Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.
BACKGROUND
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
Here, we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with TTR Tyr114Cys mutation.


CONCLUSIONS
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.
Department of Neurology and Institute of Neurology, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Yu
Y
Zhang
Yu-Lei
YL
Deng
Jian-Fang
JF
Ma
Lan
L
Zheng
Zhen
Z
Hong
Zhi-Quan
ZQ
Wang
Cheng-Yu
CY
Sheng
Qin
Q
Xiao
Li
L
Cao
Sheng-Di
SD
Chen
D028226:Amyloidosis, Familial / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics* / Q000378:metabolism
D011228:Prealbumin