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. 2012 Feb;44(1):41-59.
doi: 10.3109/07853890.2011.598547. Epub 2011 Aug 2.

Mechanisms of mitochondrial diseases

Emil Ylikallio  1 , Anu Suomalainen
Affiliations
Free article

Mechanisms of mitochondrial diseases

Emil Ylikallio et al. Ann Med. 2012 Feb.
Free article

Abstract

Mitochondria are essential organelles with multiple functions, the most well known being the production of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). The mitochondrial diseases are defined by impairment of OXPHOS. They are a diverse group of diseases that can present in virtually any tissue in either adults or children. Here we review the main molecular mechanisms of mitochondrial diseases, as presently known. A number of disease-causing genetic defects, either in the nuclear genome or in the mitochondria's own genome, mitochondrial DNA (mtDNA), have been identified. The most classical genetic defect causing mitochondrial disease is a mutation in a gene encoding a structural OXPHOS subunit. However, mitochondrial diseases can also arise through impaired mtDNA maintenance, defects in mitochondrial translation factors, and various more indirect mechanisms. The putative consequences of mitochondrial dysfunction on a cellular level are discussed.

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