Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/3051
Título: Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
Autor: Pol, A
Renkema, GH
Tangerman, A
Winkel, EG
Engelke, UF
de Brouwer, AM
Lloyd, KC
Araiza, RS
van den Heuvel, L
Omran, H
Olbrich, H
Oude Elberink, M
Gilissen, C
Rodenburg, R
Sass, JO
Schwab, KO
Schäfer, H
Venselaar, H
Sequeira, JS
Op den Camp, HM
Wevers, RA
Palavras-chave: Extra-Oral Halitosis
Methanethiol Oxidase
Inborn Error of Metabolism
Hydrogen Sulfide
Volatile Organic Compounds
Data: Jan-2018
Editora: Nature Publishing Group
Citação: Nat Genet. 2018 Jan;50(1):120-129
Resumo: 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.
Peer review: yes
URI: http://hdl.handle.net/10400.17/3051
DOI: 10.1038/s41588-017-0006-7
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