Ando Yukio, Ueda Mitsuharu
Department of Diagnostic Medicine, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto 860-0811, Japan.
Front Biosci. 2008 May 1;13:5548-58. doi: 10.2741/3098.
Transthyretin (TTR)-related familial amyloidotic polyneuropathy (FAP) is an autosomal dominant form of fatal hereditary amyloidosis. Until 25 years ago, tools for diagnosis of FAP were restricted to clinical manifestations and pathologic methods, and a small number of patients in the restricted endemic areas could be diagnosed with this disease. However, owing to progress in biochemical and molecular genetic analyses, this disease is now believed to occur worldwide. As of today, reports of about 100 different points of single or double mutations, or a deletion in the TTR gene have been published, and several different phenotypes of FAP have been documented, even for the same mutation in the TTR gene. Since liver transplantation has been established to halt the progression of FAP, rapid and reliable diagnostic system for FAP is needed. We present here a new diagnostic procedure for the disease using current methods of molecular genetics and protein chemistry.
转甲状腺素蛋白（TTR）相关的家族性淀粉样多发性神经病（FAP）是一种常染色体显性遗传的致命性遗传性淀粉样变性病。直到25年前，FAP的诊断工具还局限于临床表现和病理方法，且只有少数来自特定流行地区的患者能够被诊断出患有此病。然而，由于生化和分子遗传学分析的进展，现在认为这种疾病在全球范围内都有发生。截至目前，已经发表了关于TTR基因中约100个不同的单突变或双突变位点，或缺失的报道，并且即使对于TTR基因中的相同突变，也记录了几种不同的FAP表型。由于肝移植已被确立为阻止FAP进展的方法，因此需要快速且可靠的FAP诊断系统。我们在此介绍一种使用当前分子遗传学和蛋白质化学方法诊断该疾病的新程序。
