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

Zhenghua Li; Kenichi Yamamura

doi:10.2478/fzm-2022-0009

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Apr. 2022

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Zhenghua Li, Kenichi Yamamura. Dissecting pathophysiology of a human dominantly inherited disease, familial amyloidotic polyneuropathy, by using genetically engineered mice[J]. Frigid Zone Medicine, 2022, 2(2): 65-75. doi: 10.2478/fzm-2022-0009

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Zhenghua Li, Kenichi Yamamura. Dissecting pathophysiology of a human dominantly inherited disease, familial amyloidotic polyneuropathy, by using genetically engineered mice[J]. Frigid Zone Medicine, 2022, 2(2): 65-75. doi: 10.2478/fzm-2022-0009

Citation:

Zhenghua Li, Kenichi Yamamura. Dissecting pathophysiology of a human dominantly inherited disease, familial amyloidotic polyneuropathy, by using genetically engineered mice[J]. Frigid Zone Medicine, 2022, 2(2): 65-75. doi: 10.2478/fzm-2022-0009

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

doi: 10.2478/fzm-2022-0009

Zhenghua Li^{1, 2},
Kenichi Yamamura^{2, 3
,
,}

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

More Information

Corresponding author: Kenichi Yamamura, E-mail: yamamura@gpo.kumamoto-u.ac.jp
Received Date: 2022-02-23
Accepted Date: 2022-03-15

Available Online: 2022-04-30

Abstract

Abstract

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.

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

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

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