Mendelian-inherited respiratory chain diseases

Introduction For more than a decade, the search for pathogenic mutations in human diseases due to respiratory chain dysfunction has been focused on the mitochondrial genome. Over 100 mutations affecting both tRNA genes and genes specifying subunits of respiratory chain complexes have now been found (11, 36). In the past few years, the focus of attention has shifted to the search for mutations within the nuclear genome (nDNA), including genes that encode structural subunits of the respiratory chain, genes that are needed for the assembly of these subunits, and genes that are involved in intergenomic signalling. We will focus here on known nuclear mutations affecting specific complexes of the respiratory chain, and their assembly. Disorders involving intergenomic signalling are discussed in the review by Hirano and Vu.