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Batten disease is linked to altered expression of mitochondria-related metabolic molecules

机译:巴滕病与线粒体相关代谢分子表达的改变有关

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摘要

Batten disease (BD) - also known as juvenile neuronal ceroid lipofuscinoses - is an inherited neurodegenerative disorder caused by CLN3 gene mutations. Although CLN3-related oxidative and mitochondrial stresses have been studied in BD, the pathologic mechanism of the disease is not clearly understood. To address the molecular factors linked to high levels of oxidative stress in BD, we examined the expression of mitochondria-related metabolic molecules, including pyruvate dehydrogenase (PDH), ATP citrate lyase (ACL), and phosphoenolpyruvate carboxykinase (PEPCK), as well as the apoptosis-related ganglioside, acetyl-GD3. We observed an increased expression of PDH and a decreased expression of ACL, PEPCK, and acetyl-GD3 in BD lymphoblast cells compared to normal cells, possibly resulting in the high ROS levels, mitochondrial membrane depolarization, and apoptosis typically found in BD.
机译:巴顿病(BD)-也称为青少年神经元类脂褐藻糖浆-是由CLN3基因突变引起的遗传性神经退行性疾病。尽管在BD中已研究了CLN3相关的氧化和线粒体应激,但尚不清楚该疾病的病理机制。为了解决与BD中高水平氧化应激相关的分子因素,我们检查了线粒体相关代谢分子的表达,包括丙酮酸脱氢酶(PDH),ATP柠檬酸裂解酶(ACL)和磷酸烯醇丙酮酸羧激酶(PEPCK)凋亡相关神经节苷脂,乙酰基-GD3。我们观察到,与正常细胞相比,BD淋巴母细胞中PDH的表达增加,ACL,PEPCK和乙酰基GD3的表达减少,这可能导致ROS水平升高,线粒体膜去极化和BD中常见的凋亡。

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