Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
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DOI：
10.1038/s41588-017-0006-7
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发表时间：
2018-01
期刊：
影响因子：
30.8
通讯作者：
Wevers RA
中科院分区：
文献类型：
--
作者：
Pol A;Renkema GH;Tangerman A;Winkel EG;Engelke UF;de Brouwer APM;Lloyd KC;Araiza RS;van den Heuvel L;Omran H;Olbrich H;Oude Elberink M;Gilissen C;Rodenburg RJ;Sass JO;Schwab KO;Schäfer H;Venselaar H;Sequeira JS;Op den Camp HJM;Wevers RA
硒结合蛋白1（SELENBP 1）与多种癌症有关。它的确切作用是未知的。我们发现，SELENBP 1是一种甲烷氧化物（MTO），与甲基营养菌的MTO有关，将甲烷氧化物转化为H2 O2，甲醛和H2S，这是一种未知的人类活动。在5名有卷心菜样气味的患者中发现了SELENBP 1的突变。甲烷乙烷和二甲硫醚的含量增加是他们呼吸中的主要气味化合物，也是恶臭的原因。二甲亚砜的尿排泄增加是MTO缺乏症的诊断生物标志物。患者成纤维细胞显示出减少的SELENBP 1蛋白量和缺陷的MTO酶活性，这可以通过慢病毒介导的野生型SELENBP 1基因表达来恢复。一个基因敲除小鼠品系显示出相同的生化特征。我们的数据定义了一种新的先天性代谢缺陷所造成的MTO-缺乏导致恶臭综合征。MTO缺乏可能是一种常见的先天性代谢缺陷。
Selenium binding protein1 (SELENBP1) has been associated with several cancers. Its exact role was unknown. We show that SELENBP1 is a methanethiol oxidase (MTO), related to MTO of methylotrophic bacteria, converting methanethiol to H2O2, formaldehyde and H2S, an activity not known to exist in humans. Mutations in SELENBP1 were found in five patients with a cabbage-like smelling breath. Increased levels of methanethiol and dimethylsulfide are the main odorous compounds in their breath and responsible for the malodor. Increased urinary excretion of dimethylsulfoxide is a diagnostic biomarker of MTO-deficiency. Patient fibroblasts showed reduced amounts of SELENBP1 protein and deficient MTO enzymatic activity which could be restored by lentiviral-mediated expression of the wild-type SELENBP1 gene. A knockout mouse line showed the same biochemical characteristics. Our data define a novel inborn error of metabolism caused by MTO-deficiency leading to a malodor syndrome. MTO deficiency may be a frequent inborn error of metabolism.
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影响因子：
2.8
作者：
Jerome-Morais, Anita;Wright, Margaret E.;Liu, Rui;Yang, Wancai;Jackson, Matthew I.;Combs, Gerald F., Jr.;Diamond, Alan M.
通讯作者：
Diamond, Alan M.
影响因子：
30.8
作者：
Kircher, Martin;Witten, Daniela M.;Jain, Preti;O'Roak, Brian J.;Cooper, Gregory M.;Shendure, Jay
通讯作者：
Shendure, Jay
影响因子：
5.2
作者：
Baliga, Manjeshwar S.;Diwadkar-Navsariwala, Veda;Diamond, Alan M.
通讯作者：
Diamond, Alan M.
DOI：
10.1016/0198-0149(79)90023-2
发表时间：
1979-01-01
期刊：
DEEP-SEA RESEARCH PART A-OCEANOGRAPHIC RESEARCH PAPERS
影响因子：
--
作者：
DOUABUL, AA;RILEY, JP
通讯作者：
RILEY, JP
影响因子：
3.7
作者：
Ansong E;Ying Q;Ekoue DN;Deaton R;Hall AR;Kajdacsy-Balla A;Yang W;Gann PH;Diamond AM
通讯作者：
Diamond AM