Mitochondrial Disease

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Mitochondrial Disease comprises a group of rare diseases that are caused by mitochondrial dysfunction. Typically this dysfunction arises from mutations in genes coding for mitochondrial proteins or transfer RNAs. These mutations may arise in the nucleus or in the mitochondrial genome itself. If they arise in the mitochondrial genome, then the disease will be inherited through the maternal line. Examples of this latter group of diseases include MELAS, Leber’s hereditary optic neuropathy (LHON), Leigh syndrome, NARP and MERRF.

Whilst these diseases are rare (affecting from 1 in 10,000 to 1 in 100,000 people in Western countries) the effects are extremely debilitating. MELAS is characterised by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. The disease starts in childhood and is usually caused by mutations in mitochondrial DNA. Because eggs cells but not sperm cells contribute mitochondria to the developing embryo, only females pass these mutations to their children. Less commonly, the disease results from a new mutation in a mitochondrial gene and occurs in people with no family history of MELAS. MERFF (myoclonic epilepsy with ragged red fibres) is an extremely rare mitochondrial disease characterised by the ragged red muscle fibres which give the disease its name. Like MELAS symptoms typically appear in childhood, and the disease is caused by mutations in the mitochondrial genome.

There are no truly effective treatments for rare mitochondrial diseases today. High doses of Coenzyme Q10, B complex vitamins and L-Carnitine are sometimes used to try to mitigate the metabolic dysfunction characteristic of these diseases, so far with very limited results. Our SB200 research program is directed towards creating an effective therapeutic drug with significantly greater clinical efficacy than current treatments. SB200 is a small drug molecule in pre-clinical development at Shift Bioscience, that can decrease the proportion of mitochondrial mutations in a cell population, thereby partially restoring mitochondrial function.

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