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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

2018-01Journal article Open access
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dc.contributor.authorPol, A
dc.contributor.authorRenkema, GH
dc.contributor.authorTangerman, A
dc.contributor.authorWinkel, EG
dc.contributor.authorEngelke, UF
dc.contributor.authorde Brouwer, AM
dc.contributor.authorLloyd, KC
dc.contributor.authorAraiza, RS
dc.contributor.authorvan den Heuvel, L
dc.contributor.authorOmran, H
dc.contributor.authorOlbrich, H
dc.contributor.authorOude Elberink, M
dc.contributor.authorGilissen, C
dc.contributor.authorRodenburg, R
dc.contributor.authorSass, JO
dc.contributor.authorSchwab, KO
dc.contributor.authorSchäfer, H
dc.contributor.authorVenselaar, H
dc.contributor.authorSequeira, JS
dc.contributor.authorOp den Camp, HM
dc.contributor.authorWevers, RA
dc.date.accessioned2018-08-29T10:24:24Z
dc.date.available2018-08-29T10:24:24Z
dc.date.issued2018-01
dc.description.abstractSelenium-binding protein 1 (SELENBP1) has been associated with several cancers, although its exact role is unknown. We show that SELENBP1 is a methanethiol oxidase (MTO), related to the MTO in methylotrophic bacteria, that converts methanethiol to H2O2, formaldehyde, and H2S, an activity not previously known to exist in humans. We identified mutations in SELENBP1 in five patients with cabbage-like breath odor. The malodor was attributable to high levels of methanethiol and dimethylsulfide, the main odorous compounds in their breath. Elevated urinary excretion of dimethylsulfoxide was associated with MTO deficiency. Patient fibroblasts had low SELENBP1 protein levels and were deficient in MTO enzymatic activity; these effects were reversed by lentivirus-mediated expression of wild-type SELENBP1. Selenbp1-knockout mice showed biochemical characteristics similar to those in humans. Our data reveal a potentially frequent inborn error of metabolism that results from MTO deficiency and leads to a malodor syndrome.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNat Genet. 2018 Jan;50(1):120-129pt_PT
dc.identifier.doi10.1038/s41588-017-0006-7pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3051
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Grouppt_PT
dc.subjectExtra-Oral Halitosispt_PT
dc.subjectDimethylsulfoxidept_PT
dc.subjectMethanethiolpt_PT
dc.subjectMethanethiol Oxidasept_PT
dc.subjectInborn Error of Metabolismpt_PT
dc.subjectHydrogen Sulfidept_PT
dc.subjectVolatile Organic Compoundspt_PT
dc.subjectGasotransmitterpt_PT
dc.subjectErythrocytespt_PT
dc.subjectHDE MTBpt_PT
dc.titleMutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosispt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage129pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage120pt_PT
oaire.citation.volume50pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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