Evidence map›Paper›PMID 35174662›Full record

ArticleMolecular genetics & genomic medicine2022

MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.

Xiaoyan Hao, Chong Li, Yunguo Lv, Tongtong Zhou, Hao Tian, Yaru Ma, Jiangwei Ding, Xinxiao Li, Yangyang Wang, Lei Wang and 1 more

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

Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 59% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
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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

11 authors at 3 institutions in 1 country.

Xiaoyan HaoDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, China.
Chong LiDepartment of Neurology, Ningxia Medical University, Yinchuan, China.
Yunguo LvDepartment of Neurology, Ningxia Medical University, Yinchuan, China.
Tongtong ZhouDepartment of Neurology, Ningxia Medical University, Yinchuan, China.
Hao TianDepartment of Neurology, Ningxia Medical University, Yinchuan, China.
Yaru MaDepartment of Neurology, Ningxia Medical University, Yinchuan, China.
Jiangwei DingNingxia Key Laboratory of Cerebrocranial Disease, The Incubation Base of National Key Laboratory, Yinchuan, China.
Xinxiao LiDepartment of Neurosurgery, Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Yangyang WangNingxia Key Laboratory of Cerebrocranial Disease, The Incubation Base of National Key Laboratory, Yinchuan, China.
Lei WangNingxia Key Laboratory of Cerebrocranial Disease, The Incubation Base of National Key Laboratory, Yinchuan, China.
Ping YangDepartment of Neurology, General Hospital of Ningxia Medical University, Yinchuan, China.ORCID 0000-0003-1689-6588
Ningxia Medical University · CNNingxia University · CNFifth Affiliated Hospital of Zhengzhou University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCharcot-Marie-Tooth disease (CMT) is a hereditary monogenic peripheral nerve disease. Variants in the gene encoding myelin protein zero (MPZ) lead to CMT, and different variants have different clinical phenotypes. A variant site, namely, c.389A > G (p.Lys130Arg), in the MPZ gene has been found in Chinese people. The pathogenicity of this variant has been clarified through pedigrees, and peripheral blood-related functional studies have been conducted.

methodWhole-exome sequencing and Sanger sequencing were used to detect the c.389A > G (p.Lys130Arg) variant in the MPZ gene in family members of the proband. Physical examination was performed in the case group to assess the clinical characteristics of MPZ site variants. The expression of MPZ and phosphorylated MPZ in the blood of 12 cases and 12 randomly selected controls was compared by RT-qPCR, Western blotting, and ELISA.

resultsThe proband and 12 of her family members presented the AG genotype with different clinical manifestations. The expression of MPZ mRNA in the case group was increased compared with that in the control group, and the levels of MPZ and phosphorylated MPZ in peripheral blood were higher than those in normal controls.

conclusionThe heterozygous genotype of the c.389A > G (p.Lys130Arg) variant in the MPZ gene mediated the increase in MPZ and phosphorylated MPZ levels in peripheral blood and was found to be involved with CMT.

Indexed as

Charcot-Marie-Tooth DiseaseMyelin P0 ProteinChinaFemaleHumansMutationPhenotypeMPZ protein, humanMyelin P0 ProteinCharcot-Marie-tooth diseasegeneticMPZphosphorylationvariant

Identifiers

PMID35174662
PMCPMC9000946
OpenAlexW4213307830

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.