Mitochondrial structure, function, and genetics
- Erin O'Ferrall, MD
Erin O'Ferrall, MD
- Assistant Professor
- McGill University
- 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 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 .To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- Energy production and metabolism
- Respiratory chain
- Mitochondrial DNA replication, maintenance, and transcription
- Mitochondrial protein synthesis
- Mitochondrial dynamics
- Production of reactive oxygen species
- Calcium homeostasis
- Maintenance of the lipid membrane
- MITOCHONDRIAL GENETICS
- Mitochondrial DNA
- - Mutation rate
- - Maternal inheritance
- - Heteroplasmy
- - Threshold effect
- - Mitotic segregation
- - Postmitotic replication
- Nuclear DNA