The Emerging Physiological Role of AGMO 10 Years after Its Gene Identification

被引:25
作者
Sailer, Sabrina [1 ]
Keller, Markus A. [2 ]
Werner, Ernst R. [1 ]
Watschinger, Katrin [1 ]
机构
[1] Med Univ Innsbruck, Inst Biol Chem, Bioctr, A-6020 Innsbruck, Austria
[2] Med Univ Innsbruck, Inst Human Genet, A-6020 Innsbruck, Austria
来源
LIFE-BASEL | 2021年 / 11卷 / 02期
关键词
AGMO; tetrahydrobiopterin; alkylglycerols; plasmalogens; neurodevelopment; autism; inflammation; macrophages; type; 2; diabetes; energy homeostasis; GENOME-WIDE ASSOCIATION; ETHER MONOOXYGENASE EC-1.14.16.5; COPY NUMBER VARIATIONS; ALKYLGLYCEROL MONOOXYGENASE; SUSCEPTIBILITY LOCI; MASS-SPECTROMETRY; FASTING GLUCOSE; CLEAVAGE ENZYME; GROWTH-FACTOR; TETRAHYDROBIOPTERIN;
D O I
10.3390/life11020088
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
The gene encoding alkylglycerol monooxygenase (AGMO) was assigned 10 years ago. So far, AGMO is the only known enzyme capable of catalysing the breakdown of alkylglycerols and lyso-alkylglycerophospholipids. With the knowledge of the genetic information, it was possible to relate a potential contribution for mutations in the AGMO locus to human diseases by genome-wide association studies. A possible role for AGMO was implicated by genetic analyses in a variety of human pathologies such as type 2 diabetes, neurodevelopmental disorders, cancer, and immune defence. Deficient catabolism of stored lipids carrying an alkyl bond by an absence of AGMO was shown to impact on the overall lipid composition also outside the ether lipid pool. This review focuses on the current evidence of AGMO in human diseases and summarises experimental evidence for its role in immunity, energy homeostasis, and development in humans and several model organisms. With the progress in lipidomics platform and genetic identification of enzymes involved in ether lipid metabolism such as AGMO, it is now possible to study the consequence of gene ablation on the global lipid pool and further on certain signalling cascades in a variety of model organisms in more detail.
引用
收藏
页码:1 / 15
页数:15
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