Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer's disease brain
Klein HU, Trumpff C, Yang HS, Lee AJ, Picard M, Bennett DA, De Jager PL.. Molecular neurodegeneration, 2021-11-06
Topic: Amyloid, tau and blood-test diagnosis
Changes in the mitochondrial DNA copy number (mtDNAcn) and increased mitochondrial DNA mutation burden have both been associated with neurodegenerative diseases and cognitive decline. This study aims to systematically identify which common brain pathologies in the aged human brain are associated with mitochondrial recalibrations and to disentangle the relationship between these pathologies, mtDNAcn, mtDNA heteroplasmy, aging, neuronal loss, and cognitive function. Annual cognitive test results were used to assess cognitive function proximal to death. Results mtDNAcn was 7-14% lower in AD relative to control participants. When accounting for all 10 common neuropathologies, only tau was significantly associated with lower mtDNAcn in the dorsolateral prefrontal cortex. In the posterior cingulate cortex, TDP-43 pathology demonstrated a distinct association with mtDNAcn. Neither age nor gender was associated with mtDNAcn in the studied brain regions when adjusting for pathologies. Conclusions We studied mtDNA quantity and quality in relation to mixed pathologies of aging and showed that tau and not amyloid-β is primarily associated with reduced mtDNAcn. While we found low mtDNAcn in brain regions affected by pathologies, the absence of associations with mtDNA heteroplasmy burden indicates that mtDNA point mutations and small indels are unlikely to be involved in the pathogenesis of late-onset neurodegenerative diseases.
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APA 7th
Klein, H. U., Trumpff, C., Yang, H. S., Lee, A. J., Picard, M., Bennett, D. A., et al. (2021). Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer's disease brain. Molecular neurodegeneration. https://doi.org/10.1186/s13024-021-00495-8
Vancouver
Klein HU, Trumpff C, Yang HS, Lee AJ, Picard M, Bennett DA, et al. Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer's disease brain. Molecular neurodegeneration. 2021. doi:10.1186/s13024-021-00495-8. PMID: 34742335.
BibTeX
@article{klein2021-34742335,
author = {Klein, H. U. and Trumpff, C. and Yang, H. S. and Lee, A. J. and Picard, M. and Bennett, D. A. and De Jager, P. L.},
title = {{Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer's disease brain}},
journal = {Molecular neurodegeneration},
year = {2021},
doi = {10.1186/s13024-021-00495-8},
pmid = {34742335},
url = {https://doi.org/10.1186/s13024-021-00495-8}
}
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Key findings
- Changes in the mitochondrial DNA copy number (mtDNAcn) and increased mitochondrial DNA mutation burden have both been associated with neurodegenerative diseases and cognitive decline.
- This study aims to systematically identify which common brain pathologies in the aged human brain are associated with mitochondrial recalibrations and to disentangle the relationship between these pathologies, mtDNAcn, mtDNA heteroplasmy, aging, neuronal loss, and cognitive function.
- Annual cognitive test results were used to assess cognitive function proximal to death.
- Results mtDNAcn was 7-14% lower in AD relative to control participants.
- When accounting for all 10 common neuropathologies, only tau was significantly associated with lower mtDNAcn in the dorsolateral prefrontal cortex.
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Study details
- Participants1,361
- Effect sizeincreased by 1.5%
- Evidence strengthLow
How this study scored 57/100
Published in a peer-reviewed journal. Scored zero for study design and randomised / blinded because the record does not state it. We have no data on journal's citation record, times cited, citations per year, impact for its field and year, cited by studies here, still being cited, senior author's track record, institution's track record and multi-centre collaboration, so those were left out: it earned 33 of the 58 points we could judge it on, which is 57 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Molecular neurodegeneration) |
| Journal's citation record | — / 4 | No journal record from OpenAlex — left out of this score |
| Study design | 0 / 12 | No study design recorded — scores zero, not guessed (not stated in the record — scored 0) |
| Strength of evidence | 1 / 5 | Rated “low” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 3 / 5 | 2021 — within 6 year(s) of the newest study here |
| Sample size | 3 / 4 | 1,361 participants |
| Effect reported | 2 / 3 | Effect reported as a number, without an interval or test |
| Studied in people | 3 / 3 | Studied in people (participant count stated) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | — / 7 | No citation count (not found in OpenAlex) — left out of this score |
| Citations per year | — / 5 | No citation count or no year — left out of this score |
| Impact for its field and year | — / 6 | No field-weighted citation impact (OpenAlex has none yet) — left out of this score |
| Cited by studies here | — / 6 | Not yet checked against this library's citation graph — left out of this score |
| Still being cited | — / 4 | No yearly citation counts — left out of this score |
| Senior author's track record | — / 4 | Senior author's record not available — left out of this score |
| Institution's track record | — / 3 | No institution listed in OpenAlex — left out of this score |
| Multi-centre collaboration | — / 3 | Institutions not listed — left out of this score |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 34742335) |
| Free to read | 2 / 2 | Free to read |
| Points | 33 / 58 | Scored on 11 of 20 parts. We have no data for the rest, so they are left out: 33 of the 58 points we could judge it on is 57 out of 100. |
| Total | 57 / 100 | — |
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