs.

Project aims

This study aims to compare the muscles of people with and without PMM using the MRI OEF test to establish if the method can be used to diagnose and monitor PMM; to establish the connection between how much oxygen muscles are using ‒ muscles need oxygen to move and contract; and the severity of the condition.

Why this research is important

Given how difficult it is to diagnose PMM, if this approach shows promising results, it has the potential to help in diagnosing and monitoring the progression of PMM. This is essential for the care of people living with the condition. This approach could also be tested for the detection of other muscle conditions.

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