PRO-]LEU CHANGE AT POSITION-102 OF PRION PROTEIN IS THE MOST COMMON BUT NOT THE SOLE MUTATION RELATED TO GERSTMANN-STRAUSSLER SYNDROME
PRO-]LEU CHANGE AT POSITION-102 OF PRION PROTEIN IS THE MOST COMMON BUT NOT THE SOLE MUTATION RELATED TO GERSTMANN-STRAUSSLER SYNDROME
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DOI：
10.1016/0006-291x(89)92317-6
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发表时间：
1989-09-15
影响因子：
3.1
通讯作者：
SAKAKI, Y
中科院分区：
文献类型：
--
作者：
DOHURA, K;TATEISHI, J;SAKAKI, Y
宿主编码的朊病毒蛋白（PrP）是Gerstmann-Straussler综合征（GSS）患者大脑中沉积的可传播淀粉样蛋白的一种成分。最近在两个无关的高加索家庭GSS已被报道与PrP密码子102，脯氨酸亮氨酸（Leu 102）的氨基酸变化。然而，目前尚不清楚这种变化是否普遍存在于一般安全部队，而不论其族裔出身。我们在这里报告说，Leu 102也发现在所有的日本GSS患者测试。 有趣的是，一位法国GSS患者被发现有另一种变化，密码子117（Val 117）中的丙氨酸变为缬氨酸，而不是Leu 102。我们的研究结果表明，Leu 102是密切相关的GSS，无论种族起源，但不是唯一的突变相关的GSS。Val 117也可能与GSS有关。
The host-encoded prion protein (PrP) is a component of transmissible amyloid deposited in the brains affected by Gerstmann-Straussler syndrome (GSS). Recently GSS in two unrelated Caucasian families has been reported to be linked to an amino acid change in PrP codon 102, proline to leucine (Leu102). However, it has not been clear whether the change is commonly found to GSS regardless of ethnic origin. We report here that Leu102 is also found in all the Japanese GSS patients tested. Interestingly, one French GSS patient was found to have another change, alanine to valine in codon 117 (Val117), instead of Leu102. Our results indicate that Leu102 is closely related to GSS irrespective of ethnic origin, but not the sole mutation related to GSS. Val117 may also be related to GSS.