Jamrozik Zygmunt, Berdynski Mariusz, Zekanowski Cezary, Baranczyk-Kuzma Anna, Sławek Jarosław, Kuzma-Kozakiewicz Magdalena, Maruszak Aleksandra, Kwiecinski Hubert
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
Ann Clin Lab Sci. 2013 Spring;43(2):151-3.
Interactions of transcriptions factors Nurr1, Pitx3, and EN1 are involved in the maturation and survival of adult midbrain dopaminergic neurons during a lifetime. The aim of the study was to evaluate the presence of mutations and single nucleotide polymorphisms in PITX3 gene in clinically diagnosed multisystem atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD). In the group of 77 patients with MSA, 44 with PSP, and 6 with CBD, no pathogenic mutations were identified.
转录因子Nurr1、Pitx3和EN1的相互作用在成年中脑多巴胺能神经元的一生中参与其成熟和存活过程。本研究的目的是评估临床诊断为多系统萎缩（MSA）、进行性核上性麻痹（PSP）和皮质基底节变性（CBD）的患者中PITX3基因的突变和单核苷酸多态性情况。在77例MSA患者、44例PSP患者和6例CBD患者中，未发现致病突变。
