Evidence map›Paper›PMID 36778651›Full record

ArticleComplex psychiatry2023

Large Common Mitochondrial DNA Deletions Are Associated with a Mitochondrial SNP T14798C Near the 3' Breakpoints.

Brooke E Hjelm, Christian Ramiro, Brandi L Rollins, Audrey A Omidsalar, Daniel S Gerke, Sujan C Das, Adolfo Sequeira, Ling Morgan, Alan F Schatzberg, Jack D Barchas and 6 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Complex psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 44% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 5 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 6 institutions in 1 country.

Brooke E HjelmDepartment of Translational Genomics, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Christian RamiroFunctional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, California, USA.
Brandi L RollinsFunctional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, California, USA.
Audrey A OmidsalarDepartment of Translational Genomics, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Daniel S GerkeDepartment of Translational Genomics, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Sujan C DasFunctional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, California, USA.
Adolfo SequeiraFunctional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, California, USA.
Ling MorganFunctional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, California, USA.
Alan F SchatzbergDepartment of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
Jack D BarchasDepartment of Psychiatry, Weill Cornell Medical College, Ithaca, New York, USA.
Francis S LeeDepartment of Psychiatry, Weill Cornell Medical College, Ithaca, New York, USA.
Richard M MyersHudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Stanley J WatsonThe Michigan Neuroscience Institute (MNI), University of Michigan, Ann Arbor, Michigan, USA.
Huda AkilThe Michigan Neuroscience Institute (MNI), University of Michigan, Ann Arbor, Michigan, USA.
William E BunneyDepartment of Psychiatry and Human Behavior, University of California, Irvine, California, USA.
Marquis P VawterFunctional Genomics Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, California, USA.
University of California, Irvine · USUniversity of Southern California · USCornell University · USUniversity of Michigan · USHudsonAlpha Institute for Biotechnology · USStanford University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Large somatic deletions of mitochondrial DNA (mtDNA) accumulate with aging in metabolically active tissues such as the brain. We have cataloged the breakpoints and frequencies of large mtDNA deletions in the human brain. Methods: We quantified 112 high-frequency mtDNA somatic deletions across four human brain regions with the Splice-Break2 pipeline. In addition, we utilized PLINK/Seq to test the association of mitochondrial genotypes with the abundance of these high-frequency mtDNA deletions. A conservative Results: One mtDNA SNP (T14798C) was significantly associated with mtDNA deletions in two brain regions, the dorsolateral prefrontal cortex (DLPFC) and the superior temporal gyrus. Since the DLPFC showed the most robust association between T14798C and two deletion breakpoints (7816-14807 and 5462-14807), this association was tested in the DLPFC of a replication sample and validated the first results. Incorporating the C allele at 14,798 bp increased the perfect/imperfect length of the repeat at the 3' breakpoint of the two associated deletions. Conclusion: This is the first study to identify the association of mtDNA SNP with large mtDNA deletions in the human brain. The T14798C allele located in the

Indexed as

Dorsolateral prefrontal cortexMitochondrial DNA somatic deletionPrimary visual cortexSuperior temporal gyrus

Identifiers

PMID36778651
PMCPMC9909249
OpenAlexW4308988926

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.