Jang Yoon-Ha, Ahn Sae Ryun, Shim Ji-Yeon, Lim Kwang-Il
Department of Chemical and Biological Engineering, Sookmyung Women's University, Yongsan-gu, Seoul 04310, Korea.
Industry Collaboration Center, Industry-Academic Cooperation Foundation, Sookmyung Women's University, Yongsan-gu, Seoul 04310, Korea.
Pharmaceutics. 2021 May 28;13(6):810. doi: 10.3390/pharmaceutics13060810.
Mitochondria are intracellular energy generators involved in various cellular processes. Therefore, mitochondrial dysfunction often leads to multiple serious diseases, including neurodegenerative and cardiovascular diseases. A better understanding of the underlying mitochondrial dysfunctions of the molecular mechanism will provide important hints on how to mitigate the symptoms of mitochondrial diseases and eventually cure them. In this review, we first summarize the key parts of the genetic processes that control the physiology and functions of mitochondria and discuss how alterations of the processes cause mitochondrial diseases. We then list up the relevant core genetic components involved in these processes and explore the mutations of the components that link to the diseases. Lastly, we discuss recent attempts to apply multiple genetic methods to alleviate and further reverse the adverse effects of the core component mutations on the physiology and functions of mitochondria.
线粒体是参与各种细胞过程的细胞内能量产生器。因此，线粒体功能障碍常常导致多种严重疾病，包括神经退行性疾病和心血管疾病。更好地理解线粒体功能障碍背后的分子机制将为如何减轻线粒体疾病症状并最终治愈它们提供重要线索。在本综述中，我们首先总结控制线粒体生理和功能的遗传过程的关键部分，并讨论这些过程的改变如何导致线粒体疾病。然后，我们列出参与这些过程的相关核心遗传成分，并探索与疾病相关的成分突变。最后，我们讨论最近应用多种遗传方法来减轻并进一步逆转核心成分突变对线粒体生理和功能的不利影响的尝试。
