Nakazato M
Third Department of Internal Medicine, Miyazaki Medical College.
Rinsho Shinkeigaku. 1995 Dec;35(12):1436-7.
Recent advances in protein chemistry and the molecular biology of amyloid proteins have led to knowledge of the primary etiology of FAP. The protein product of the gene in question was identified, then the chromosomal location and point mutations in the gene were determined. Diagnosis of the disorder now can be made at the protein and DNA levels. Recombinant techniques for producing variant proteins have been established and a transgenic mouse that carries the mutated gene have been produced. Liver transplantation, a curative therapy for FAP, has been used for some patients. Procedures for the diagnosis of TTR-related FAP and the elucidation of TTR abnormality are summarized as follows: TTR-related FAP should be considered when biopsies of abdominal fat, the gingiva, stomach, rectum and sural nerves demonstrate amyloid deposits that are specifically stained by anti-TTR antiserum. Analysis of the TTR gene based on RFLP and single strand conformational polymorphism is useful for detecting the genetic mutations identified so far. Even when no known mutations have been detected, protein sequence analysis of serum TTR and nucleotide sequence analysis of the TTR gene have shown new variant TTRs. These advances in FAP research herald a new era in our investigation of the molecular biology of inherited neuropathy.
蛋白质化学和淀粉样蛋白分子生物学的最新进展，使我们对家族性淀粉样多神经病（FAP）的主要病因有了认识。确定了相关基因的蛋白质产物，随后确定了该基因在染色体上的位置和点突变。现在可以在蛋白质和DNA水平上对该疾病进行诊断。已经建立了生产变异蛋白的重组技术，并培育出了携带突变基因的转基因小鼠。肝移植作为FAP的一种治愈性疗法，已应用于部分患者。TTR相关FAP的诊断程序和TTR异常的阐明总结如下：当腹部脂肪、牙龈、胃、直肠和腓肠神经活检显示淀粉样沉积物被抗TTR抗血清特异性染色时，应考虑TTR相关FAP。基于限制性片段长度多态性（RFLP）和单链构象多态性对TTR基因进行分析，有助于检测迄今为止已确定的基因突变。即使未检测到已知突变，血清TTR的蛋白质序列分析和TTR基因的核苷酸序列分析也已显示出新的变异TTR。FAP研究的这些进展预示着我们对遗传性神经病变分子生物学的研究进入了一个新时代。
