Mechanism of amyloid formation in amyloidosis : Clinical, biochemical, and pathological study

我们发现变异体转甲状腺素（TTR）与HDL和LDL结合循环。在FAP患者的HDL中，检测到几乎相同水平的正常和变异TTR，而在提取的LDL中仅观察到变异TTR: 0.6%的循环TTR与LDL相关。这种现象也出现在其他突变点的LDL中，如Gln89、Pro36和Thr34。将提取的LDL与变异体TTR和正常TTR孵育，发现变异体TTR增加了对LDL的亲和力。5例FAP患者在瑞典Huddinge医院和布里斯班亚历山德拉公主医院接受了肝移植。术后5 ~ 24个月临床表现良好。正如我们之前报道的，尤其是自主神经功能障碍明显改善。采用低温和高温控制水浴法对FAP中TTR突变进行基因寻找。

We found out that variant transthyretin (TTR) circulates bound to both HDL and LDL.In HDL from FAP patients, almost the same levels of normal and variant TTR was detected while only variant TTR was observed in extracted LDL : 0.6% of the circulated TTR was associated with LDL.This phenomenon was also seen in LDL from other points of mutation, such as Gln89, Pro36, and Thr34. Incubation of extracted LDL and with variant and normal TTR revealed that variant form of TTR increased the affinity to LDL.Five FAP patients underwent liver transplantation at Huddinge Hospital, Sweden, and Brisbane Princess Alexandra Hospotal. They all had good clinical couese 5-24 months after the operation. As we reported previously, especially autonomic dysfunction improved significantly.Gene hunting for TTR mutations in FAP was also tried to perfom using low and high temperature controlling water bath.