메뉴 건너뛰기




Volumn 150, Issue 5, 2007, Pages

Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYGUANOSINE KINASE; DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; THYMIDINE KINASE; THYMIDINE KINASE 2; UNCLASSIFIED DRUG;

EID: 34247150665     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2007.01.044     Document Type: Article
Times cited : (146)

References (23)
  • 1
    • 0026015896 scopus 로고
    • mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases
    • Moraes C.T., Shanske S., Tritschler H.J., Aprille J.R., Andreetta F., Bonilla E., et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet 48 (1991) 492-501
    • (1991) Am J Hum Genet , vol.48 , pp. 492-501
    • Moraes, C.T.1    Shanske, S.2    Tritschler, H.J.3    Aprille, J.R.4    Andreetta, F.5    Bonilla, E.6
  • 2
    • 0035183256 scopus 로고    scopus 로고
    • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    • Mandel H., Szargel R., Labay V., Elpeleg O., Saada A., Shalata A., et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29 (2001) 337-341
    • (2001) Nat Genet , vol.29 , pp. 337-341
    • Mandel, H.1    Szargel, R.2    Labay, V.3    Elpeleg, O.4    Saada, A.5    Shalata, A.6
  • 3
    • 0035179561 scopus 로고    scopus 로고
    • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
    • Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., and Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 29 (2001) 342-344
    • (2001) Nat Genet , vol.29 , pp. 342-344
    • Saada, A.1    Shaag, A.2    Mandel, H.3    Nevo, Y.4    Eriksson, S.5    Elpeleg, O.6
  • 4
    • 2142705756 scopus 로고    scopus 로고
    • POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion
    • Naviaux R.K., and Nguyen K.V. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Ann Neurol 55 (2004) 706-712
    • (2004) Ann Neurol , vol.55 , pp. 706-712
    • Naviaux, R.K.1    Nguyen, K.V.2
  • 5
    • 18944390365 scopus 로고    scopus 로고
    • Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
    • Elpeleg O., Miller C., Hershkovitz E., Bitner-Glindzicz M., Bondi-Rubinstein G., Rahman S., et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76 (2005) 1081-1086
    • (2005) Am J Hum Genet , vol.76 , pp. 1081-1086
    • Elpeleg, O.1    Miller, C.2    Hershkovitz, E.3    Bitner-Glindzicz, M.4    Bondi-Rubinstein, G.5    Rahman, S.6
  • 6
    • 33646376465 scopus 로고    scopus 로고
    • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    • Spinazzola A., Viscomi C., Fernandez-Vizarra E., Carrara F., D'Adamo P., Calvo S., et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 38 (2006) 570-575
    • (2006) Nat Genet , vol.38 , pp. 570-575
    • Spinazzola, A.1    Viscomi, C.2    Fernandez-Vizarra, E.3    Carrara, F.4    D'Adamo, P.5    Calvo, S.6
  • 8
    • 0038298320 scopus 로고    scopus 로고
    • Quantitation of blood lymphocyte mitochondrial DNA for the monitoring of antiretroviral drug-induced mitochondrial DNA depletion
    • Petit C., Mathez D., Barthelemy C., Leste-Lasserre T., Naviaux R.K., Sonigo P., et al. Quantitation of blood lymphocyte mitochondrial DNA for the monitoring of antiretroviral drug-induced mitochondrial DNA depletion. J Acquir Immune Defic Syndr 33 (2003) 461-469
    • (2003) J Acquir Immune Defic Syndr , vol.33 , pp. 461-469
    • Petit, C.1    Mathez, D.2    Barthelemy, C.3    Leste-Lasserre, T.4    Naviaux, R.K.5    Sonigo, P.6
  • 9
    • 33746381946 scopus 로고    scopus 로고
    • Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
    • Naimi M., Bannwarth S., Procaccio V., Pouget J., Desnuelle C., Pellissier J.F., et al. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. Eur J Hum Genet 14 (2006) 917-922
    • (2006) Eur J Hum Genet , vol.14 , pp. 917-922
    • Naimi, M.1    Bannwarth, S.2    Procaccio, V.3    Pouget, J.4    Desnuelle, C.5    Pellissier, J.F.6
  • 10
    • 33747188039 scopus 로고    scopus 로고
    • Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations
    • Freisinger P., Futterer N., Lankes E., Gempel K., Berger T.M., Spalinger J., et al. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol 63 (2006) 1129-1134
    • (2006) Arch Neurol , vol.63 , pp. 1129-1134
    • Freisinger, P.1    Futterer, N.2    Lankes, E.3    Gempel, K.4    Berger, T.M.5    Spalinger, J.6
  • 11
    • 0030817294 scopus 로고    scopus 로고
    • Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
