Transthyretin-related familial amyloidotic polyneuropathy -Progress in Kumamoto, Japan (1967-2010)-

被引：33

作者：

Araki, Shukuro ^{[1
]}

Ando, Yukio ^{[1
]}

机构：

[1] Kumamoto Univ, Grad Sch Med Sci, Dept Diagnost Med, Kumamoto, Japan

来源：

PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES | 2010年 / 86卷 / 07期

关键词：

transthyretin-related familial amyloidotic polyneuropathy (TTR-related FAP); clinicopathology; molecular genetics; epidemiology; diagnostic tests; liver transplantation; LIVER-TRANSPLANTATION; MASS-SPECTROMETRY; THYROXINE-BINDING; PRE-ALBUMIN; VARIANT; PROTEIN; IDENTIFICATION; DYSFUNCTION; TETRAMER; MUTATION;

D O I：

10.2183/pjab.86.694

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The authors reviewed contribution of Kumamoto University group to the progress of the studies on transthyretin (TTR)-related familial amyloidotic polyneuropathy (TTR-related PAP) for 42 years (from 1967 to 2009) Andiade (1952) first; described a large group of patients with PAP in Portugal and Araki et al,. (1967) in second discovered similar PAP patients in Arao, Kumamoto, japan. Owing to pi ogress in biochemical and molecular genetic analyses, PAP is now believed to occur worldwide As of today, reports of about 100 different points of single or two mutations, or a deletion in the transthyretin (TTR) gene, have been published. The authors' group has made pioneer works for study of PAP in the world. The focus on therapy in amylodosis will increase sharply as an impetus in near future, and successful treatments are expected

引用

页码：694 / 706

页数：13

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