caa a22 4500 469044799 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799605 doi (NATIONALLICENCE)springer-10.1007/BF01799605 Diseases resulting from mitochondrial DNA point mutations [Elektronische Daten] [D. Wallace, M. Lott, J. Shoffner, M. Brown] Summary: A number of mitochondrial DNA (mtDNA) mutations have been identified which cause familial, late onset neuromuscular degenerative diseases. These include missense mutations in most of the mtDNA polypeptide genes as well as base substitutions in several tRNA genes. Missense mutations in the mitochondrial electron-transport genes cause Leber hereditary optic neuropathy. Ten mutations have been associated with this disease, but four at nps 11 178, 3460, 4160 and 15 257 appear sufficient in themselves to cause the disease. One missense mutation in the ATPase 6 gene at np 8993 causes a second phenotype, neurogenic muscle weakness, ataxia and retinitis pigmentosum. Transfer RNA mutations have been identified for myoclonic epilepsy and ragged-red fibre disease in the tRNALys gene at np 8344 and for the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome and for maternal mitochondrial myopathy and cardiomyopathy syndrome in the tRNALeu(UUR) gene at nps 3234 and 3260, respectively. Deficiencies in mitochondrial oxidative phosphorylation enzymes have been observed in several common neurodegenerative diseases such as Alzheimer and Parkinson diseases. Perhaps mtDNA mutations play a role in these as well. SSIEM and Kluwer Academic Publishers, 1992 Wallace D. Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, 30322, Atlanta, GA, USA aut Lott M. Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, 30322, Atlanta, GA, USA aut Shoffner J. Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, 30322, Atlanta, GA, USA aut Brown M. Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, 30322, Atlanta, GA, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 472-479 0141-8955 15:4<472 1992 15 10545 https://doi.org/10.1007/BF01799605 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799605 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wallace D. Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, 30322, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Lott M. Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, 30322, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Shoffner J. Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, 30322, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Brown M. Department of Genetics and Molecular Medicine, Emory University School of Medicine, 3031 Rollins Research Center, 1510 Clifton Road, 30322, Atlanta, GA, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 472-479 0141-8955 15:4<472 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer