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Mitochondrial structure, function, and genetics

Erin O'Ferrall, MD
Section Editors
Jeremy M Shefner, MD, PhD
Sihoun Hahn, MD, PhD
Deputy Editor
John F Dashe, MD, PhD


Mitochondrial diseases can be defined as a group of chronic, genetically determined disorders caused by dysfunction of the mitochondria, which are organelles found in almost every cell type in the human body. Mitochondrial diseases encompass myopathies, encephalomyopathies, and multisystemic diseases that are caused by mitochondrial or nuclear DNA defects. In addition, mitochondrial dysfunction is emerging as important in the pathogenesis of a range of conditions including neurodegenerative diseases (Parkinson, Alzheimer, and Huntington diseases), cardiovascular disease, cancer, and even the aging process. This understanding has challenged the previously held view that mitochondrial diseases are limited to those affecting (directly or indirectly) the proteins of the respiratory chain.

Since 2005, there has been an enormous expansion in both the phenotypic and genotypic diversity of mitochondrial disease. There has been a parallel expansion in our knowledge of mitochondrial function. Mitochondria are no longer conceptualized as simply the "power houses" of the cell (ie, referring to the role of the mitochondrial in producing energy) but are now known to play important roles in a diverse range of cellular processes from apoptosis to immunity.

This topic will give a brief overview of mitochondrial structure, function, and genetic attributes. Clinical aspects of mitochondrial disorders are discussed separately. (See "Mitochondrial myopathies: Clinical features and diagnosis" and "Renal involvement in the mitochondrial cytopathies".)


Mitochondria are intracellular organelles found in almost all human cells.

Mitochondria are thought to be derived from aerobic bacteria that invaded the proto eukaryotic cell more than a billion years ago and lived in a symbiotic relationship with it, exchanging energy in the form of adenosine triphosphate (ATP) for residence. However, this "endosymbiotic hypothesis" is not universally accepted and has been challenged [1].

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Literature review current through: Nov 2017. | This topic last updated: May 02, 2017.
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