Human Reproduction, Vol. 15, No. suppl_2, pp. 44-56, 2000
© 2000 European Society of Human Reproduction and Embryology
Organismal effects of mitochondrial dysfunction
Mitochondrial and Metabolic Disease Center, University of California San Diego, School of Medicine 200 West Arbor Drive, San Diego, CA 92103–8467, USA
Correspondence: 1To whom correspondence should be addressed at: Mitochondrial and Metabolic Disease Center, University of California, San Diego, School of Medicine 200 West Arbor Drive, San Diego, CA 92103–8467, USA. E-mail: naviaux{at}ucsd.edu
Mitochondrial disease can lead to clinical abnormalities in any organ system. Both inherited and spontaneous disorders are known. The spontaneous forms can occur as a mitochondrial DNA (mtDNA) mutation early in embryogenesis or, later in life, as somatic mutations that accumulate with age. The inherited forms may arise from any of >100 characterized mutations in mtDNA or from >200 nuclear gene defects that affect proteins required for mitochondrial function. Most dividing cells survive and interact normally despite their mitochondrial defects. Thus post-mitotic, terminally differentiated cells are preferentially affected in mitochondrial disease. This review emphasizes cellular metabolic co-operation and the structural and biochemical diversity of mitochondria as the framework for understanding the clinical spectrum of mitochondrial disease. The principles of the mitochondrial clinical assessment scale I (MCAS-I) are presented to assist in the development of diagnostic spectra of mitochondrial disease.
Key words: cellular metabolic co-operation/diagnosis/mitochondrial clinical assessment scale/mitochondrial disease/mitochondrial function