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Mitochondrial Genetics and Genomics in Clinical Medicine 

Mitochondrial Genetics and Genomics in Clinical Medicine
Chapter:
Mitochondrial Genetics and Genomics in Clinical Medicine
Author(s):

Agnès Rötig

and Dhavendra Kumar

DOI:
10.1093/med/9780199896028.003.0009
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date: 29 May 2020

Mitochondria are one of the major intracellular organelles that are central to cellular energy production and maintenance mediated through oxidative phosphorylation (OxPhos) and the production of adenine triphosphate (ATP). These are unevenly distributed across all organs and body systems. Organs that require rapid and high energy turnover would evidently possess relatively higher concentration of physiologically active mitochondria; for example brain, eyes, vestibulo-cochlear part of the auditory system, endocrine glands, heart, liver, pancreas, kidneys and gastrointestinal tract. Qualitative and quantitative defects in the mitochondrial system are known to be associated with multi-organ and multi-system manifestations. The mitochondrial system includes several proteins encoded by a complex set of DNA sequences distributed across the nuclear and mitochondrial genomes. This chapter outlines the basic components of the mitochondrial genetics and genomics relevant to systemic clinical medicine. Emphasis is given to key multi-system mitochondrial genetic disorders and complex medical disorders related to respiratory chain defects.

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