Evidence map›Paper›PMID 35217778›Full record

ArticleScientific reports2022

Duchenne muscular dystrophy gene expression is an independent prognostic marker for IDH mutant low-grade glioma.

Michael Naidoo, Leanne Jones, Benjamin Conboy, Wael Hamarneh, Darwin D'Souza, Karen Anthony, Lee R Machado

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.7field-weighted citation impact, top 16% 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

10 citing papers in PubMed, 11 citations in OpenAlex.

  1. Exploring Dystrophin Expression and Mutations in theInternational journal of molecular sciences · 2026
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  8. Differential expression ofTranslational lung cancer research · 2024
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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

7 authors at 4 institutions in 3 countries.

Michael NaidooCentre for Physical Activity and Life Sciences, University of Northampton, University Drive, Northampton, NN1 5PH, UK.
Leanne JonesCentre for Physical Activity and Life Sciences, University of Northampton, University Drive, Northampton, NN1 5PH, UK.
Benjamin ConboyCentre for Physical Activity and Life Sciences, University of Northampton, University Drive, Northampton, NN1 5PH, UK.
Wael HamarnehNorthampton General Hospital NHS Trust, Northampton, NN1 5BD, UK.
Darwin D'SouzaIcahn School of Medicine at Mount Sinai, New York City, USA.
Karen AnthonyCentre for Physical Activity and Life Sciences, University of Northampton, University Drive, Northampton, NN1 5PH, UK. karen.anthony@northampton.ac.uk.
Lee R MachadoCentre for Physical Activity and Life Sciences, University of Northampton, University Drive, Northampton, NN1 5PH, UK. lee.machado@northampton.ac.uk.
University of Northampton · GBIcahn School of Medicine at Mount Sinai · USNorthampton General Hospital NHS Trust · GBUniversity of Leicester · GB

Funding

Medical Research Council MR/N004272/1
6 · The paper itself

Abstract

Alterations in the expression of the Duchenne muscular dystrophy (DMD) gene have been associated with the development, progression and survival outcomes of numerous cancers including tumours of the central nervous system. We undertook a detailed bioinformatic analysis of low-grade glioma (LGG) bulk RNAseq data to characterise the association between DMD expression and LGG survival outcomes. High DMD expression was significantly associated with poor survival in LGG with a difference in median overall survival between high and low DMD groups of over 7 years (P = < 0.0001). In a multivariate model, DMD expression remained significant (P = 0.02) and was an independent prognostic marker for LGG. The effect of DMD expression on overall survival was only apparent in isocitrate dehydrogenase (IDH) mutant cases where non-1p/19q co-deleted LGG patients could be further stratified into high/low DMD groups. Patients in the high DMD group had a median overall survival time almost halve that of the low DMD group. The expression of the individual DMD gene products Dp71, Dp71ab and Dp427m were also significantly associated with overall survival in LGG which have differential biological effects relevant to the pathogenesis of LGG. Differential gene expression and pathway analysis identifies dysregulated biological processes relating to ribosome biogenesis, synaptic signalling, neurodevelopment, morphogenesis and immune pathways. Genes spanning almost the entirety of chromosome 1p are upregulated in patients with high overall DMD, Dp71 and Dp427m expression which worsens survival outcomes for these patients. We confirmed dystrophin protein is variably expressed in LGG tumour tissue by immunohistochemistry and, overall, demonstrate that DMD expression has potential utility as an independent prognostic marker which can further stratify IDH mutant LGG to identify those at risk of poor survival. This knowledge may improve risk stratification and management of LGG.

Indexed as

Brain NeoplasmsGliomaIsocitrate DehydrogenaseMuscular Dystrophy, DuchenneBiomarkersGene ExpressionHumansMutationNeoplasm GradingPrognosisBiomarkersIsocitrate Dehydrogenase

Identifiers

PMID35217778
PMCPMC8881458
OpenAlexW4214774298

What OpenQuestion holds

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LicenceCC BY
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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.