Transthyretin-Related Hereditary Amyloidosis in a Chinese Family with TTR Y114C Mutation

<i>Background:</i> Transthyretin-related hereditary amyloidosis is an autosomal dominant inherited disease caused by mutations in the transthyretin <i>(TTR)</i> 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. <i>Objective/Method:</i> Here, we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with <i>TTR</i> Tyr114Cys mutation. <i>Results/Conclusion:</i> The pathogenic mechanism studies showed that the protein encoded by <i>TTR</i> 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.