alexa Succinate dehydrogenase and human diseases: new insights into a well-known enzyme.
Oncology

Oncology

Journal of Cancer Science & Therapy

Author(s): Rustin P, Munnich A, Rtig A, Rustin P, Munnich A, Rtig A

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Abstract Inherited defects of the mitochondrial succinate dehydrogenase (SDH) in humans are associated with striking variable clinical presentations ranging from early-onset devastating encephalomyopathy to tumour susceptibility in adulthood, or optic atrophy in the elderly. Although different genes encoding the four subunits of the SDH have been found mutated in association with these different phenotypes, we propose that the wide clinical spectrum actually originates from the specific roles of the SDH in the respiratory chain and the mitochondria. In particular, beside its function in the Krebs cycle and the respiratory chain, the specific redox properties of the enzyme could confer to the SDH a specific function in superoxide handling. This article was published in Eur J Hum Genet and referenced in Journal of Cancer Science & Therapy

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