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Ryzhkova AI, Sazonova MA, Sinyov VV, et al. Mitochondrial diseases caused by mtDNA mutations: a mini-review. Ther Clin Risk Manag. 2018;14:1933-1942doi: 10.2147/TCRM.S154863.
Ryzhkova, A. I., Sazonova, M. A., Sinyov, V. V., Galitsyna, E. V., Chicheva, M. M., Melnichenko, A. A., Grechko, A. V., Postnov, A. Y., Orekhov, A. N., & Shkurat, T. P. (2018). Mitochondrial diseases caused by mtDNA mutations: a mini-review. Therapeutics and clinical risk management, 141933-1942. https://doi.org/10.2147/TCRM.S154863
Ryzhkova, Anastasia I, et al. "Mitochondrial diseases caused by mtDNA mutations: a mini-review." Therapeutics and clinical risk management vol. 14 (2018): 1933-1942. doi: https://doi.org/10.2147/TCRM.S154863
Ryzhkova AI, Sazonova MA, Sinyov VV, Galitsyna EV, Chicheva MM, Melnichenko AA, Grechko AV, Postnov AY, Orekhov AN, Shkurat TP. Mitochondrial diseases caused by mtDNA mutations: a mini-review. Ther Clin Risk Manag. 2018 Oct 09;14:1933-1942. doi: 10.2147/TCRM.S154863. eCollection 2018. PMID: 30349272; PMCID: PMC6186303.
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Ther Clin Risk Manag. 2018 Oct 09;14:1933-1942. doi: 10.2147/TCRM.S154863. eCollection 2018.

Mitochondrial diseases caused by mtDNA mutations: a mini-review.

Therapeutics and clinical risk management

Anastasia I Ryzhkova, Margarita A Sazonova, Vasily V Sinyov, Elena V Galitsyna, Mariya M Chicheva, Alexandra A Melnichenko, Andrey V Grechko, Anton Yu Postnov, Alexander N Orekhov, Tatiana P Shkurat

Affiliations

  1. Laboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow, Russian Federation, [email protected].
  2. Department of Virology, K.I. Skryabin Moscow State Academy of Veterinary Medicine and Biotechnology-MVA, Moscow, Russian Federation, [email protected].
  3. Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow, Russian Federation.
  4. Department of Genetics, Southern Federal University, Rostov-on-Don, Russian Federation.
  5. Federal Research and Clinical Center of Reanimatology and Rehabilitology, Moscow, Russian Federation.
  6. Institute for Atherosclerosis Research, Skolkovo Innovative Centre, Moscow Region, Russian Federation.

PMID: 30349272 PMCID: PMC6186303 DOI: 10.2147/TCRM.S154863

Abstract

There are several types of mitochondrial cytopathies, which cause a set of disorders, arise as a result of mitochondria's failure. Mitochondria's functional disruption leads to development of physical, growing and cognitive disabilities and includes multiple organ pathologies, essentially disturbing the nervous and muscular systems. The origins of mitochondrial cytopathies are mutations in genes of nuclear DNA encoding mitochondrial proteins or in mitochondrial DNA. Nowadays, numerous mtDNA mutations significant to the appearance and progress of pathologies in humans are detected. In this mini-review, we accent on the mitochondrial cytopathies related to mutations of mtDNA. As well known, there are definite set of symptoms of mitochondrial cytopathies distinguishing or similar for different syndromes. The present article contains data about mutations linked with cytopathies that facilitate diagnosis of different syndromes by using genetic analysis methods. In addition, for every individual, more effective therapeutic approach could be developed after wide-range mutant background analysis of mitochondrial genome.

Keywords: mitochondrial cytopathy; mitochondrial dysfunction; mitochondrial gene mutation; mtDNA mutation

Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.

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