Mitochondrial structure, function, and genetics
- Rami Massie, MD
Rami Massie, MD
- Assistant Professor
- University of Montreal, Faculty of Medicine
- Section Editors
- Jeremy M Shefner, MD, PhD
Jeremy M Shefner, MD, PhD
- Section Editor — Neuromuscular Disease
- Professor and Chair of Neurology, Barrow Neurological Institute
- Professor of Neurology, University of Arizona, Phoenix
- Clinical Professor of Neurology, Creighton University
- Sihoun Hahn, MD, PhD
Sihoun Hahn, MD, PhD
- Section Editor — Genetics
- Professor of Pediatrics
- University of Washington School of Medicine, Seattle Children's Hospital
Mitochondrial diseases are a group of disorders caused by pathologic dysfunction of the mitochondrial respiratory chain. They present with a wide range of clinical expression . Although neurologic impairment is a common manifestation (eg, in the mitochondrial encephalomyopathies), mitochondrial disorders can also affect other organ systems, either exclusively or in combination.
In this topic, we will review the mitochondrial structure and its unique genetic attributes. Clinical aspects of mitochondrial disorders are discussed separately. (See "Mitochondrial myopathies: Clinical features and diagnosis" and "Renal involvement in the mitochondrial cytopathies".)
STRUCTURE AND FUNCTION
Mitochondria are intracellular organelles found in almost all human cells. They are responsible for aerobic metabolism through oxidative phosphorylation, which leads to energy production in the form of adenosine triphosphate (ATP).
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 ATP for residence. However, this "endosymbiotic hypothesis" is not universally accepted and has been challenged .
Each human cell contains on average hundreds to thousands of mitochondria. The exception is mature red blood cells, which rely exclusively on anaerobic metabolism and contain no mitochondria.
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