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家族性淀粉样变性多发性神经病(FAP)是一种以淀粉样纤维(AF)沉积为特征的常染色体显性遗传性疾病,AF是由血浆蛋白转甲状腺素蛋白(transthyre-tin,TTR)组成,FAP与TTR内单一氨基酸取代的存在有关。成熟的TTR由4个单体构成,每个单体含127个氨基酸,TTR主要在肝脏和脉络丛合成,其功能是运载饱和视黄醇结合蛋白和甲状腺素,作者发现了一个新的引起FAP的TTR突变。先证者是希腊后裔,女性,37岁时发现玻璃体混浊,一年
Familial Amyloidosis Polyneuropathy (FAP) is an autosomal dominant inherited disease characterized by deposition of amyloid fibrils (AF), which is composed of plasma transthyre-tin (TTR) , FAP is associated with the presence of a single amino acid substitution within the TTR. The mature TTR consists of 4 monomers, each containing 127 amino acids. TTR is predominantly synthesized in the liver and the choroid plexus. Its function is to carry saturated retinol binding proteins and thyroxine. The authors found a new FAP TTR mutation. The proband is a Greek descent, female, 37 years old found vitreous opacity, a year