Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Neurodegener Dis. 2011;8(4):187-93. doi: 10.1159/000321679. Epub 2010 Dec 3.
Transthyretin-related hereditary amyloidosis is an autosomal dominant inherited disease caused by mutations in the transthyretin (TTR) gene. Corresponding to the various transthyretin gene mutations and a wide range of geographical distribution, transthyretin-related hereditary amyloidosis presents diverse characteristics in genotype-phenotype correlation.
OBJECTIVE/METHOD: Here, we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with TTR Tyr114Cys mutation.
RESULTS/CONCLUSION: The pathogenic mechanism studies showed that the protein encoded by TTR Tyr114Cys is more easily depolymerized to form amyloid fibrils. Moreover, the cytotoxicity of the TTR Tyr114Cys may be attributed to its ability to persistently activate the extracellular-signal-regulated kinase 1/2 pathway.
转甲状腺素相关遗传性淀粉样变性是一种常染色体显性遗传性疾病，由转甲状腺素（TTR）基因突变引起。由于各种 TTR 基因突变和广泛的地理分布，转甲状腺素相关遗传性淀粉样变性在基因型-表型相关性方面表现出不同的特征。
目的/方法：本研究旨在确定携带有 TTR Tyr114Cys 突变的中国家族性转甲状腺素相关遗传性淀粉样变性的临床特征。
结果/结论：发病机制研究表明，TTR Tyr114Cys 编码的蛋白更容易解聚形成淀粉样纤维。此外，TTR Tyr114Cys 的细胞毒性可能与其持续激活细胞外信号调节激酶 1/2 通路的能力有关。
