Evidence map›Paper›PMID 38844616›Full record

ArticleInternational journal of legal medicine2024

Coenzyme Q deficiency may predispose to sudden unexplained death via an increased risk of cardiac arrhythmia.

Shouyu Wang, Cordula Haas, Zhimin Wang, Jianghua Du, Zijie Lin, Guanghui Hong, Liliang Li, Ruiyang Tao, Yiwen Shen, Jacqueline Neubauer

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of legal medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–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

1 citing paper in PubMed.

  1. Review
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

10 authors.

Shouyu WangDepartment of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.ORCID http://orcid.org/0000-0002-6082-2028
Cordula HaasZurich Institute of Forensic Medicine, University of Zurich, Zurich, 8057, Switzerland.ORCID http://orcid.org/0000-0001-8122-1427
Zhimin WangDepartment of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Jianghua DuDepartment of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Zijie LinDepartment of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Guanghui HongDepartment of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.
Liliang LiDepartment of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China.ORCID http://orcid.org/0000-0002-1933-134X
Ruiyang TaoShanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Sciences, Ministry of Justice, Shanghai, 200063, China. taoruiyang163@163.com.ORCID http://orcid.org/0000-0002-7580-2062
Yiwen ShenDepartment of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China. shenyiwen@fudan.edu.cn.ORCID http://orcid.org/0000-0002-4441-3048
Jacqueline NeubauerZurich Institute of Forensic Medicine, University of Zurich, Zurich, 8057, Switzerland. jacqueline.neubauer@irm.uzh.ch.ORCID http://orcid.org/0000-0002-9472-7803

Funding

Emma Louise Kessler Foundation Emma Louise Kessler FoundationNational Natural Science Foundation of China 82101971National Postdoctoral Science Foundation of China 2021M700815Swiss National Science Foundation 320030_149456
6 · The paper itself

Abstract

Cardiac arrhythmia is currently considered to be the direct cause of death in a majority of sudden unexplained death (SUD) cases, yet the genetic predisposition and corresponding endophenotypes contributing to SUD remain incompletely understood. In this study, we aimed to investigate the involvement of Coenzyme Q (CoQ) deficiency in SUD. First, we re-analyzed the exome sequencing data of 45 SUD and 151 sudden infant death syndrome (SIDS) cases from our previous studies, focusing on previously overlooked genetic variants in 44 human CoQ deficiency-related genes. A considerable proportion of the SUD (38%) and SIDS (37%) cases were found to harbor rare variants with likely functional effects. Subsequent burden testing, including all rare exonic and untranslated region variants identified in our case cohorts, further confirmed the existence of significant genetic burden. Based on the genetic findings, the influence of CoQ deficiency on electrophysiological and morphological properties was further examined in a mouse model. A significantly prolonged PR interval and an increased occurrence of atrioventricular block were observed in the 4-nitrobenzoate induced CoQ deficiency mouse group, suggesting that CoQ deficiency may predispose individuals to sudden death through an increased risk of cardiac arrhythmia. Overall, our findings suggest that CoQ deficiency-related genes should also be considered in the molecular autopsy of SUD.

Indexed as

Arrhythmias, CardiacSudden Infant DeathUbiquinoneAnimalsAtaxiaAtrioventricular BlockDeath, SuddenDisease Models, AnimalElectrocardiographyExome SequencingFemaleGenetic Predisposition to DiseaseHumansInfantMaleMetabolism, Inborn ErrorsUbiquinoneCardiac arrhythmiaCoenzyme Q deficiencyGenetic burdenPostmortem molecular autopsySudden unexplained death

Identifiers

PMID38844616
PMCPMC11490525

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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.