Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease

Annals of Neurology

Volumn 43, Issue 1, 1998, Pages 110-116

  Comi, Giacomo P ^a,e   Bordoni, Andreina ^a   Salani, Sabrina ^a   Franceschina, Liliana ^a   Sciacco, Monica ^a   Prelle, Alessandro ^a   Fortunato, Francesco ^a   Zeviani, Massimo ^b,c   Napoli, Laura ^a   Bresolin, Nereo ^a   Moggio, Maurizio ^a   Ausenda, Carlo D ^a   Taanman, Jan Willem ^d   Scarlato, Guglielmo ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; OXYGEN RADICAL;

ADULT; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; ENZYME SUBUNIT; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MALE; MOTOR NEURON DISEASE; OXIDATIVE PHOSPHORYLATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; BASE SEQUENCE; BRAIN; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; GENE DELETION; HISTOCYTOCHEMISTRY; HUMANS; IMMUNOHISTOCHEMISTRY; ISOENZYMES; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MOTOR NEURON DISEASE; MUSCLES; NUCLEIC ACID HETERODUPLEXES; POLYMERASE CHAIN REACTION;

EID: 0031915174     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430119     Document Type: Article

References (21)

1. Capaldi RA. Structure and function of cytochrome c oxidase. Annu Rev Biochem 1990;59:569-596
2. Morgan-Hughes JA. Mitochondrial diseases. In: Engel AG, Franzini-Amstrong C, eds. Myology. 2nd ed. New York: McGraw-Hill, 1996:1610-1660
3. Keightley JA, Hoffbuhr KC, Burton MD, et al. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet 1996; 12:410-416
4. Dubowitz V. Muscle biopsy: a practical approach. 2nd ed. London: Bailliere Tindall, 1985
5. Sottocasa GL, Kuylenstierna B, Ernster L, Bergstrand A. An electron transfer system associated with the outer membrane of the mitochondria. J Cell Biol 1969;32:415-438
6. King TE, Howard RI. Preparation of succinate dehydrogenase and reconstitution of succinate oxidase. Methods Enzymol 1969;10:322-331
7. Srere PA. Citrate synthase. Methods Enzymol 1969;13:3-11
8. Tritschler H-J, Andreetta F, Moraes CT, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology 1992;42:209-217
9. Zeviani M, Bresolin N, Gellera C, et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47:904-914
10. Leu(UUR) gene an etiologic hot spot? J Clin Invest 1993;92:2906-2915
11. Leu(UUR) mutation in MELAS: genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992;50:934-949
12. Yulug IG, Katsanis N, de Belleroche J, et al. An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. Hum Mol Genet 1995;4:1101-1104
13. Schon EA, Rizzuto R, Moraes CT, et al. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989;244:346-349
14. Cortopassi G, Wang E. Modelling the effects of age-related mtDNA mutation accumulation: complex I, superoxide and cell death. Biochem Biophys Acta 1995;1271:171-176
15. Morse M-C, Bleau G, Dabhi VM, et al. The COI mitochondrial gene encodes a minor histocompatibility antigen presented by H2M3. J Immunol 1996;156:3301-3307
16. Pitkanen S, Robinson BH. Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. J Clin Invest 1996;98:345-351
17. Mitsui T, Kawai H, Nagasawa M, et al. Oxidative damage to skeletal muscle DNA from patients with mitochondrial encephalomyopathies. J Neurol Sci 1996;139:111-116
18. Zamzami N, Marchetti P, Castedo M, et al. Sequential reduction of mitochondrial transmembrane potential and generation of reactivive oxygen species in early programmed cell death. J Exp Med 1995;182:367-377
19. Greenlund LJS, Deckwerth TL, Johnson EM. Superoxide dismutase delays neuronal apoptosis: a role of reactive oxygen species in programmed neuronal death. Neuron 1995;14:303-315
20. Wiedau-Pazos M, Goto JJ, Rabizadeh S, et al. Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 1996;271:515-518
21. Goodin DS, Rowley HA, Olney RK. Magnetic resonance imaging in amyotrophic lateral sclerosis. Ann Neurol 1988;23: 418-420