Brain Advance Access published online on September 9, 2004
Brain, doi:10.1093/brain/awh259
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1 Division of Molecular Neurogenetics, Istituto Nazionale Neurologico, Milan, Italy
* To whom correspondence should be addressed. E-mail: zeviani{at}istituto-besta.it.
Summary 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.
Revised May 17, 2004
Accepted May 21, 2004
Review
Mitochondrial disorders
2 Division of Biochemistry and Genetics, Istituto Nazionale Neurologico, Milan, Italy
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