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

  • Selenium-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.

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Metadaten
Document Type:Article
Language:English
Author:Arjan Pol, G. Herma Renkema, Albert Tangerman, Edwin G. Winkel, Udo F. Engelke, Arjan P. M. de Brouwer, Kent C. Lloyd, Renee S. Araiza, Lambert van den Heuvel, Heymut Omran, Heike Olbrich, Marijn Oude Elberink, Christian Gilissen, Richard J. Rodenburg, Jörn Oliver Sass, K. Otfried Schwab, Hendrik Schäfer, Hanka Venselaar, J. Silvia Sequeira, Huub J. M. Op den Camp, Ron A. Wevers
Parent Title (English):Nat Genet. (Nature Genetics)
Volume:50
Issue:1
First Page:120
Last Page:129
ISSN:1061-4036
URL:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742538/
DOI:https://doi.org/10.1038/s41588-017-0006-7
Pubmed Id:http://www.ncbi.nlm.nih.gov/pubmed?term=29255262
Publisher:Nature Publishing Group
Date of first publication:2017/12/18
Departments, institutes and facilities:Fachbereich Angewandte Naturwissenschaften
Institut für funktionale Gen-Analytik (IfGA)
Entry in this database:2018/01/06