    • Cormier-Daire V., Chretien D., Rustin P., Rotig A., Dubuisson C., Jacquemin E., et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr 130 (1997) 817-822
    • (1997) J Pediatr , vol.130 , pp. 817-822
    • Cormier-Daire, V.1    Chretien, D.2    Rustin, P.3    Rotig, A.4    Dubuisson, C.5    Jacquemin, E.6
  • 12
    • 0037015695 scopus 로고    scopus 로고
    • Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size
    • Gellerich F.N., Deschauer M., Chen Y., Muller T., Neudecker S., and Zierz S. Mitochondrial respiratory rates and activities of respiratory chain complexes correlate linearly with heteroplasmy of deleted mtDNA without threshold and independently of deletion size. Biochim Biophys Acta 1556 (2002) 41-52
    • (2002) Biochim Biophys Acta , vol.1556 , pp. 41-52
    • Gellerich, F.N.1    Deschauer, M.2    Chen, Y.3    Muller, T.4    Neudecker, S.5    Zierz, S.6
  • 13
    • 33745713884 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
    • Horvath R., Hudson G., Ferrari G., Futterer N., Ahola S., Lamantea E., et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129 (2006) 1674-1684
    • (2006) Brain , vol.129 , pp. 1674-1684
    • Horvath, R.1    Hudson, G.2    Ferrari, G.3    Futterer, N.4    Ahola, S.5    Lamantea, E.6
  • 14
    • 20144388894 scopus 로고    scopus 로고
    • Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma A
    • Ferrari G., Lamantea E., Donati A., Filosto M., Briem E., Carrara F., et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gamma A. Brain 128 (2005) 723-731
    • (2005) Brain , vol.128 , pp. 723-731
    • Ferrari, G.1    Lamantea, E.2    Donati, A.3    Filosto, M.4    Briem, E.5    Carrara, F.6
  • 16
    • 21844449982 scopus 로고    scopus 로고
    • Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
    • Labarthe F., Dobbelaere D., Devisme L., De Muret A., Jardel C., Taanman J.W., et al. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. J Hepatol 43 (2005) 333-341
    • (2005) J Hepatol , vol.43 , pp. 333-341
    • Labarthe, F.1    Dobbelaere, D.2    Devisme, L.3    De Muret, A.4    Jardel, C.5    Taanman, J.W.6
  • 17
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem G., Dermaut B., Lofgren A., Martin J.J., and Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28 (2001) 211-212
    • (2001) Nat Genet , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.J.4    Van Broeckhoven, C.5
  • 18
    • 23944508509 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
    • Hakonen A.H., Heiskanen S., Juvonen V., Lappalainen I., Luoma P.T., Rantamaki M., et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77 (2005) 430-441
    • (2005) Am J Hum Genet , vol.77 , pp. 430-441
    • Hakonen, A.H.1    Heiskanen, S.2    Juvonen, V.3    Lappalainen, I.4    Luoma, P.T.5    Rantamaki, M.6
  • 19
    • 0037306061 scopus 로고    scopus 로고
    • Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
    • Van Goethem G., Martin J.J., Dermaut B., Lofgren A., Wibail A., Ververken D., et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13 (2003) 133-142
    • (2003) Neuromuscul Disord , vol.13 , pp. 133-142
    • Van Goethem, G.1    Martin, J.J.2    Dermaut, B.3    Lofgren, A.4    Wibail, A.5    Ververken, D.6
  • 20
    • 4544273256 scopus 로고    scopus 로고
    • Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study
    • Luoma P., Melberg A., Rinne J.O., Kaukonen J.A., Nupponen N.N., Chalmers R.M., et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 364 (2004) 875-882
    • (2004) Lancet , vol.364 , pp. 875-882
    • Luoma, P.1    Melberg, A.2    Rinne, J.O.3    Kaukonen, J.A.4    Nupponen, N.N.5    Chalmers, R.M.6
  • 21
    • 0035185070 scopus 로고    scopus 로고
    • Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
    • Rovio A.T., Marchington D.R., Donat S., Schuppe H.C., Abel J., Fritsche E., et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 29 (2001) 261-262
    • (2001) Nat Genet , vol.29 , pp. 261-262
    • Rovio, A.T.1    Marchington, D.R.2    Donat, S.3    Schuppe, H.C.4    Abel, J.5    Fritsche, E.6
  • 23
    • 0035130580 scopus 로고    scopus 로고
    • Leigh syndrome in an infant resulting from mitochondrial DNA depletion
    • Absalon M.J., Harding C.O., Fain D.R., Li L., and Mack K.J. Leigh syndrome in an infant resulting from mitochondrial DNA depletion. Pediatr Neurol 24 (2001) 60-63
    • (2001) Pediatr Neurol , vol.24 , pp. 60-63
    • Absalon, M.J.1    Harding, C.O.2    Fain, D.R.3    Li, L.4    Mack, K.J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.