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Mitochondrial Diseases

Fluorescent microscopy image of the mitochondria (red) and cell nucleus (blue) of two MEF cells. The mitochondria were stained with a DsRed derivative that localises to the mitochondrial matrix, and the nucleus was stained with DAPI. By Institute of Molecular Medicine I, University of Düsseldorf - Own work, CC BY 4.0, https://commons.wikimedia.org/w/index.php?curid=67134066
Fluorescent microscopy image of the mitochondria (red) and cell nucleus (blue) of two MEF cells. Image: Institute of Molecular Medicine I, University of Düsseldorf

Mitochondrial myopathies or mitochondrial cytopathies are a clinically heterogeneous group of disorders that are caused by mutations in either the nuclear genome affecting predominantly the respiratory chain or in the mitochondrial DNA itself. Symptoms of mitochondrial myopathies include muscular and neurological problems such as muscle weakness, exercise intolerance, hearing loss, trouble with balance and coordination, seizures and learning deficits. Mitochondrial dysfunction is observed in a multitude of neuromuscular diseases including congenital muscular dystrophies including but not limited to Duchenne Muscular Dystrophy, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy, and Myotonic Dystrophy.

 

Groups

Victoria Nesbitt: Rare Mitochondrial Diseases Service

Joanna Poulton: Mitochondrial Genetics Research

Stefen Brady

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