Mitochondrial Genomics and Their Clinical Significance

Mitochondria, the powerhouse of cell and a double membrane cell organelle is one of the crucial cellular organelles. Mitochondria have evolved from bacteria and contain their own genome/DNA (mtDNA). The mitochondrial genome consists of a circular 16.6 kb DNA and nuclear DNA. Mitochondrial DNA transfers from the mother to the offspring and plays a crucial role in the onset of several incurable diseases. Due to the presence of dual-system mtDNA and nuclear DNA, it is quite difficult to explore the exact involvement of mitochondrial/nuclear DNA in several disease occurrences. Thus, a detailed study of mitochondrial DNA, and its interaction with other genes might help us to develop better therapeutic targets for several mitochondrial diseases. The availability of several modern tools and techniques and various model organisms can help chop out mtDNA’s details. Thus, there are tremendous opportunities for the clinician in the field of mitochondrial disease and identification of possible strategies for their fruitful regulation. In the current chapter, we have provided an updated version of the mitochondrial genome and its potential clinical significance.