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Mitochondrial DNA sequence variation in human evolution and disease
Wallace DC.. Proceedings of the National Academy of Sciences of the United States of America, 1994-09-01
Topic: Brain proteins, microglia and lab models
Germ-line and somatic mtDNA mutations are hypothesized to act together to shape our history and our health. Germ-line mtDNA mutations, both ancient and recent, have been associated with a variety of degenerative diseases. Mildly to moderately deleterious germ-line mutations, like neutral polymorphisms, have become established in the distant past through genetic drift but now may predispose certain individuals to late-onset degenerative diseases.
Key findings
- Germ-line mtDNA mutations, both ancient and recent, have been associated with a variety of degenerative diseases.
- Mildly to moderately deleterious germ-line mutations, like neutral polymorphisms, have become established in the distant past through genetic drift but now may predispose certain individuals to late-onset degenerative diseases.
- As an example, a homoplasmic, Caucasian, tRNA(Gln) mutation at nucleotide pair (np) 4336 has been observed in 5% of Alzheimer disease and Parkinson disease patients and may contribute to the multifactorial etiology of these diseases.
- Moderately to severely deleterious germ-line mutations, on the other hand, appear repeatedly but are eliminated by selection.
Why it matters
This paper discusses how inherited and somatic mitochondrial DNA mutations may predispose people to late-onset degenerative diseases, noting a tRNA(Gln) mutation at nucleotide pair 4336 in some Alzheimer and Parkinson disease cases. It is a broad discussion of mitochondrial genetics and does not report a treatment, cure, or prevention.
Study details
- Evidence strengthLow
How this study scored 44/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, effect reported, studied in people and randomised / blinded because the record does not state it. We have no data on senior author's track record, so that was left out: it earned 42 of the 96 points we could judge it on, which is 44 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Proceedings of the National Academy of Sciences of the United States of America) |
| Journal's citation record | 4 / 4 | Proceedings of the National Academy of Sciences: journal h-index 1,167 (OpenAlex, 2026-10-29) |
| 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 | 1 / 5 | 1994 — older than 20 years, still counted |
| Sample size | 0 / 4 | Participant count not stated — scores zero (not stated in the record — scored 0) |
| Effect reported | 0 / 3 | No effect size reported — scores zero (not stated in the record — scored 0) |
| Studied in people | 0 / 3 | Not stated whether this was studied in people — scores zero (not stated in the record — scored 0) |
| Randomised / blinded | 0 / 2 | No randomisation or blinding stated — scores zero (not stated in the record — scored 0) |
| Times cited | 6 / 7 | Cited 525 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 15.4 citations a year over 34 year(s) since 1994 |
| Impact for its field and year | 4 / 6 | Cited 8.0× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 1 / 6 | Cited by 2 other studies in this library |
| Still being cited | 2 / 4 | Cited 19 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | OpenAlex's profile for last-listed author D C Wallace holds only 7 work(s), too few to judge a track record — left out of this score |
| Institution's track record | 1 / 3 | Emory University: institution h-index 1,360 (OpenAlex) |
| Multi-centre collaboration | 0 / 3 | OpenAlex lists 1 institution(s) in 1 country — scores zero (affiliation lists can be incomplete) |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 8090716) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 42 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 42 of the 96 points we could judge it on is 44 out of 100. |
| Total | 44 / 100 | — |
What each of these 20 components measures, and what this score is not →
Read the original
Full text: free to read — OpenAlex lists this copy as free to read: the link above (checked 6 Feb 1020).
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
Built from the record alzhub holds for this paper, not looked up. Volume, issue and page numbers are not held in the record. Check the citation against the original before you use it.
APA 7th
Wallace, D. C. (1994). Mitochondrial DNA sequence variation in human evolution and disease. Proceedings of the National Academy of Sciences of the United States of America. https://doi.org/10.1073/pnas.91.19.8739
Vancouver
Wallace DC. Mitochondrial DNA sequence variation in human evolution and disease. Proceedings of the National Academy of Sciences of the United States of America. 1994. doi:10.1073/pnas.91.19.8739. PMID: 8090716.
BibTeX
@article{wallace1994-8090716,
author = {Wallace, D. C.},
title = {{Mitochondrial DNA sequence variation in human evolution and disease}},
journal = {Proceedings of the National Academy of Sciences of the United States of America},
year = {1994},
doi = {10.1073/pnas.91.19.8739},
pmid = {8090716},
url = {https://doi.org/10.1073/pnas.91.19.8739}
}
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