Funayama Manabu, Li Yuanzhe, Tsoi Tak-Hong, Lam Ching-Wan, Ohi Takekazu, Yazawa Shogo, Uyama Eiichiro, Djaldetti Ruth, Melamed Eldad, Yoshino Hiroyo, Imamichi Yoko, Takashima Hiroshi, Nishioka Kenya, Sato Kenichi, Tomiyama Hiroyuki, Kubo Shin-Ichiro, Mizuno Yoshikuni, Hattori Nobutaka
Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Bunkyo-Ku, Tokyo, Japan.
Mov Disord. 2008 Jul 30;23(10):1461-5. doi: 10.1002/mds.22143.
To clarify the genetic correlation between parkin and PINK1, we screened for PINK1 mutations in 175 parkinsonism patients with parkin mutations. We detected two sibling pairs and one sporadic patient carrying both parkin and PINK1 mutations. The age at onset of Parkinsonism of patients with the digenic mutations was lower than that of patients with the same parkin mutation alone. In addition, two of three patients carrying both parkin and PINK1 mutations had schizophrenia. These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders.
为了阐明帕金蛋白（parkin）与PTEN诱导激酶1（PINK1）之间的遗传相关性，我们对175例携带帕金蛋白突变的帕金森综合征患者进行了PINK1突变筛查。我们检测到两个同胞对和一名散发患者同时携带帕金蛋白和PINK1突变。双基因突变异质性帕金森综合征患者的发病年龄低于仅携带相同帕金蛋白突变的患者。此外，在三名同时携带帕金蛋白和PINK1突变的患者中，有两名患有精神分裂症。这些发现表明，PINK1突变可能会改变帕金蛋白突变阳性的帕金森综合征，并且PINK1突变可能与精神疾病有关。
