Evidence map›Paper›PMID 37874476›Full record

ArticleFrontiers of medicine2024

Association of TRMT2B gene variants with juvenile amyotrophic lateral sclerosis.

Yanling Liu, Xi He, Yanchun Yuan, Bin Li, Zhen Liu, Wanzhen Li, Kaixuan Li, Shuo Tan, Quan Zhu, Zhengyan Tang and 8 more

Abstract read
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In one paragraph

Article in Frontiers of medicine, 2024. 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
1.0field-weighted citation impact, top 22% 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.

  1. Article
  2. Review
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  4. 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

18 authors at 3 institutions in 3 countries.

Yanling Liu *Department of Neurology, Xiangya Hospital, Central South University, Jiangxi, National Regional Center for Neurological Diseases, Nanchang, 330038, China.
Xi He *Department of Orthopedics, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310002, China.
Yanchun YuanDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Bin LiDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Zhen LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Wanzhen LiDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Kaixuan LiProvincial Laboratory for Diagnosis and Treatment of Genitourinary System Disease, Department of Urology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Shuo TanProvincial Laboratory for Diagnosis and Treatment of Genitourinary System Disease, Department of Urology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Quan ZhuProvincial Laboratory for Diagnosis and Treatment of Genitourinary System Disease, Department of Urology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Zhengyan TangProvincial Laboratory for Diagnosis and Treatment of Genitourinary System Disease, Department of Urology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Feng HanProvincial Laboratory for Diagnosis and Treatment of Genitourinary System Disease, Department of Urology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Ziqiang WuProvincial Laboratory for Diagnosis and Treatment of Genitourinary System Disease, Department of Urology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Lu ShenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Hong JiangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, 410078, China.
Jian QiuNational Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, 410008, China.
Zhengmao HuCenter for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410008, China. huzhengmao@sklmg.edu.cn.
Junling WangDepartment of Neurology, Xiangya Hospital, Central South University, Jiangxi, National Regional Center for Neurological Diseases, Nanchang, 330038, China. junling.wang@csu.edu.cn.
Central South University · CNXiangya Hospital Central South University · CNFirst Affiliated Hospital Zhejiang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive degeneration of motor neurons, and it demonstrates high clinical heterogeneity and complex genetic architecture. A variation within TRMT2B (c.1356G>T; p.K452N) was identified to be associated with ALS in a family comprising two patients with juvenile ALS (JALS). Two missense variations and one splicing variation were identified in 10 patients with ALS in a cohort with 910 patients with ALS, and three more variants were identified in a public ALS database including 3317 patients with ALS. A decreased number of mitochondria, swollen mitochondria, lower expression of ND1, decreased mitochondrial complex I activities, lower mitochondrial aerobic respiration, and a high level of ROS were observed functionally in patient-originated lymphoblastoid cell lines and TRMT2B interfering HEK293 cells. Further, TRMT2B variations overexpression cells also displayed decreased ND1. In conclusion, a novel JALS-associated gene called TRMT2B was identified, thus broadening the clinical and genetic spectrum of ALS.

Indexed as

Amyotrophic Lateral SclerosisNeurodegenerative DiseasesHEK293 CellsHumansamyotrophic lateral sclerosismitochondrial complex Ireactive oxygen speciesTRMT2BtRNA methylation

Identifiers

PMID37874476
OpenAlexW4387893312

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.