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基因与各种疾病的关系及预防策略。

The relationship between gene & various diseases and prevention strategies.

作者信息

Liu Dan, Yu Qi, Ning Qing, Liu Zhongqiu, Song Jie

机构信息

Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, Nanjing, PR China.

Jiangsu Province Academy of Traditional Chinese Medicine, Nanjing, PR China.

出版信息

Drug Metab Rev. 2022 Feb;54(1):1-21. doi: 10.1080/03602532.2021.2001493. Epub 2021 Nov 22.

Abstract

UDP-glucuronyltransferase 1A1 (UGT1A1) is a member of the Phase II metabolic enzyme family and the only enzyme that can metabolize detoxified bilirubin. Inactivation and very low activity of UGT1A1 in the liver can be fatal or lead to lifelong Gilbert's syndrome (GS) and Crigler-Najjar syndrome (CN). To date, more than one hundred UGT1A1 polymorphisms have been discovered. Although most UGT1A1 polymorphisms are not fatal, which diseases might be associated with low activity UGT1A1 or UGT1A1 polymorphisms? This scientific topic has been studied for more than a hundred years, there are still many uncertainties. Herein, this article will summarize all the possibilities of gene-related diseases, including GS and CN, neurological disease, hepatobiliary disease, metabolic difficulties, gallstone, cardiovascular disease, Crohn's disease (CD) obesity, diabetes, myelosuppression, leukemia, tumorigenesis, etc., and provide guidance for researchers to conduct in-depth study on gene-related diseases. In addition, this article not only summarizes the prevention strategies of gene-related diseases, but also puts forward some insights for sharing.

摘要

尿苷二磷酸葡萄糖醛酸基转移酶1A1(UGT1A1)是Ⅱ相代谢酶家族的成员,也是唯一能够代谢解毒胆红素的酶。肝脏中UGT1A1的失活和极低活性可能是致命的,或者会导致终身的吉尔伯特综合征(GS)和克里格勒 - 纳贾尔综合征(CN)。迄今为止,已经发现了一百多种UGT1A1多态性。虽然大多数UGT1A1多态性并不致命,但哪些疾病可能与UGT1A1低活性或UGT1A1多态性有关呢?这个科学课题已经研究了一百多年,仍然存在许多不确定性。在此,本文将总结与该基因相关疾病的所有可能性,包括GS和CN、神经系统疾病、肝胆疾病、代谢障碍、胆结石、心血管疾病、克罗恩病(CD)、肥胖症、糖尿病、骨髓抑制、白血病、肿瘤发生等,并为研究人员对该基因相关疾病进行深入研究提供指导。此外,本文不仅总结了该基因相关疾病的预防策略,还提出了一些可供分享的见解。

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