Saxena Nishtha, Taneja Nancy, Shome Prakriti, Mani Shalini
Department of Biotechnology, Jaypee Institute of Information Technology, Noida, Uttar Pradesh, India.
J Hum Reprod Sci. 2018 Jan-Mar;11(1):3-9. doi: 10.4103/jhrs.JHRS_54_17.
Mitochondria are present in all human cells and vary in number from a few tens to many thousands. As they generate the majority of a cell's energy supply which power every part of our body, and hence, their number varies in different cells as per the energy requirement of the cell. Mitochondria have their own separate DNA, which carries total 13 genes. All of these 13 genes are involved in energy production. For normal functioning of cells, the mitochondria need to be healthy. Unhealthy mitochondria can cause severe medical disorders known as mitochondrial disease. In case of mitochondrial disease, the most commonly affected organs are the heart, kidney, skeletal muscle, and brain. The diseases related to defects in these organs are quite prevalent in the society. Majority of these mitochondrial diseases are caused by genetic defects (mutations) in the mitochondrial DNA. Unlike nuclear genes, mitochondrial DNA is inherited only from our mother. Mothers can carry abnormal mitochondria and be at risk of passing on the serious disease to their children, even if they themselves show only mild or no symptoms. Due to the complex nature of these diseases, their diagnosis and therapy are very difficult. Hence, till now, only the different methods for management of these diseases are known. However, after understanding the complexity related to the cure of these diseases, alternative methods have been developed to minimize/stop the transfer of mitochondrial diseases from mother to offspring. This latest technique is called mitochondrial replacement or "donation." In the present review, we are discussing the methodological details and issues related to the technique of mitochondrial donation. Our study is also a step toward raising awareness about mitochondrial diseases and advocating for the legalization of mitochondrial donation, a revolutionary fertilization technique.
线粒体存在于所有人体细胞中，数量从几十到数千不等。由于它们产生细胞大部分的能量供应，为我们身体的各个部分提供动力，因此，它们的数量根据细胞的能量需求在不同细胞中有所不同。线粒体有自己独立的DNA，总共携带13个基因。这13个基因都参与能量产生。为了细胞的正常功能，线粒体需要保持健康。不健康的线粒体可导致称为线粒体疾病的严重医学病症。在患有线粒体疾病的情况下，最常受影响的器官是心脏、肾脏、骨骼肌和大脑。与这些器官缺陷相关的疾病在社会中相当普遍。这些线粒体疾病大多数是由线粒体DNA中的遗传缺陷（突变）引起的。与核基因不同，线粒体DNA仅从我们的母亲那里遗传。母亲可能携带异常的线粒体，即使她们自己仅表现出轻微症状或没有症状，也有将严重疾病传给孩子的风险。由于这些疾病的复杂性，它们的诊断和治疗非常困难。因此，到目前为止，只知道管理这些疾病的不同方法。然而，在了解了与治愈这些疾病相关的复杂性之后，已经开发出替代方法来尽量减少/阻止线粒体疾病从母亲传给后代。这种最新技术称为线粒体替代或“捐赠”。在本综述中，我们正在讨论与线粒体捐赠技术相关的方法细节和问题。我们的研究也是提高对线粒体疾病的认识并倡导线粒体捐赠合法化（一种革命性的受精技术）的一步。
