Evidence map›Paper›PMID 30349272›Full record

ReviewTherapeutics and clinical risk management2018

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

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

Open access · goldAbstract readReview
In one paragraph

Review in Therapeutics and clinical risk management, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

37 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.

  1. Pooled it
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  4. Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.Diabetic medicine : a journal of the British Diabetic Association · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 5 institutions in 1 country.

Anastasia I RyzhkovaLaboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow, Russian Federation, ryzhkovaai@gmail.com.
Margarita A SazonovaLaboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow, Russian Federation, ryzhkovaai@gmail.com.
Vasily V SinyovLaboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow, Russian Federation, ryzhkovaai@gmail.com.
Elena V GalitsynaDepartment of Genetics, Southern Federal University, Rostov-on-Don, Russian Federation.
Mariya M ChichevaDepartment of Genetics, Southern Federal University, Rostov-on-Don, Russian Federation.
Alexandra A MelnichenkoDepartment of Genetics, Southern Federal University, Rostov-on-Don, Russian Federation.
Andrey V GrechkoFederal Research and Clinical Center of Reanimatology and Rehabilitology, Moscow, Russian Federation.
Anton Yu PostnovLaboratory of Medical Genetics, National Medical Research Center of Cardiology, Moscow, Russian Federation, ryzhkovaai@gmail.com.
Alexander N OrekhovLaboratory of Angiopathology, Institute of General Pathology and Pathophysiology, Moscow, Russian Federation.
Tatiana P ShkuratDepartment of Genetics, Southern Federal University, Rostov-on-Don, Russian Federation.
Southern Federal University · RUNational Medical Research Center of Cardiology · RUResearch Institute of General Pathology and Pathophysiology, the Russian Academy of Medical Sciences · RUMoscow State Academy of Veterinary Medicine and Biotechnology named after Skryabin · RUV.A. Negovsky Scientific Research Institute of General Reanimatology · RU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

mitochondrial cytopathymitochondrial dysfunctionmitochondrial gene mutationmtDNA mutation

Identifiers

PMID30349272
PMCPMC6186303
OpenAlexW2895267799

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.