SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

Journal of Applied Genetics

Volumn 42, Issue 1, 2001, Pages 103-108

  Piekutowska Abramczuk, Dorota ^a   Popowska, Ewa ^a   Pronicka, Ewa ^a   Karczmarewicz, Elzbieta ^a   Pronicki, Maciej ^a   Kmieć, Tomasz ^a   Krajewska Walasek, Małgorzata ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

COX deficiency; Deletions; Leigh syndrome; Polymorphism; Substitution; SURF1 gene mutations

Indexed keywords

EID: 0007527895     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. ADAMS P.L., LIGHTOWLERS R.N., TURNBULL T.M. (1997). Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann. Neurol. 41(2): 268-270.
2. Di DONATO S. (2000). Disorders related to mitochondrial membranes: Pathology of the respiratory chain and neurodegeneration. J. Inherit. Metab. Dis. 23: 247-263.
3. Di MAURO S., de VIVO D.C. (1996). Genetic heterogeneity in Leigh syndrome. (Letter) Ann. Neurol. 40(1): 5-7.
4. HUMAN GENE MUTATION DATABASE, CARDIFF (2000). SURF1 gene mutation list. http://www.uwcm.ac.uk/uwcm/mg/search/120394.
5. JAKSCH M., HOFMANN S., KLEINLE S., LIECHTI-GALLATI S., PONGRATZ D.E., MULLER-HOCKER J., JEDELE K.B., METRINGER T., GERBITZ K.D. (1998). A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA (Ser) (UCN) mutations in a subgroup with syndromal encephalopathy. J. Med. Genet. 35: 895-900.
6. KARCZMAREWICZ E., BIELECKA L., KULCZYCKA H., LORENC L.S., PRONICKA E. (1997). Analytical reliability of spectrophotometric analysis of the activity of mitochondrial respiratory chain complexes in muscle homogenates. Diagn. Lab. 33: 493-503.
7. LEIGH D. (1951). Subacute necrotizing encephalomyelopathy in an infant. J. Neurol. Neurosurg. Psychiatry 14: 216-221.
8. MASHKEVICH G., REPETTO B., GLERUM D.M., JIN C., TZAGOLOFF A. (1997). SHY1, the yeast homolog of the mammalian SURF1 gene, encodes a mitochondrial protein required for respiration. J. Biol.Chem. 272:14356-14364.
9. MCKUSICK V.A. (1998). Mendelian inheritance in man. Catalogs of human genes and genetic disorders. Baltimore: Johns-Hopkins University Press. (12 edition).
10. PARFAIT B., PERCHERON A., CHRETIEN D., RUSTIN P., MUNNICH A., ROTIG A. (1997). No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency. Hum. Genet. 101: 247-250.
11. POYAU A., BUCHET K., BOUZIDI M.F., ZABOT M.-T., ECHENNE B., YAO J., SHOUBRIDGE E.A., GODINOT C. (2000). Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. Hum. Genet. 106:194-205.
12. SELIGMAN A.M., KARNOVSKY M.J., WASSERKRUG H.L., HANKER J.S. (1968). Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerising osmophilic reagent diaminobenzidine (DAB). J. Cell Biol. 38: 1-4.
13. SUE C.M., KARADIMAS C., CHECCARELLI N., TANJI K., PAPADOPOULOU L.C., PALLOTTI F., GUO F.L., SHANSKE S., HIRANO M., de VIVO D.C., van COSTER R., KAPLAN P., BONILLA E., Di MAURO S. (2000). Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO 2. Ann. Neurol. 47: 589-595.
14. TAANMAN J.W. (1997). Human cytochrome c oxidase: structure, function, and deficiency. J. Bioenerg. Biomembr. 29:151-163.
15. TIRANTI V., HOERTNAGEL K., CARROZZO R., GALIMBERTI C., MUNARO M., GRANATIERO M., ZELANTE L., GASPARINI P., MARZELLA R., ROCCHI M., BAYONA-BAFALUY P., ENRIQUEZ J-A, UZIEL G., BERTINI E., DIONISI-VICI C., FRANCO B., MEITINGER T., ZEVIANI M. (1998). Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 63: 609-1621.
16. TIRANTI V., JAKSCH M., HOFMANN S., GALIMBERTI C., HOURTNAGEL K., LULLI L., FREISINGER P., BINDOFF L., GERBITZ K.D., COMI G-P., UZIEL G., ZEVIANI M., MEITINGER T. (1999). Loss-of-function mutations of SURF-1 are specifically associated with cytochrome c oxidase deficiency. Ann. Neurol. 45: 787-790.
17. ZHU Z., YAO J., JOHNS T., FU K., de BIE I., MACMILLAN C., CUTHBERT A.P., NEWBOLD R.F., WANG J., CHEVRETTE M., BROWN G.K., BROWN R.M., SHOUBRIDGE E.A. (1998). SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet. 20: 337-343.