Evidence map›Paper›PMID 32544465›Full record

ReviewMitochondrion2020

Thinking outside the nucleus: Mitochondrial DNA copy number in health and disease.

Christina A Castellani, Ryan J Longchamps, Jing Sun, Eliseo Guallar, Dan E Arking

Abstract readReview
In one paragraph

Review in Mitochondrion, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 210 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
210citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

210 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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150 more citing papers are in PubMed but not listed here.

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

5 authors.

Christina A CastellaniMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Ryan J LongchampsMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Jing SunDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, United States.
Eliseo GuallarDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, United States; The Welch Center for Prevention, Epidemiology and Clinical Research, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, United States.
Dan E ArkingMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, United States. Electronic address: arking@jhmi.edu.

Funding

Vaccine Response and Immunotherapeutics SWGP30AI094189 · NIAID · JOHNS HOPKINS UNIVERSITY · PI Richard E. Chaisson · 2012 to 2026
$67.0M
Predoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6M
Mitochondrial DNA Copy Number and Genetic Variation in Coronary Heart DiseaseR01HL131573 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI ARKING, DAN E · 2016 to 2019
$3.2M
Mitochondrial DNA heteroplasmy and risk for atherosclerotic cardiovascular disease (ASCVD)R01HL144569 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI ARKING, DAN E · 2019 to 2022
$3.1M
NHLBI NIH HHS R01 HL131573NHLBI NIH HHS R01 HL144569NIAID NIH HHS P30 AI094189NIGMS NIH HHS T32 GM007814
6 · The paper itself

Abstract

Mitochondrial DNA copy number (mtDNA-CN) is a biomarker of mitochondrial function and levels of mtDNA-CN have been reproducibly associated with overall mortality and a number of age-related diseases, including cardiovascular disease, chronic kidney disease, and cancer. Recent advancements in techniques for estimating mtDNA-CN, in particular the use of DNA microarrays and next-generation sequencing data, have led to the comprehensive assessment of mtDNA-CN across these and other diseases and traits. The importance of mtDNA-CN measures to disease and these advancing technologies suggest the potential for mtDNA-CN to be a useful biomarker in the clinic. While the exact mechanism(s) underlying the association of mtDNA-CN with disease remain to be elucidated, we review the existing literature which supports roles for inflammatory dynamics, immune function and alterations to cell signaling as consequences of variation in mtDNA-CN. We propose that future studies should focus on characterizing longitudinal, cell-type and cross-tissue profiles of mtDNA-CN as well as improving methods for measuring mtDNA-CN which will expand the potential for its use as a clinical biomarker.

Indexed as

DNA Copy Number VariationsDNA, MitochondrialGenetic Predisposition to DiseaseHumansMitochondriaMortalityDNA, MitochondrialClinical biomarkerComplex diseasemitochondrial DNAmtDNA

Identifiers

PMID32544465
PMCPMC7375936

What OpenQuestion holds

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Registered trials

None linked

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.