Cited by 3,060Mitochondrial Function and PathologyMetabolism and Genetic DisordersAutophagy in Disease and Therapy

Mitochondrial diseases in man and mouse

Wallace, Douglas C.·1999·Science

Abstract

Over the past 10 years, mitochondrial defects have been implicated in a wide variety of degenerative diseases, aging, and cancer. Studies on patients with these diseases have revealed much about the complexities of mitochondrial genetics, which involves an interplay between mutations in the mitochondrial and nuclear genomes. However, the pathophysiology of mitochondrial diseases has remained perplexing. The essential role of mitochondrial oxidative phosphorylation in cellular energy production, the generation of reactive oxygen species, and the initiation of apoptosis has suggested a number of novel mechanisms for mitochondrial pathology. The importance and interrelationship of these functions are now being studied in mouse models of mitochondrial disease.

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Crossref · 10.1126/science.283.5407.1482

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  • mtDNA point mutations and deletions can disrupt mitochondrial function if the percentage of mutant mtDNA per cell reaches a threshold where not enough functional mitochondria remain to maintain proper energetic function.

    “Additionally, mtDNA point mutations and deletions can disrupt mitochondrial function if the percentage of mutant mtDNA per cell reaches a threshold where not enough functional mitochondria remain to maintain proper energetic function (Wallace, 1999).”

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Authors
Wallace, D. C.
Affiliations
Emory University (US)
Corresponding author
Wallace, Douglas C.
Venue
Science
Published
1999-03-05
Volume
283
Issue
5407
Pages
1482-1488
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W2044494908
Cited by
3,060
References
88
Citations by year
2026: 45 · 2025: 57 · 2024: 60 · 2023: 52 · 2022: 61 · 2021: 82 · 2020: 59 · 2019: 76 · 2018: 71 · 2017: 82 · 2016: 93 · 2015: 106 · 2014: 116 · 2013: 123 · 2012: 148
FWCI
12.30
Type
journal article
Language
en
Open access
closed
Locations
  • Science (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (5r01hl045572-08)
  • National Institute on Aging (AG-13154, R01AG013154)
  • National Heart, Lung, and Blood Institute (HL45572)
  • National Institute of Neurological Disorders and Stroke (NS-21328, R01NS021328)
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
  • Health Sciences › Medicine › Epidemiology › Autophagy in Disease and Therapy
Keywords
mitochondrial disease, mitochondrial DNA mutations, oxidative phosphorylation, reactive oxygen species, apoptosis, degenerative diseases, aging, cancer, mitochondrial genetics
MeSH terms
Aging, Animals, DNA, Mitochondrial, Humans, Metabolic Diseases, Mitochondria, Mutation, Neoplasms, Oxidative Phosphorylation, Mitochondrial Myopathies, Mice

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