Higuchi S, Arai H, Matsushita S, Matsui T, Kimpara T, Takeda A, Shirakura K
National Institute on Alcoholism, Kurihama National Hospital, Yokosuka, Kanagawa, 239, Japan.
Exp Neurol. 1998 Sep;153(1):164-6. doi: 10.1006/exnr.1998.6868.
Recently, alpha-synuclein attracted attention when Polymeropoulos and colleagues identified a missense mutation of this gene (Science 276:2045-2047, 1997), which is responsible for a form of early-onset familial Parkinson's disease (PD). Immunohistochemically, alpha-synuclein is localized in Lewy bodies, characteristic brain pathology of PD, dementia with Lewy bodies (DLB), and Alzheimer's disease (AD), suggesting that this protein may link these common neurological diseases. Exploration of the possibility that the same mutation of the alpha-synuclein gene as that in familial PD (Ala53Thr) may also confer susceptibility to sporadic PD, DLB, and AD revealed the mutation in none of the samples of 329 cases and 230 controls examined, suggesting that this mutation is not involved in these neurological diseases.
最近，当波利梅洛普洛斯及其同事鉴定出该基因的一个错义突变时（《科学》276:2045 - 2047，1997），α-突触核蛋白引起了关注，该突变导致一种早发性家族性帕金森病（PD）。免疫组织化学显示，α-突触核蛋白定位于路易小体，这是PD、路易体痴呆（DLB）和阿尔茨海默病（AD）的特征性脑病理表现，提示该蛋白可能与这些常见的神经疾病有关。对α-突触核蛋白基因与家族性PD中相同突变（Ala53Thr）也可能使散发性PD、DLB和AD易感性增加这一可能性的探索显示，在检测的329例病例和230例对照样本中均未发现该突变，表明该突变与这些神经疾病无关。
