Liver failure associated with mitochondrial DNA depletion

Journal of Hepatology

Volumn 28, Issue 4, 1998, Pages 556-563

  Morris, Andrew A M ^c   Taanman, Jan Willem ^c   Blake, Julian ^c   Mark Cooper, J ^c   Lake, Brian D ^a   Malone, Marion ^a   Love, Seth ^b   Clayton, Peter T ^c   Leonard, James V ^c   Schapira, Anthony H V ^c  

^a ROYAL FREE HOSPITAL   (United Kingdom)

^b FRENCHAY HOSPITAL   (United Kingdom)

^c NONE

Author keywords

Cataracts; Cytochrome oxidase; Hypoglycemia; Leigh syndrome; Liver failure; Mitochondrial DNA depletion

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CATARACT; CHILD; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; ENZYME ACTIVITY; FEMALE; HISTOCHEMISTRY; HUMAN; HUMAN CELL; HYPOGLYCEMIA; LEIGH DISEASE; LIVER FAILURE; MALE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; RESPIRATORY TRACT DISEASE;

EID: 0031971261     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(98)80278-X     Document Type: Article

References (23)

1. Cormier-Daire V, Chretien D, Rustin P, Rötig A, Dubuisson C, Jacquemin E, et al. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. J Pediatr. 130:1997;817-822.
2. Rötig A, Cormier V, Blanche S, Bonnefont J-P, Ledeist F, Romero N, et al. Pearson's marrow-pancreas syndrome, a multisystem mitochondrial disorder in infancy. J Clin Invest. 86:1990;1601-1608.
3. Moraes CT, Shanske S, Tritschler H-J, Aprille JR, 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.
4. Morris AAM, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol. 40:1996;25-30.
5. Taanman J-W, Bodnar AG, Cooper JM, Morris AAM, Clayton PT, Leonard JV, et al. Molecular mechanisms in mitochondrial DNA depletion syndrome. Hum Mol Genet. 6:1997;935-942.
6. Seligman AM, Karnovsky MJ, Wasserkrug HL, Hanker JS. Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol. 38:1968;1-14.
7. Sambrook J, Fritsch EF, Maniatis T. 2nd ed. Molecular Cloning: a Laboratory Manual. 1989;Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
8. Welter C, Dooley S, Blin N. A rapid protocol for the purification of mitochondrial DNA suitable for studying restriction fragment length polymorphisms. Gene. 83:1989;169-172.
9. Poulton J, Sewry C, Potter CG, Bougeron T, Chretien D, Wijburg FA, et al. Variation in mitochondrial DNA levels in muscle from normal controls - is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inherit Metab Dis. 18:1995;4-20.
10. Macmillan CJ, Shoubridge EA. Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation. Pediatr Neurol. 14:1996;203-210.
11. Heerdt BJ, Augenlicht LH. Changes in the number of mitochondrial genomes during human development. Exp Cell Res. 186:1990;54-59.
12. Marin-Garcia J, Ananthakrishnan R, Agrawal N, Goldenthal MJ. Mitochondrial gene expression during bovine cardiac growth and development. J Molec Cell Cardiol. 26:1994;1029-1036.
13. Mazziotta MR, Ricci E, Bertini E, Dionisi Vici C, Servidei S, et al. Fatal infantile liver failure associated with mitochondrial DNA depletion. J Pediatr. 121:1992;896-901.
14. Maaswinkel-Mooij P, Van den Bogert C, Scholte H, Onkehout W, Brederoo P, Poorthuis BJ. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J Pediatr. 128:1996;679-683.
15. Bakker H, Scholte H, Dingemans K, Spelbrink J, Wijburg FA, Van den Bogert C. Depletion of mitochondrial DNA in a family with fatal neonatal liver disease. J Pediatr. 128:1996;683-687.
16. Bodnar AG, Cooper JM, Holt IJ, Leonard JV, Schapira AH. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am J Hum Genet. 53:1993;663-669.
17. Tritschler HJ, Andreetta F, Moraes CT, Bonilla E, Arnaudo E, Danon MJ, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology. 42:1992;209-217.
18. Mariotti C, Uziel G, Mora M, Prelle A, Tiranti V, DiDonato S, et al. Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J Neurol. 242:1995;547-556.
19. Paquis-Flucklinger V, Pellissier JF, Camboulives J, Chabrol B, Saunieres A, Monfort MF, et al. Early-onset encephalomyopathy associated with severe mtDNA depletion. Eur J Pediatr. 154:1995;557-562.
20. Pitkänen S, Merante F, McLeod D, Applegarth D, Tong T, Robinson B. Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I of the mitochondria respiratory chain. Pediatr Res. 39:1996;513-521.
21. Freckmann M-L, Thorburn DR, Kirby DM, Kamath KR, Hammond J, Dennett X, et al. Mitochondrial electron transport chain defect presenting as hypoglycaemia. J Pediatr. 130:1997;431-436.
22. Telerman-Toppet N, Biarent D, Bouton J-M, de Meirleir L, Elmer C, Noel S, et al. Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts. J Inher Metab Dis. 15:1992;323-326.
23. Goncalves I, Hermans D, Chretien D, Rustin P, Munnich A, Saudubray J-M, et al. Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency. J Hepatol. 23:1995;290-294.