Mitochondrial Genomics: Emerging Paradigms and Challenges

Mitochondria generate almost all of the energy needed by the cells to grow and sustain life and hence mitochondrial dysfunction may lead to severe disease phenotypes. The dysfunction may arise because of mutations in mitochondrial DNA (mtDNA), nuclear DNA (nDNA), or both, and manifest in a broad spectrum of disease phenotypes depending on the mutation load. The prevalence of mitochondrial diseases is 1 in 5000. Therefore evidence-based clinical practice protocols are proposed for mitochondrial disease diagnosis or treatment. Next generation sequencing (NGS) is being recommended as the first-line test to provide more accurate diagnosis associated with mitochondrial diseases. This chapter focuses on advancements, advantages, limitations, and future directions of the next generation molecular methods for mitochondrial disease diagnosis and also briefly describes the ongoing translational efforts to systematically address the problem of mitochondrial diseases through focused programs and consortia-based approaches.