caa a22 4500 475787013 CHVBK 20180406123701.0 cr unu---uuuuu 170329e20001201xx s 000 0 eng 10.1007/PL00014407 doi (NATIONALLICENCE)springer-10.1007/PL00014407 Naviaux Robert K. Department of Medicine, University of California, San Diego, The Mitochondrial and Metabolic Disease Center, 200 West Arbor Drive, San Diego, California 92103-8467, USA e-mail: naviaux@ucsd.edu Tel.: +1-619-5432105; Fax: +1-619-537868, US aut Mitochondrial DNA disorders [Elektronische Daten] [Robert K. Naviaux] Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. About 60% of the point mutations affect mitochondrial tRNAs, 35% affect polypeptide subunits of the respiratory chain, and 5% affect mitochondrial ribosomal RNAs. The clinical phenotypes of mitochondrial tRNA disease span the spectrum of all known oxidative phosphorylation disorders and include MELAS, MERRF, Leigh syndrome, PEO, deafness, diabetes, sideroblastic anemia, myoclonus, skeletal myopathy, cardiomyopathy, and renal tubular acidosis. Mutations in respiratory chain proteins encoded by mtDNA result in phenotypes ranging from exercise intolerance to blindness, ataxia, dystonia, dementia, and Leigh syndrome. Conclusion The primary disorders of oxidative phosphorylation are commonly associated with a delayed age of onset, organ selectivity, and an episodic, progressive course. Organ-specific, non-ATP related functions of mitochondria are discussed as important considerations in evaluating the pathogenesis of mitochondrial disease. Springer-Verlag Berlin Heidelberg, 2000 Key words Genetics nationallicence Mitochondria nationallicence Mitochondrial disease nationallicence Mitochondrial DNA nationallicence Mutations nationallicence https://doi.org/10.1007/PL00014407 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00014407 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Naviaux Robert K. Department of Medicine, University of California, San Diego, The Mitochondrial and Metabolic Disease Center, 200 West Arbor Drive, San Diego, California 92103-8467, USA e-mail: naviaux@ucsd.edu Tel.: +1-619-5432105; Fax: +1-619-537868, US aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer