Cited by 890Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model OrganismsParkinson's Disease Mechanisms and Treatments

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

Corral-Debrinski, Marisol, Horton, Terzah, Lott, Marie T., Shoffner, John M., Flint Beal, M., Wallace, Douglas C.·1992·Nature Genetics

Abstract

We have examined the role of somatic mitochondrial DNA (mtDNA) mutations in human ageing by quantitating the accumulation of the common 4977 nucleotide pair (np) deletion (mtDNA4977) in the cortex, putamen and cerebellum. A significant increase in the mtDNA4977 deletion was seen in elderly individuals. In the cortex, the deleted to total mtDNA ratio ranged from 0.00023 to 0.012 in 67-77 year old brains and up to 0.034 in subjects over 80. In the putamen, the deletion level ranged from 0.0016 to 0.010 in 67 to 77 years old up to 0.12 in individuals over the age of 80. The cerebellum remained relatively devoid of mtDNA deletions. Similar changes were observed with a different 7436 np deletion. These changes suggest that somatic mtDNA deletions might contribute to the neurological impairment often associated with ageing.

Integrity signals

Registry

Crossref · 10.1038/ng1292-324

Cites

44 of 44 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Age-related mtDNA changes occur within the human brain.

    “Evidence indicates age-related mtDNA changes do in fact occur within the human brain.”

    From Brain aging, Alzheimer's disease, and mitochondria (2011) · cites this paper as [115]

  • Levels of a 5-kilobase deletion that particularly affects mtDNA COX genes increase with age.

    “Levels of a 5-kilobase deletion that particularly affects mtDNA COX genes increase with age [115].”

    From Brain aging, Alzheimer's disease, and mitochondria (2011) · cites this paper as [115]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Flint Beal, M., & Wallace, D. C.
Affiliations
Emory University (US)
Venue
Nature Genetics
Published
1992-12
Volume
2
Issue
4
Pages
324-329
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W1973851166
Cited by
890
References
43
Citations by year
2026: 7 · 2025: 9 · 2024: 19 · 2023: 12 · 2022: 25 · 2021: 19 · 2020: 23 · 2019: 36 · 2018: 21 · 2017: 28 · 2016: 21 · 2015: 32 · 2014: 23 · 2013: 32 · 2012: 24
FWCI
10.05
Type
journal article
Language
en
Open access
closed
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Aging › Genetics, Aging, and Longevity in Model Organisms
  • Health Sciences › Medicine › Neurology › Parkinson's Disease Mechanisms and Treatments
Keywords
mitochondrial DNA deletions, somatic mtDNA mutations, human aging, brain aging, cerebral cortex, putamen, cerebellum, regional variation, neurological deficit
MeSH terms
Adult, Aged, Aged, 80 and over, Aging, Base Sequence, Brain, DNA Damage, DNA, Mitochondrial, Female, Humans, Male, Molecular Sequence Data, Oxidative Phosphorylation, Tissue Distribution, Sequence Deletion

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review