메뉴 건너뛰기




Volumn 57, Issue 4, 2013, Pages 438-443

Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure

Author keywords

DGUOK; Mitochondrial DNA depletion; Next generation sequencing; POLG; Valproate

Indexed keywords

MITOCHONDRIAL DNA;

EID: 84885292740     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31829ef4b4     Document Type: Article
Times cited : (19)

References (40)
  • 1
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68.
    • (2003) N Engl J Med , vol.348 , pp. 2656-2668
    • Dimauro, S.1    Schon, E.A.2
  • 2
    • 36348966712 scopus 로고    scopus 로고
    • Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
    • Wong LJ, Brunetti-Pierri N, Zhang Q, et al. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology 2007;46:1218-27.
    • (2007) Hepatology , vol.46 , pp. 1218-1227
    • Wong, L.J.1    Brunetti-Pierri, N.2    Zhang, Q.3
  • 3
    • 38949188752 scopus 로고    scopus 로고
    • Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
    • Dimmock DP, Zhang Q, Dionisi-Vici C, et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008;29:330-1.
    • (2008) Hum Mutat , vol.29 , pp. 330-331
    • Dimmock, D.P.1    Zhang, Q.2    Dionisi-Vici, C.3
  • 4
    • 84856257607 scopus 로고    scopus 로고
    • Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure
    • Goh V, Helbling D, Biank V, et al. Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr 2012;54:291-4.
    • (2012) J Pediatr Gastroenterol Nutr , vol.54 , pp. 291-294
    • Goh, V.1    Helbling, D.2    Biank, V.3
  • 5
    • 67651062419 scopus 로고    scopus 로고
    • De Novo mutations in POLG presenting with acute liver failure or encephalopathy
    • Lutz RE, Dimmock D, Schmitt E, et al. De Novo mutations in POLG presenting with acute liver failure or encephalopathy. J Pediatr Gastroenterol Nutr 2009;49:126-9.
    • (2009) J Pediatr Gastroenterol Nutr , vol.49 , pp. 126-129
    • Lutz, R.E.1    Dimmock, D.2    Schmitt, E.3
  • 6
    • 23644436319 scopus 로고    scopus 로고
    • Disorders of nuclear-mitochondrial intergenomic signaling
    • Spinazzola A, Zeviani M. Disorders of nuclear-mitochondrial intergenomic signaling. Gene 2005;354:162-8.
    • (2005) Gene , vol.354 , pp. 162-168
    • Spinazzola, A.1    Zeviani, M.2
  • 7
    • 34249811206 scopus 로고    scopus 로고
    • Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
    • Bourdon A, Minai L, Serre V, et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776-80.
    • (2007) Nat Genet , vol.39 , pp. 776-780
    • Bourdon, A.1    Minai, L.2    Serre, V.3
  • 8
    • 33947165311 scopus 로고    scopus 로고
    • SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
    • Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007;130:862-74.
    • (2007) Brain , vol.130 , pp. 862-874
    • Carrozzo, R.1    Dionisi-Vici, C.2    Steuerwald, U.3
  • 9
    • 18944390365 scopus 로고    scopus 로고
    • Deficiency of the ADPforming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
    • Elpeleg O, Miller C, Hershkovitz E, et al. Deficiency of the ADPforming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005;76:1081-6.
    • (2005) Am J Hum Genet , vol.76 , pp. 1081-1086
    • Elpeleg, O.1    Miller, C.2    Hershkovitz, E.3
  • 10
    • 33644526253 scopus 로고    scopus 로고
    • New mutations in TK2 gene associated with mitochondrial DNA depletion
    • Galbiati S, Bordoni A, Papadimitriou D, et al. New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol 2006;34:177-85.
    • (2006) Pediatr Neurol , vol.34 , pp. 177-185
    • Galbiati, S.1    Bordoni, A.2    Papadimitriou, D.3
  • 11
    • 35649024143 scopus 로고    scopus 로고
    • Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
    • Hakonen AH, Isohanni P, Paetau A, et al. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007;130:3032-40.
    • (2007) Brain , vol.130 , pp. 3032-3040
    • Hakonen, A.H.1    Isohanni, P.2    Paetau, A.3
  • 12
    • 33745713884 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
    • Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006;129:1674-84.
    • (2006) Brain , vol.129 , pp. 1674-1684
    • Horvath, R.1    Hudson, G.2    Ferrari, G.3
  • 13
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-92.
    • (1999) Science , vol.283 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 14
    • 34547736513 scopus 로고    scopus 로고
    • Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
