Hattori N, Matsumine H, Asakawa S, Kitada T, Yoshino H, Elibol B, Brookes A J, Yamamura Y, Kobayashi T, Wang M, Yoritaka A, Minoshima S, Shimizu N, Mizuno Y
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.
Biochem Biophys Res Commun. 1998 Aug 28;249(3):754-8. doi: 10.1006/bbrc.1998.9134.
Autosomal recessive juvenile parkinsonism (AR-JP) is a distinct clinical and genetic entity characterized by selective degeneration of nigral neurons. Recently, the parkin gene responsible for AR-JP has been identified. To date, we found two different deletional mutations including single and multiple exonic deletions. In the present study, we identified two types of point mutations (Thr240Arg and Gln311Stop) involving exons 6 and 8 in the parkin gene of the AR-JP patients from two Turkish families. This is the first report on point mutations for the parkin gene. Furthermore, the Thr240Arg mutation was located on a consensus sequence for the site of phosphorylation by casein kinase II. Identification of its mutation provides an important clue as to the role of the Parkin protein in degeneration of the substantia nigra in the brain of AR-JP patients.
常染色体隐性少年帕金森病（AR-JP）是一种独特的临床和遗传疾病，其特征为黑质神经元的选择性退化。最近，已鉴定出与AR-JP相关的帕金基因。迄今为止，我们发现了两种不同的缺失突变，包括单个和多个外显子缺失。在本研究中，我们在来自两个土耳其家庭的AR-JP患者的帕金基因中鉴定出两种涉及外显子6和8的点突变（Thr240Arg和Gln311Stop）。这是关于帕金基因点突变的首次报道。此外，Thr240Arg突变位于酪蛋白激酶II磷酸化位点的共有序列上。其突变的鉴定为帕金蛋白在AR-JP患者大脑黑质退化中的作用提供了重要线索。
