Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA

Brain

Volumn 128, Issue 4, 2005, Pages 723-731

  Ferrari, Gianfrancesco ^a   Lamantea, Eleonora ^a   Donati, Alice ^b   Filosto, Massimiliano ^c   Briem, Egill ^a   Carrara, Franco ^a   Parini, Rossella ^d   Simonati, Alessandro ^c   Sanier, René ^e   Zeviani, Massimo ^a,f  

^a National Neurological Institute   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

^d University Hospital   (Italy)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Alpers' hepatopathic poliodystrophy; Mitochondrial DNA polymerase; MtDNA depletion; POLG; Valproate toxicity

Indexed keywords

CARBAMAZEPINE; DNA DIRECTED DNA POLYMERASE GAMMA; DNA DIRECTED DNA POLYMERASE GAMMA A; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG; VALPROIC ACID; DNA DIRECTED DNA POLYMERASE; POLG PROTEIN, HUMAN;

ALLELE; ALPERS DISEASE; ARTICLE; ATAXIA; AUTOPSY; CLINICAL ARTICLE; DISEASE ASSOCIATION; ENZYME ACTIVE SITE; EPILEPSY; FATALITY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HEPATIC ENCEPHALOPATHY; HUMAN; INFANTILE HYPOTONIA; LIVER FAILURE; MALE; MITOCHONDRIAL DNA DISORDER; MYOCLONUS; NEUROLOGIC DISEASE; ONSET AGE; OPHTHALMOPLEGIA; POLG1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; BRAIN; CASE REPORT; DISEASE COURSE; GENETICS; INFANT; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; SCHILDER DISEASE;

BRAIN; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FATAL OUTCOME; FEMALE; HUMANS; INFANT; LIVER FAILURE; MAGNETIC RESONANCE IMAGING; MALE; MUTATION;

EID: 20144388894     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh410     Document Type: Article

References (40)

1. Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, et al Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 2003; 60: 1354-6.
2. Blackwood W, Buxton PH, Cumings JN, Robertson DJ, Tucker SM. Diffuse cerebral degeneration in infancy (Alpers' disease). Arch Dis Child 1963 38: 193-204.
3. Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, et al. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 2004; 1659: 136-47.
4. Di Fonzo A, Bordoni A, Crimi M, Galbiati S, Del Bo R, Bresolin N, et al. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat 2003; 22: 498-9.
5. Divi RL, Walker VE, Wade NA, Nagashima K, Seilkop SK, Adams ME et al. Mitochondrial damage and DNA depletion in cord blood and umbilical cord from infants exposed in utero to combivir. AIDS 2004; 18: 1013-21.
6. Filosto M, Mancuso M, Tomelleri G, Rizzuto N, Dalla Bernardina B, Di Mauro S, et al. Hepato-cerebral syndrome: genetic and pathologica studies in an infant with a dGK mutation. Acta Neuropathol 2004; 108: 168-71.
7. Flemming K, Ulmer S, Duisberg B, Hahn A, Jansen O. MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome. AJNR Am J Neuroradiol 2002; 23: 1421-3.
8. Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol 2004; 11: 770-6.
9. He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, et al. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res 2002; 30: e68.
10. Huttenlocher PR, Solitare GB, Adams G. Infantile diffuse cerebral degeneration with hepatic cirrhosis. Arch Neurol 1976; 33: 186-92.
11. Janes MS, Hanson BJ, Hill DM, Buller GM, Agnew JY, Sherwood SW, et al. Rapid analysis of mitochondrial DNA depletion by fluorescence in situ hybridization and immunocytochemistry: potential strategies for HIV therapeutic monitoring. J Histochem Cytochem 2004; 52: 1011-8.
12. Jazayeri M, Andreyev A, Will Y, Ward M, Anderson CM, Clevenger W. Inducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype. J Biol Chem 2003; 278: 9823-30.
13. Lamantea E, Zeviani M. Sequence analysis of familial PEO shows additional mutations associated with the 752C→T and 3527C→T changes in the POLG1 gene. Ann Neurol 2004; 56: 454-5.
14. Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, et al. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002; 52: 211-9.
15. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Lancet 2004; 364: 875-82.
16. Mancuso M, Salviati L, Sacconi S, Otaegui D, Camano P, Marina A, et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002; 59: 1197-202.
17. 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 2001; 29: 337-41.
18. Moslemi AR, Melberg A, Holme E, Oldfors A. Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. Neurology 1999; 53: 79-84.
19. Naviaux RK and Nguyen KV. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 2004; 55: 706-12.
20. Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, et al. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol 1999; 45: 54-8.
21. Ponomarev MV, Longley MY, Nguyen D, Kunkel TA, and Copeland WC. Active site mutations in DNA polymerase γ associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. J Biol Chem 2002; 277: 15225-8.
22. Ropp PA, Copeland WC. Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. Genomics 1996; 36: 449-58.
23. Rovio AT, Marchington DR, Donat S, Schuppe HC, Abel J, Pritsche E, et al. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet 2001; 29: 261-2.
24. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001; 29: 342-4.
25. Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, et al. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 1991; 41: 1053-9.
26. Simonati A, Filosto M, Savio C, Tomellieri G, Tonin P, Dalla Bernardina B, et al. Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease). Acta Neuropathol 2003a; 106: 57-65.
27. Simonati A, Filosto M, Tomelleri G, Savio C, Tonin P, Polo A, et al. Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease. J Neurol 2003b; 250: 702-6.
28. Suomalainen A, Majander A, Haltia M, Somer H, Lonnqvist J, Savontaus ML, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992; 90: 61-6.
29. Tesarova M, Mayr JA, Wenchich L, Hansikova H, Elleder M, Blahova K, et al. Mitochondrial DNA depletion in Alpers syndrome. Neuropediatrics 2004; 35: 217-23.
30. Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 2004; 429: 417-23.
31. Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28: 211-2.
32. Van Goethem G, Martin JJ, 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 2003a; 13: 133-42.
33. Van Goethem G, Lofgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Hum Mutat 2003b; 22: 175-6.
34. Van Goethem G, Luoma P, Rantamaki M, Al Memar A, Kaakkola S, Hackman P, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004; 63: 1251-7.
35. von Wurmb-Schwark N, Higuchi R, Fenech AP, Elfstroem C, Meissner C, Oehmichen M, et al. Quantification of human mitochondrial DNA in a real time PCR. Forensic Sei Int 2002; 126: 34-9.
36. Walker UA, Bauerle J, Laguno M, Murillas J, Mauss S, Schmutz G, et al. Depletion of mitochondrial DNA in liver under antiretroviral therapy with didanosine, stavudine, or zalcitabine. Hepatology 2004; 39: 311-7.
37. Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations. Neurology. In press 2005.
38. Wright DK, Manos MM. Sample preparation from paraffin-embedded tissues. In: Innis MA, Gelfand DH, Sninsky JJ, White TJ, editors. PCR protocols. San Diego: Academic Press; 1990. p. 153-8.
39. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309-11.
40. Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47: 904-14.