    • Ostergaard E, Christensen E, Kristensen E, et al. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet 2007;81:383-7.
    • (2007) Am J Hum Genet , vol.81 , pp. 383-387
    • Ostergaard, E.1    Christensen, E.2    Kristensen, E.3
  • 15
    • 33947145697 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
    • Ostergaard E, Hansen FJ, Sorensen N, et al. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 2007;130:853-61.
    • (2007) Brain , vol.130 , pp. 853-861
    • Ostergaard, E.1    Hansen, F.J.2    Sorensen, N.3
  • 16
    • 37849003416 scopus 로고    scopus 로고
    • Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
    • Sarzi E, Goffart S, SerreV, et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007;62:579-87.
    • (2007) Ann Neurol , vol.62 , pp. 579-587
    • Sarzi, E.1    Goffart, S.2    Serrev3
  • 17
    • 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, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38:570-5.
    • (2006) Nat Genet , vol.38 , pp. 570-575
    • Spinazzola, A.1    Viscomi, C.2    Fernandez-Vizarra, E.3
  • 18
    • 57849140614 scopus 로고    scopus 로고
    • Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
    • Wong LJ, Naviaux RK, Brunetti-Pierri N, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008;29:E150-72.
    • (2008) Hum Mutat , vol.29
    • Wong, L.J.1    Naviaux, R.K.2    Brunetti-Pierri, N.3
  • 19
    • 68549101959 scopus 로고    scopus 로고
    • Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B
    • Shaibani A, Shchelochkov OA, Zhang S, et al. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol 2009;66:1028-32.
    • (2009) Arch Neurol , vol.66 , pp. 1028-1032
    • Shaibani, A.1    Shchelochkov, O.A.2    Zhang, S.3
  • 20
    • 33747188039 scopus 로고    scopus 로고
    • Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations
    • Freisinger P, Futterer N, Lankes E, et al. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol 2006;63:1129-34.
    • (2006) Arch Neurol , vol.63 , pp. 1129-1134
    • Freisinger, P.1    Futterer, N.2    Lankes, E.3
  • 21
    • 0035183256 scopus 로고    scopus 로고
    • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    • Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41.
    • (2001) Nat Genet , vol.29 , pp. 337-341
    • Mandel, H.1    Szargel, R.2    Labay, V.3
  • 22
    • 2142705756 scopus 로고    scopus 로고
    • POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
    • Naviaux RK, Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004;55:706-12.
    • (2004) Ann Neurol , vol.55 , pp. 706-712
    • Naviaux, R.K.1    Nguyen, K.V.2
  • 23
    • 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, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-2.
    • (2001) Nat Genet , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3
  • 24
    • 57849144280 scopus 로고    scopus 로고
    • Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
    • Dimmock DP, Dunn JK, Feigenbaum A, et al. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl 2008;14:1480-5.
    • (2008) Liver Transpl , vol.14 , pp. 1480-1485
    • Dimmock, D.P.1    Dunn, J.K.2    Feigenbaum, A.3
  • 25
    • 20844442462 scopus 로고    scopus 로고
    • POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
    • Van Goethem G, Luoma P, Rantamaki M, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004;63:1251-7.
    • (2004) Neurology , vol.63 , pp. 1251-1257
    • Van Goethem, G.1    Luoma, P.2    Rantamaki, M.3
  • 26
    • 80955158521 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase gamma mutations: An ever expanding molecular and clinical spectrum
    • Tang S,Wang J, Lee NC, et al. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet 2011;48:669-81.
    • (2011) J Med Genet , vol.48 , pp. 669-681
    • Tang, S.1    Wang, J.2    Lee, N.C.3
  • 27
    • 77649188407 scopus 로고    scopus 로고
    • POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
    • Saneto RP, Lee IC, Koenig MK, et al. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure 2010;19:140-6.
    • (2010) Seizure , vol.19 , pp. 140-146
    • Saneto, R.P.1    Lee, I.C.2    Koenig, M.K.3
  • 28
    • 77954371509 scopus 로고    scopus 로고
    • Quantitative evaluation of the mitochondrial DNA depletion syndrome
    • Dimmock D, Tang LY, Schmitt ES, et al. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem 2010;56:1119-27.
