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Human Reproduction, Vol. 15, No. suppl_2, pp. 28-43, 2000
© 2000 European Society of Human Reproduction and Embryology

Genetic defects causing mitochondrial respiratory chain disorders and disease

John Christodoulou1

Western Sydney Genetics Program, Royal Alexandra Hospital for Children Westmead, Department of Paediatrics and Child Health, University of Sydney Sydney, Australia

Correspondence: 1To whom correspondence should be addressed at: Western Sydney Genetics Program, Royal Alexandra Hospital for Children, Westmead, NSW 2145, Australia. E-mail: johnch{at}mail.usyd.edu.au

Genetic defects of the mitochondrial respiratory chain show marked phenotypic variability. Laboratory diagnosis is complicated and includes biochemical screening tests, tissue histopathology, functional enzyme studies, and molecular tests where available. Normal respiratory chain function necessitates the co-ordinated expression of over 100 different gene loci, and the interaction of two genetic systems, the nuclear and mitochondrial genomes. Thus genetic counselling for the mitochondrial disorders is extremely challenging. In this review, the classes of mitochondrial and nuclear defects that give rise to functional abnormalities of the mitochondrial respiratory chain are discussed, with specific instructive examples described in some detail.

Key words: genetics/mitochondria/mitochondrial disease/mitochondrial DNA/respiratory chain


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