Evidence map›Paper›PMID 30963028›Full record

ArticleMolecular genetics and metabolism reports2019

Identification of an iron-responsive subtype in two children diagnosed with relapsing-remitting multiple sclerosis using whole exome sequencing.

Susan J van Rensburg, Armand V Peeters, Ronald van Toorn, Johan Schoeman, Kelebogile E Moremi, Carel J van Heerden, Maritha J Kotze

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

Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
0.9field-weighted citation impact, top 25% 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

12 citing papers in PubMed, 16 citations in OpenAlex.

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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 3 institutions in 1 country.

Susan J van RensburgDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Armand V PeetersDivision of Anatomical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Ronald van ToornPaediatric Medicine and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Johan SchoemanPaediatric Medicine and Child Health, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Kelebogile E MoremiDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
Carel J van HeerdenCentral Analytical Facility (CAF), DNA Sequencing Unit, Stellenbosch University, Stellenbosch, South Africa.
Maritha J KotzeDivision of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, National Health Laboratory Service (NHLS), Cape Town, South Africa.
Stellenbosch University · ZAWestern Cape Department of Health · ZANational Health Laboratory Service · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMultiple sclerosis is a disorder related to demyelination of axons. Iron is an essential cofactor in myelin synthesis. Previously, we described two children (males of mixed ancestry) with relapsing-remitting multiple sclerosis (RRMS) where long-term remission was achieved by regular iron supplementation. A genetic defect in iron metabolism was postulated, suggesting that more advanced genetic studies could shed new light on disease pathophysiology related to iron.

methodsWhole exome sequencing (WES) was performed to identify causal pathways. Blood tests were performed over a 10 year period to monitor the long-term effect of a supplementation regimen. Clinical wellbeing was assessed quarterly by a pediatric neurologist and regular feedback was obtained from the schoolteachers.

resultsWES revealed gene variants involved in iron absorption and transport, in the transmembrane protease, serine 6 (

conclusionOur findings highlight the potential value of WES to identify heritable risk factors that could affect the reabsorption of transferrin-bound iron in the kidneys causing sustained iron loss, together with inhibition of vitamin B12 absorption and vitamin D reabsorption (

Indexed as

CNS, central nervous systemCoQ, Coenzyme QDFO, desferroxamine mesylateDIS, dissemination in spaceDIT, dissemination in timeDMT, disease modifying therapyEDSS, Expanded Disability Status ScaleETC, electron transport chainGenetic variantsGWAS, genome-wide association studyHDL, high density lipoproteinHERV-W, human endogenous retrovirus WHLA, human leukocyte antigenHREC, human research ethics committeeIPMSSG, International Pediatric Multiple Sclerosis Study GroupIRE, iron-response elementIron deficiencyMGA1, juvenile hereditary megaloblastic anemia 1MitochondriaMRI, magnetic resonance imagingMS, Multiple sclerosisMSRV, MS-associated retrovirusMST1R, macrophage stimulating-1 receptorOxidative stressPediatric onset multiple sclerosisPSGT, pathology supported genetic testingROS, reactive oxygen speciesRRMS, relapsing-remitting MSSAMe, S-adenosyl methionineSDHB, iron-protein subunit of Complex IITF, transferrinTMPRSS6, transmembrane protease, serine 6WES, whole exome sequencingWhole exome sequencing

Identifiers

PMID30963028
PMCPMC6434495
OpenAlexW2934085936

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.