    • (2010) Clin Chem , vol.56 , pp. 1119-1127
    • Dimmock, D.1    Tang, L.Y.2    Schmitt, E.S.3
  • 29
    • 0032101829 scopus 로고    scopus 로고
    • Reversibility of hepatic mitochondrial damage in rats with long-term cholestasis
    • Krahenbuhl L, Schafer M, Krahenbuhl S. Reversibility of hepatic mitochondrial damage in rats with long-term cholestasis. J Hepatol 1998;28:1000-7.
    • (1998) J Hepatol , vol.28 , pp. 1000-1007
    • Krahenbuhl, L.1    Schafer, M.2    Krahenbuhl, S.3
  • 30
    • 78049516212 scopus 로고    scopus 로고
    • Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity
    • Stewart JD, Horvath R, Baruffini E, et al. Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology 2010;52:1791-6.
    • (2010) Hepatology , vol.52 , pp. 1791-1796
    • Stewart, J.D.1    Horvath, R.2    Baruffini, E.3
  • 31
    • 79953185821 scopus 로고    scopus 로고
    • Real-time quantitative PCR analysis of mitochondrial DNA content
    • Jan; Chapter 19: Unit 19.7. doi: 10.1002/0471142905.hg1907s68
    • Venegas V, Wang J, Dimmock D, et al. Real-time quantitative PCR analysis of mitochondrial DNA content. Curr Protoc Hum Genet 2011 Jan; Chapter 19: Unit 19.7. doi: 10.1002/0471142905.hg1907s68.
    • (2011) Curr Protoc Hum Genet
    • Venegas, V.1    Wang, J.2    Dimmock, D.3
  • 32
    • 4344579058 scopus 로고    scopus 로고
    • Hepato-cerebral syndrome: Genetic and pathological studies in an infant with a dGK mutation
    • Filosto M, Mancuso M, Tomelleri G, et al. Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation. Acta Neuropathol (Berl) 2004;108:168-71.
    • (2004) Acta Neuropathol (Berl) , vol.108 , pp. 168-171
    • Filosto, M.1    Mancuso, M.2    Tomelleri, G.3
  • 33
    • 33847739327 scopus 로고    scopus 로고
    • Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion
    • Mousson de Camaret B, Taanman JW, Padet S, et al. Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. Biochem J 2007;402:377-85.
    • (2007) Biochem J , vol.402 , pp. 377-385
    • Mousson De Camaret, B.1    Taanman, J.W.2    Padet, S.3
  • 34
    • 0036714964 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion and dGK gene mutations
    • Salviati L, Sacconi S, Mancuso M, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002;52:311-7.
    • (2002) Ann Neurol , vol.52 , pp. 311-317
    • Salviati, L.1    Sacconi, S.2    Mancuso, M.3
  • 35
    • 19944416258 scopus 로고    scopus 로고
    • Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria
    • Tadiboyina VT, Rupar A, Atkison P, et al. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am J Med Genet A 2005;135:289-91.
    • (2005) Am J Med Genet A , vol.135 , pp. 289-291
    • Tadiboyina, V.T.1    Rupar, A.2    Atkison, P.3
  • 36
    • 70849123789 scopus 로고    scopus 로고
    • Down-regulation of the Notch pathway mediated by a gamma-secretase inhibitor induces anti-tumour effects in mouse models of T-cell leukaemia
    • Tammam J, Ware C, Efferson C, et al. Down-regulation of the Notch pathway mediated by a gamma-secretase inhibitor induces anti-tumour effects in mouse models of T-cell leukaemia. Br J Pharmacol 2009; 158:1183-95.
    • (2009) Br J Pharmacol , vol.158 , pp. 1183-1195
    • Tammam, J.1    Ware, C.2    Efferson, C.3
  • 37
    • 84870180452 scopus 로고    scopus 로고
    • Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
    • Ronchi D, Garone C, Bordoni A, et al. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 2012;135:3404-15.
    • (2012) Brain , vol.135 , pp. 3404-3415
    • Ronchi, D.1    Garone, C.2    Bordoni, A.3
  • 38
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-9.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 39
    • 34247150665 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
    • e531-e536
    • Sarzi E, Bourdon A, Chretien D, et al. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 2007;150:531-4534 e531-e536.
    • (2007) J Pediatr , vol.150 , pp. 531-4534
    • Sarzi, E.1    Bourdon, A.2    Chretien, D.3
  • 40
    • 67651040573 scopus 로고    scopus 로고
    • Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure
    • Shieh JT, Berquist WE, Zhang Q, et al. Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure. J Pediatr Gastroenterol Nutr 2009; 49:130-2.
    • (2009) J Pediatr Gastroenterol Nutr , vol.49 , pp. 130-132
    • Shieh, J.T.1    Berquist, W.E.2    Zhang, Q.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.