Human pathologies associated with mutations of mitochondrial genome

  • M.M. Ivanova The Institute for General Pathology and Pathophysiology RAMS, 8, Baltiyskaya str., Moscow, 125315, Russia; Skolkovo Innovations Centre, Institute for Atherosclerosis Research, Skolkovo Innovative Center, 143025, 100 Novaya Str., Moscow, Russia
  • E.N. Borodachev Skolkovo Innovations Centre, Institute for Atherosclerosis Research, Skolkovo Innovative Center, 143025, 100 Novaya Str., Moscow, Russia
  • M.A. Sazonova The Institute for General Pathology and Pathophysiology RAMS, 8, Baltiyskaya str., Moscow, 125315, Russia; Skolkovo Innovations Centre, Institute for Atherosclerosis Research, Skolkovo Innovative Center, 143025, 100 Novaya Str., Moscow, Russia; Russian Cardiology Research Center, 15a, 3rd Cherepkovskaya str., Moscow, 121552, Russia
Keywords: mutation, mitochondria, pathology, cytopathy, genome

Abstract

In this revue different mitochondrial cytopathys were characterized. For each cytopathy we named mutations associated with this type of human pathology. This article may be useful for practicing doctors who are trying to find the cause of the patient’s disease and for medical geneticists that are going to provide research in area of mitochondrial cytopathies.

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Published
2012-12-20
How to Cite
Ivanova M., Borodachev E., Sazonova M. Human pathologies associated with mutations of mitochondrial genome // Patologicheskaya Fiziologiya i Eksperimental’naya Terapiya (Pathological physiology and experimental therapy). 2012. VOL. 56. № 3. PP. 115–122.
Section
Reviews