NDUFA12L线粒体复合物I组装因子：与tau蛋白病的关联
NDUFA12L mitochondrial complex-I assembly factor: Implications for taupathies.
作者信息
Salama Mohamed, Mohamed Wael M Y
机构信息
Toxicology Department, Mansoura University, Egypt.
Clinical Pharmacology Dept, Menoufia Medical School, Menoufia University, Egypt.
出版信息
Appl Transl Genom. 2015 Jun 18;5:37-9. doi: 10.1016/j.atg.2015.05.003. eCollection 2015 Jun 1.
There is a strong correlation between taupathies and the development and progression of neurodegenerative disorders. Abnormal tau becomes hyperphosphorylated and dissociated from microtubules with the aggregation of intracellular tau aggregates within the patient's brain. The current review is divided into two broad sections. In the first section we discuss the molecular biology and the clinicopathologic features of taupathies. While in the second section we discuss the relationship between mitochondrial complex-I and taupathies. Polymorphism in NDUFA12L may be a crucial factor for development of neurodegenerative taupathies. Thus NDUFA12L screening may be an early biomarker for identifying risk groups for such disorders.
tau蛋白病与神经退行性疾病的发生和发展之间存在密切关联。异常的tau蛋白发生过度磷酸化并与微管解离，同时患者脑内会形成细胞内tau蛋白聚集体。本综述分为两个主要部分。在第一部分中，我们讨论tau蛋白病的分子生物学和临床病理特征。而在第二部分中，我们讨论线粒体复合体I与tau蛋白病之间的关系。NDUFA12L基因多态性可能是神经退行性tau蛋白病发生发展的关键因素。因此，对NDUFA12L进行筛查可能是识别此类疾病风险人群的早期生物标志物。
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