The MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK)

线粒体存在于人体的每个细胞中，其功能就像微型电池，将食物中的能量转化为细胞可以轻松利用的形式。这些微小的电池含有自己的遗传信息（mtDNA），从母亲传给孩子。这种遗传信息是对能量转换过程至关重要的部分酶的蓝图。储存在细胞核中的基因对正常的线粒体功能也很重要，mtDNA或核DNA （nDNA）的破坏（遗传密码的拼写错误或遗漏）都可能导致电池失效，导致线粒体疾病。在英国，每6500人中就至少有1人受到这个问题的影响，通常会导致疲劳、虚弱、不稳定、吞咽困难、中风样发作、癫痫、酸中毒和心脏病等症状。认识到线粒体疾病作为一个重要的临床问题是相对较近的，许多不同形式的疾病（几乎任何身体器官都可能受到影响）仍在被表征。目前尚无治愈方法，而患者呢？线粒体疾病患者的症状用常规药物治疗，但尚未对其进行评估。我们计划确定一个1500名患者（成人和儿童）的队列，其中线粒体疾病已在临床和遗传基础上被确定。我们开发这一队列的目的是将我们对线粒体疾病科学的理解的改进转化为对患者的直接健康益处。我们还希望进一步了解线粒体疾病的机制和传播，并评估（和优化）线粒体疾病患者中风、癫痫、糖尿病、生长不良和心脏病等并发症的治疗。该队列也将成为评估新的临床干预措施（如靶向线粒体的药物和运动疗法）的快速获取资源。该队列将通过MRC神经肌肉疾病转化研究中心进行管理，并在资助期结束时转移到NHS。收集的数据将以负责任的方式管理和存储，患者的护理将不受他们是否参加队列的决定的影响。

Mitochondria are found in every cell in the body and function like tiny batteries, converting energy locked in foodstuffs into a form that can be used easily by the cell. These tiny batteries contain their own genetic information (mtDNA) that is passed from mother to child. This genetic information is a blueprint for parts of the enzymes crucial for the energy conversion process. Genes stored in the nucleus are also important for normal mitochondrial function and disruption (misspelling or omissions in the genetic code) of either mtDNA or nuclear DNA (nDNA) can cause the batteries to fail, resulting in mitochondrial disease. This problem appears to affect at least 1 in 6500 people in the UK and commonly leads to symptoms of fatigue, weakness, unsteadiness, swallowing difficulties, stroke-like episodes, seizures, acidosis and heart disease. Recognition of mitochondrial disease as a significant clinical problem is relatively recent and many of the different forms of the disease (virtually any body organ can be affected) are still being characterized. At present no cure is available and patients? symptoms are treated with conventional medicines that have not been assessed in patients with mitochondrial disease.We plan to define a cohort of 1500 patients, (adults and children), in whom mitochondrial disease has been identified on both clinical and genetic grounds. Our aims in developing this cohort are to translate improvements in our understanding of the science of mitochondrial disease into direct health benefits for patients. We also want to further our understanding of mitochondrial disease mechanisms and transmission and to evaluate (and optimise) the treatment of complications such as stroke, seizures, diabetes, poor growth and heart disease in patients with mitochondrial disease. The cohort will also be a rapidly accessible resource for assessing novel clinical interventions such as drugs targeted to mitochondria and exercise therapy. The cohort will be managed through The MRC Centre for Translational Research in Neuromuscular Disease and transferred to the NHS at the end of the period of funding. Data collected will be managed and stored responsibly and patient care will be unaffected by their decision to enrol in the cohort or not.