Dissecting pathophysiology of a human dominantly inherited disease, familial amyloidotic polyneuropathy, by using genetically engineered mice  

作　　者：Zhenghua Li Kenichi Yamamura 

机构地区：[1]Department of Histology and Embryology,Harbin Medical University,Harbin 150081,China [2]Institute of Resource Development and Analysis,Kumamoto University,Kumamoto 860-0811,Japan [3]TransGenic,Inc.,Fukuoka 810-0001,Japan

出　　处：《Frigid Zone Medicine》2022年第2期65-75,共11页寒地医学（英文）

基　　金：This work was partly supported by Grants-in-Aid for Scientific Research(61480439,63440082,10470506,13470509,17200028 to K.Y.,21590361,24590404,19K07354 to Z.L.)from the Japan Society for the Promotion of Science.The manuscript has been carefully edited by Nature Research Editing Service(http://authorservices.springernature.com).

摘　　要：Familial amyloidotic polyneuropathy(FAP)is a type of systemic amyloidosis characterized by peripheral and autonomic neuropathy.Although FAP is a typical autosomal dominant disorder caused by a point mutation in the TTR gene,the average age at onset varies significantly among different countries.This discrepancy clearly suggests that a combination of intrinsic factors as well as extrinsic(environmental)factors shapes the development of FAP.However,these factors are difficult to analyze in humans,because detailed pathologic tissue analysis is only possible at autopsy.Thus,mouse models have been produced and used to disentangle these factors.This review covers the mouse models produced thus far and how these models are applied to analyze intrinsic and extrinsic factors involved in disease development and to test drug efficacy.

关 键 词：AMYLOID POLYNEUROPATHY NEUROPATHY 

分 类 号：R363[医药卫生—病理学]