Research Progress on Pathogenesis of Hereditary Diseases Caused by Mutations of Oxidoreductase DHTKD1 and Related Mouse Models

doi:10.3969/j.issn.1674-5817.2018.06.013

Abstract

Abstract: As an oxidoreductase, dehydrogenase E1 and transketolase domain-containing 1(DHTKD1)catalyzes the oxidation dehydrogenation of 2-ketoadipic acid to produce glutaryl-CoA. Then the final product, acetyl-CoA enters the tricarboxylic acid cycle, finally producing adenosine-triphosphate (ATP) to provide energy for the cell and organism. So far, researchers have found that mutations in multiple loci of DHTKD1 gene are associated with mitochondrial dysfunction, leading to genetic diseases in human. This article focuses on the correlation between DHTKD1 gene mutation and human genetic diseases, and discussion about the corresponding mechanism. Furthermore, we dialectically discuss two available knockout mouse models.

Key words: Dehydrogenase E1 and transketolase domain-containing 1(DHTKD1) gene, Gene mutation, Genetic disease, Mitochondrion, Mouse model

CLC Number:

Q95-33

SHEN Yan, XU Wang-yang, ZHU Hou-bao. Research Progress on Pathogenesis of Hereditary Diseases Caused by Mutations of Oxidoreductase DHTKD1 and Related Mouse Models[J]. Laboratory Animal and Comparative Medicine, 2018, 38(6): 468-472.

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