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Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC et al.. Genomics, 1993-07-01
Topic: Amyloid, tau and blood-test diagnosis
Mitochondrial DNA (mtDNA) variants associated with Alzheimer disease (AD) and Parkinson disease (PD) were sought by restriction endonuclease analysis in a cohort of 71 late-onset Caucasian patients. A tRNA(Gln) gene variant at nucleotide pair (np) 4336 that altered a moderately conserved nucleotide was present in 9/173 (5.2%) of the patients surveyed but in only 0.7% of the general Caucasian controls. One of these patients harbored an additional novel 12S rRNA 5-nucleotide insertion at np 956-965, while a second had a missense variant at np 3397 that converted a highly conserved methionine to a valine.
Cite this study APA, Vancouver, BibTeX · download .bib or .ris
APA 7th
Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T., Cabell, M. F., Mirra, S. S., et al. (1993). Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics. https://doi.org/10.1006/geno.1993.1299
Vancouver
Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, et al. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics. 1993. doi:10.1006/geno.1993.1299. PMID: 8104867.
BibTeX
@article{shoffner1993-8104867,
author = {Shoffner, J. M. and Brown, M. D. and Torroni, A. and Lott, M. T. and Cabell, M. F. and Mirra, S. S. and Beal, M. F. and Yang, C. C. and others},
title = {{Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients}},
journal = {Genomics},
year = {1993},
doi = {10.1006/geno.1993.1299},
pmid = {8104867},
url = {https://doi.org/10.1006/geno.1993.1299}
}
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Key findings
- A tRNA(Gln) gene variant at nucleotide pair (np) 4336 that altered a moderately conserved nucleotide was present in 9/173 (5.2%) of the patients surveyed but in only 0.7% of the general Caucasian controls.
- One of these patients harbored an additional novel 12S rRNA 5-nucleotide insertion at np 956-965, while a second had a missense variant at np 3397 that converted a highly conserved methionine to a valine.
- This latter mutation was also found in an independent AD + PD patient, as was a heteroplasmic 16S rRNA variant at np 3196.
- Additional studies will be required to determine the significance, if any, of these mutations.
Why it matters
This study looked for mitochondrial DNA variants in 71 late-onset Caucasian patients and found a tRNA(Gln) variant at nucleotide pair 4336 in 5.2% of patients versus 0.7% of controls, plus other variants in individual patients. It reports genetic associations only and does not test any treatment, cure, or prevention.
Study details
- Effect size5.2%; 0.7%
- Evidence strengthModerate
How this study scored 50/100
Published in a peer-reviewed journal. Scored zero for study design, sample size, 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 48 of the 96 points we could judge it on, which is 50 out of 100.
| Component | Points | Why |
|---|---|---|
| Journal tier | 7 / 10 | Tier 3 — peer-reviewed journal (Genomics) |
| Journal's citation record | 2 / 4 | Genomics: journal h-index 216 (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 | 3 / 5 | Rated “moderate” in our summary |
| Peer-review validation | 10 / 10 | Peer-reviewed. Published as an article in a named peer-reviewed journal. |
| How recent | 1 / 5 | 1993 — 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 | 2 / 3 | Effect reported as a number, without an interval or test |
| 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 450 times (OpenAlex, 2026-10-10) |
| Citations per year | 3 / 5 | 12.9 citations a year over 35 year(s) since 1993 |
| Impact for its field and year | 4 / 6 | Cited 8.2× the average for papers of its field and year (OpenAlex FWCI) |
| Cited by studies here | 2 / 6 | Cited by 3 other studies in this library |
| Still being cited | 1 / 4 | Cited 6 times in 2024–2026 (2026 still in progress; OpenAlex) |
| Senior author's track record | — / 4 | OpenAlex's profile for last-listed author Douglas C. Wallace holds only 9 work(s), too few to judge a track record — left out of this score |
| Institution's track record | 3 / 3 | Harvard University: institution h-index 3,235 (OpenAlex) |
| Multi-centre collaboration | 2 / 3 | OpenAlex lists 7 institution(s) in 1 country |
| Indexed in PubMed | 2 / 2 | Indexed in PubMed (PMID 8104867) |
| Free to read | 0 / 2 | Behind a paywall — scores zero |
| Points | 48 / 96 | Scored on 19 of 20 parts. We have no data for the rest, so they are left out: 48 of the 96 points we could judge it on is 50 out of 100. |
| Total | 50 / 100 | — |
What each of these 20 components measures, and what this score is not →
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