Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
J Neurol Sci. 2012 Jun 15;317(1-2):29-34. doi: 10.1016/j.jns.2012.03.005. Epub 2012 Apr 5.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a maternally inherited mitochondrial syndrome characterized by seizures, migrainous headaches, lactic acidosis, vomiting, and recurrent stroke-like episodes. Patients often suffer from cognitive dysfunction of unclear pathogenesis. In this study, we explored a possible link between cognitive dysfunction and hippocampal expression of calbindin D(28KD) (CB), a high affinity calcium-binding protein, in four MELAS patients, using post mortem hippocampal tissues. We found significantly reduced CB levels in all patients by immunohistochemistry, Western blot, and quantitative real-time PCR. Reduction in CB expression has been associated with aging and with neurodegenerative disorders, including Alzheimer's disease. We postulate that the reduced CB expression may play a role in the cognitive abnormalities associated with MELAS.
线粒体脑肌病伴高乳酸血症和卒中样发作（MELAS）是一种母系遗传的线粒体综合征，其特征为癫痫发作、偏头痛、乳酸酸中毒、呕吐和反复卒中样发作。患者常伴有不明病因的认知功能障碍。在这项研究中，我们使用死后海马组织，探讨了认知功能障碍与钙结合蛋白 CB（calbindin D(28KD)）在 4 位 MELAS 患者海马表达之间的可能联系。免疫组织化学、Western blot 和定量实时 PCR 显示所有患者的 CB 水平均显著降低。CB 表达减少与衰老和神经退行性疾病有关，包括阿尔茨海默病。我们推测，CB 表达减少可能与 MELAS 相关的认知异常有关。
