Département de Neurologie, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 boulevard de l'Hôpital, 75013 Paris, France; Université Pierre et Marie Curie (Paris VI), Paris, France.
Centre de référence de pathologie neuromusculaire Paris-Est, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France; Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.
J Clin Neurosci. 2014 Jan;21(1):186-8. doi: 10.1016/j.jocn.2013.03.019. Epub 2013 Jul 2.
Recent experimental data underline the relationship between mitochondria and immune function. Clinical reports of patients presenting with mitochondrial dysfunction associated with dysimmune responses in the central nervous system reinforce this new concept. We describe the first case of a woman presenting with symptoms related to a novel compound heterozygous mutation of the mitochondrial polymerase γ (POLG) gene, associated with neurological events suggestive of a demyelinating process. Clinical examination revealed bilateral ptosis, progressive external ophthalmoplegia and axonal sensitive polyneuropathy suggestive of a mitochondrial disease. In line with this, muscle biopsy showed ragged red fibers, and sequencing of POLG revealed two heterozygous mutations. In addition, the patient exhibited relapsing neurological symptoms, and cerebral and spinal MRI mimicking multiple sclerosis. This patient stresses the relationship between mitochondrial dysfunction and inflammation. Recent studies suggest that targeting mitochondrial dysfunction could provide benefits in treating some inflammatory diseases.
最近的实验数据强调了线粒体与免疫功能之间的关系。临床报告显示，一些患者表现出与中枢神经系统免疫反应相关的线粒体功能障碍，这进一步证实了这一新概念。我们描述了首例女性病例，其表现出与线粒体聚合酶 γ (POLG) 基因突变相关的新型复合杂合子的症状，该基因突变与提示脱髓鞘过程的神经事件相关。临床检查显示双侧上睑下垂、进行性眼外肌麻痹和轴索性感觉性多神经病，提示存在线粒体疾病。肌肉活检显示破碎红纤维，POLG 测序显示存在两个杂合突变。此外，该患者表现出复发性神经症状，大脑和脊髓 MRI 类似于多发性硬化症。该患者强调了线粒体功能障碍与炎症之间的关系。最近的研究表明，靶向线粒体功能障碍可能有助于治疗某些炎症性疾病。
