Saraiva M J, Costa P P, Birken S, Goodman D S
Trans Assoc Am Physicians. 1983;96:261-70.
In summary, these studies have demonstrated the following: 1) plasma TTR levels are significantly decreased in Portuguese patients with FAP; 2) FAP-TTR is indistinguishable from normal TTR with regard to a wide range of physiochemical properties; 3) RBP levels and vitamin A transport appear to be normal in FAP patients; 4) an abnormal TTR with a methionine for valine substitution at position 30 is found as amyloid protein in tissues of patients with FAP; and 5) this abnormal TTR is present in small amounts in plasma of patients with FAP. Based on these observations, we postulate that this abnormal form of TTR selectively deposits in tissues as the amyloid characteristic of the disease.
总之，这些研究表明了以下几点：1）葡萄牙FAP患者的血浆TTR水平显著降低；2）FAP-TTR在广泛的物理化学性质方面与正常TTR无法区分；3）FAP患者的RBP水平和维生素A转运似乎正常；4）在FAP患者组织中发现一种异常TTR，其第30位缬氨酸被蛋氨酸取代，作为淀粉样蛋白存在；5）这种异常TTR在FAP患者血浆中含量很少。基于这些观察结果，我们推测这种异常形式的TTR作为该疾病特有的淀粉样蛋白选择性地沉积在组织中。
