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Nucleus-driven mutations of human mitochondrial DNA

  • Mitochondrial DNA And Associated Disorders
  • Published:
Journal of Inherited Metabolic Disease

Summary

Neuromuscular disorders due to abnormalities of mitochondrial energy supply have become an important area of human pathology. In particular, lesions of the mitochondrial genome (mtDNA), a small extra-nuclear chromosome which encodes 13 subunits of the respiratory chain complexes, are responsible for a steadily increasing number of neuromuscular syndromes. In addition to sporadic or maternally-inherited mutations, either qualitative or quantitative abnormalities of mtDNA can be transmitted as Mendelian traits, leading to well-defined mitochondrial encephalomyopathies. The latter are presumably caused by mutations in still unknown nucleus-encoded genes which deleteriously interact with the mitochondrial genome. These observations are of importance from both clinical and theoretical points of view, because they are the first examples of diseases produced by abnormalities of the nuclear control over mitochondrial biogenesis.

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  1. Istituto Nazionale Neurologico ‘C Besta’, Divisione di Biochimica e Genetica, via Celoria 11, 20133, Milano, Italy

    M. Zeviani

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Zeviani, M. Nucleus-driven mutations of human mitochondrial DNA. J Inherit Metab Dis 15, 456–471 (1992). https://doi.org/10.1007/BF01799604

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