Brain Advance Access originally published online on September 9, 2004
Brain 2004 127(10):2153-2172; doi:10.1093/brain/awh259
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Brain Vol. 127 No. 10 © Guarantors of Brain 2004; all rights reserved
Review article |
Mitochondrial disorders
1 Division of Molecular Neurogenetics and 2 Division of Biochemistry and Genetics, Istituto Nazionale Neurologico, Milan, Italy
Correspondence to: Massimo Zeviani, Stefano Di Donato, Istituto Nazionale Neurologico ‘C. Besta’, Via Celoria 11 20133 Milan, Italy E-mail: zeviani{at}istituto-besta.it, didonato{at}istituto-besta.it
In the medical literature the term ‘mitochondrial disorders’ is to a large extent applied to the clinical syndromes associated with abnormalities of the common final pathway of mitochondrial energy metabolism, i.e. oxidative phosphorylation (OXPHOS). Faulty oxidative phosphorylation may be due to overall dysfunction of the respiratory chain, a heteromultimeric structure embedded in the inner mitochondrial membrane, or can be associated with single or multiple defects of the five complexes forming the respiratory chain itself. From the genetic standpoint, the respiratory chain is a unique structure of the inner mitochondrial membrane formed by means of the complementation of two separate genetic systems: the nuclear genome and the mitochondrial genome. The nuclear genome encodes the large majority of the protein subunits of the respiratory complexes and most of the mitochondrial DNA (mtDNA) replication and expression systems, whereas the mitochondrial genome encodes only 13 respiratory complex subunits, and some RNA components of the mitochondrial translational apparatus. Accordingly, mitochondrial disorders due to defects in OXPHOS include both mendelian-inherited and cytoplasmic-inherited diseases. This review describes human genetic diseases associated with mtDNA and nuclear DNA mutations leading to impaired OXPHOS.
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