Murakami T, Uchino M, Ando M
First Department of Internal Medicine, Kumamoto University School of Medicine, Japan.
Pathol Int. 1995 Jan;45(1):1-9. doi: 10.1111/j.1440-1827.1995.tb03373.x.
Familial amyloidotic polyneuropathy (FAP) is an autosomal inherited disease, characterized by extracellular amyloid deposits and by peripheral neuropathy. Amyloid fibrils derived from most types of FAP consist of variant transthyretin (TTR) with single amino acid substitutions, and methionine 30 TTR is the most common variant TTR. TTR is mainly produced in the liver and the choroid plexus. Biochemical and molecular biological techniques have been revealing the amyloidogenicity of variant TTR in vitro and in vivo using the transgenic mouse as a model. It will be important for the development of effective therapy to find out the factors, other than variant TTR, which affect amyloid deposition and define the tissue specificity of amyloid.
家族性淀粉样多神经病（FAP）是一种常染色体显性遗传病，其特征为细胞外淀粉样沉积物和周围神经病变。大多数类型FAP的淀粉样原纤维由具有单个氨基酸替代的变异型转甲状腺素蛋白（TTR）组成，甲硫氨酸30 TTR是最常见的变异型TTR。TTR主要在肝脏和脉络丛中产生。生物化学和分子生物学技术一直以转基因小鼠为模型，在体外和体内揭示变异型TTR的淀粉样变性。找出除变异型TTR之外影响淀粉样沉积的因素，并确定淀粉样物质的组织特异性，对于开发有效治疗方法至关重要。
