Department of Biotechnology, Hoseo University, 165 Baebang, Asan, Chungnam, Republic of Korea.
Neurochem Int. 2013 Jun;62(7):931-5. doi: 10.1016/j.neuint.2013.03.007. Epub 2013 Mar 21.
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.
巴滕病（BD）——也称为青少年神经元蜡样脂褐质沉积症——是一种由 CLN3 基因突变引起的遗传性神经退行性疾病。尽管 CLN3 相关的氧化和线粒体应激已在 BD 中进行了研究，但该疾病的病理机制尚不清楚。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）、三磷酸柠檬酸裂解酶（ACL）和磷酸烯醇丙酮酸羧激酶（PEPCK），以及与细胞凋亡相关的神经节苷脂，乙酰-GD3。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-GD3 的表达减少，这可能导致 BD 中通常发现的高水平 ROS 水平、线粒体膜去极化和细胞凋亡。
