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Mitochondrial genetics

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Chinnery, P. F., Hudson, G.·2013·British Medical Bulletin
DOI 10.1093/bmb/ldt017PMC PMC3675899
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Abstract

INTRODUCTION: In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. SOURCES OF DATA: In this article, a review of the current mitochondrial genetics literature was conducted using PubMed (http://www.ncbi.nlm.nih.gov/pubmed/). In addition, this review makes use of a growing number of publically available databases including MITOMAP, a human mitochondrial genome database (www.mitomap.org), the Human DNA polymerase Gamma Mutation Database (http://tools.niehs.nih.gov/polg/) and PhyloTree.org (www.phylotree.org), a repository of global mtDNA variation. AREAS OF AGREEMENT: The disruption in cellular energy, resulting from defects in mtDNA or defects in the nuclear-encoded genes responsible for mitochondrial maintenance, manifests in a growing number of human diseases. AREAS OF CONTROVERSY: The exact mechanisms which govern the inheritance of mtDNA are hotly debated. GROWING POINTS: Although still in the early stages, the development of in vitro genetic manipulation could see an end to the inheritance of the most severe mtDNA disease.

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  • MtRNR1 is mitochondrial noncoding 12S ribosomal RNA.

    “MtRNR1 is mitochondrial noncoding 12S ribosomal RNA (rRNA) [18].”

    From Untranslated Region Sequences and the Efficacy of mRNA Vaccines against Tuberculosis (2024) · cites this paper as [18]

    The mtDNA > Structure section identifies 12S rRNA as a mitochondrial gene product that is RNA rather than a protein. The Transcription and translation section names MTRNR1 as one of the mtDNA genes contributing to mitoribosomes, but our copy does not explicitly identify MTRNR1 as the 12S rRNA gene. (LLM, conf=0.78)

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Cited by

Sorted by citations

Authors
Chinnery, P. F., & Hudson, G.
Affiliations
Centre for Life (GB)
Corresponding author
Hudson, G.
ORCID
Venue
British Medical Bulletin
Publisher
Oxford University Press (OUP)
Published
2013-05-22
Volume
106
Issue
1
Pages
135-159
ISSN
  • 0007-1420 (ISSN-L)
  • 1471-8391
DOI
10.1093/bmb/ldt017
PMC
PMC3675899
OpenAlex
W4210652211
Cited by
395
References
8
Citations by year
2026: 34 · 2025: 26 · 2024: 43 · 2023: 47 · 2022: 20 · 2021: 39 · 2020: 46 · 2019: 30 · 2018: 30 · 2017: 21 · 2016: 17 · 2015: 19 · 2014: 17 · 2013: 6
FWCI
1.85
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • British Medical Bulletin (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Newcastle University ePrints (Newcastle Univesity) (cc-by)
Funders
  • Wellcome Trust (096919, 101876/B/13/Z, 101876)
  • National Institute for Health and Care Research (NF-SI-0509-10011)
  • Parkinson's UK (F-1202)
  • Medical Research Council (MR/K000608/1)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Keywords
mitochondrial DNA, mitochondrial disease, mtDNA variation, mitochondrial genome, cellular energy metabolism
MeSH terms
DNA, Mitochondrial, Humans, Mitochondria, Mutation, Mitochondrial Diseases, Databases, Nucleic Acid

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