4.1 Review

Mitochondrial diseases caused by mtDNA mutations: a mini-review

Journal

THERAPEUTICS AND CLINICAL RISK MANAGEMENT
Volume 14, Issue -, Pages 1933-1942

Publisher

DOVE MEDICAL PRESS LTD
DOI: 10.2147/TCRM.S154863

Keywords

mitochondrial cytopathy; mitochondrial dysfunction; mtDNA mutation; mitochondrial gene mutation

Funding

  1. Russian Science Foundation [14-14-01038]
  2. Russian Science Foundation [17-14-00092] Funding Source: Russian Science Foundation

Ask authors/readers for more resources

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.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.1
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available