Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-78c5997874-xbtfd Total loading time: 0 Render date: 2024-11-09T14:48:26.016Z Has data issue: false hasContentIssue false

Chapter 35 - Mitochondrial hepatopathies

from Section IV - Metabolic liver disease

Published online by Cambridge University Press:  05 March 2014

By
Ronald J. Sokol
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Ronald J. Sokol
Affiliation:
University of Colorado Medical Center
Frederick J. Suchy
Affiliation:
University of Colorado Medical Center
Ronald J. Sokol
Affiliation:
University of Colorado Medical Center
William F. Balistreri
Affiliation:
University of Cincinnati College of Medicine
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Liver Disease in Children , pp. 603 - 630
Publisher: Cambridge University Press
Print publication year: 2014

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Koopman, WJH, Willems, PHGM, Smeitink, JAM. Monogenic mitochondrial disorders, N Engl J Med 2012;366:1132–1141.CrossRefGoogle ScholarPubMed
Lee, WS, Sokol, RJ. Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology 2007;45:1555–1565.CrossRefGoogle ScholarPubMed
Beal, MF, Hyman, BT, Koroshetz, W. Do defects in mitochondrial energy metabolism underlie the pathology of neurodegenerative diseases?Trends Neurosci 1993;16:125–131.CrossRefGoogle ScholarPubMed
Wong, LJ. Molecular genetics of mitochondrial disorders. Dev Disabil Res Rev 2010;16:154–162.CrossRefGoogle ScholarPubMed
Taanman, JW. The mitochondrial genome: structure, transcription, translation and replication. Biochim Biophys Acta 1999;1410:103–123.CrossRefGoogle Scholar
Lightowlers, RN, Chinnery, PF, Turnbull, DM, Howell, N. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet 1997;13:450–455.CrossRefGoogle ScholarPubMed
Pagliarini, DJ, Calvo, SE, Chang, B, et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell 2008;134:112–123.CrossRefGoogle ScholarPubMed
Efremov, RG, Sazanov, LA. Respiratory complex I: “steam engine” of the cell?Curr Opin Structural Biol 2011;21:532–540.CrossRefGoogle ScholarPubMed
Holt, IJ, Harding, AE, Morgan-Hughes, JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331(6158):717–719.CrossRefGoogle ScholarPubMed
Wallace, DC, Singh, G, Lott, MT, et al. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 1988;242(4884):1427–1430.CrossRefGoogle ScholarPubMed
Skladal, D, Halliday, J, Thorburn, DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003;126(Pt 8):1905–1912.CrossRefGoogle ScholarPubMed
Majamaa, K, Moilanen, JS, Uimonen, S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of themutation in an adult population. Am J Hum Genet 1998;63:447–454.CrossRefGoogle Scholar
Chinnery, PF, Johnson, MA, Wardell, TM, et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 2000;48:188–193.3.0.CO;2-P>CrossRefGoogle ScholarPubMed
Uusimaa, J, Remes, AM, Rantala, H, et al. Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders. Pediatrics 2000;105:598–603.CrossRefGoogle Scholar
Darin, N, Oldfors, A, Moslemi, AR, et al. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. Ann Neurol 2001;49:377–383.CrossRefGoogle Scholar
Gillis, LA, Sokol, RJ. Gastrointestinal manifestations of mitochondrial disease. Gastroenterol Clin North Am 2003;32:789–817.CrossRefGoogle ScholarPubMed
Wong, LJ, Scaglia, F, Graham, BH, Craigen, WJ. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab 2010;100:111–117.CrossRefGoogle ScholarPubMed
Bindoff, LA, Engelsen, BA. Mitochondrial diseases and epilepsy. Epilepsia 2012;53(Suppl 4):92–97.CrossRefGoogle ScholarPubMed
Wong, LJ. Mitochondrial syndromes with leukoencephalopathies. Semin Neurol 2012;32:55–61.Google ScholarPubMed
Finsterer, J. Inherited mitochondrial disorders. Adv Exp Med Biol 2012;942:187–213.CrossRefGoogle ScholarPubMed
Treem, WR, Sokol, RJ. Disorders of the mitochondria. Semin Liver Dis 1998;18:237–253.CrossRefGoogle ScholarPubMed
Leonard, JV, Schapira, AH. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 2000;355:299–304.CrossRefGoogle ScholarPubMed
Leonard, JV, Schapira, AH. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 2000;355:389–394.CrossRefGoogle ScholarPubMed
Fellman, V, Kotarsky, H. Mitochondrial hepatopathies in the newborn period. Semin Fetal Neonatal Med 2011;16:222–228.CrossRefGoogle ScholarPubMed
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;29:330–331.CrossRefGoogle ScholarPubMed
Pronicka, E, Weglewska-Jurkiewicz, A, Taybert, J, et al. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. J Applied Genet 2011;52:61–66.CrossRefGoogle ScholarPubMed
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–E172.CrossRefGoogle ScholarPubMed
El-Hattab, AW, Scaglia, F, Craigen, WJ, Wong, LJC. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. In Pagon, RA, Bird, TD, Dolan, CR, Stephens, K (eds.) GeneReviews. Seattle, WA: University of Washington, Seattle, 1993–.Google ScholarPubMed
Finsterer, J, Zarrouk Mahjoub, S. Mitochondrial toxicity of antiepileptic drugs and their tolerability in mitochondrial disorders. Expert Opin Drug Metab Toxicol 2012;8:71–79.CrossRefGoogle ScholarPubMed
Milone, M, Massie, R. Polymerase gamma 1 mutations: clinical correlations. The Neurologist 2010;16:84–91.CrossRefGoogle ScholarPubMed
Horvath, R, Hudson, G, Ferrari, G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006;129:1674–1684.CrossRefGoogle ScholarPubMed
Narkewicz, MR, Sokol, RJ, Beckwith, B, et al. Liver involvement in Alpers disease. J Pediatr 1991;119:260–267.CrossRefGoogle ScholarPubMed
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;19:140–146.CrossRefGoogle ScholarPubMed
Ferrari, G, Lamantea, E, Donati, A, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005;128(Pt 4):723–731.CrossRefGoogle ScholarPubMed
Nguyen, KV, Sharief, FS, Chan, SS, Copeland, WC, Naviaux, RK. Molecular diagnosis of Alpers syndrome. J Hepatol 2006;45:108–116.CrossRefGoogle ScholarPubMed
Hudson, G, Chinnery, PF. Mitochondrial DNA polymerase-gamma and human disease. Hum Mol Genet. 2006;15:R244–R252.CrossRefGoogle ScholarPubMed
Pearson, HA, Lobel, JS, Kocoshis, SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979;95:976–984.CrossRefGoogle ScholarPubMed
Morikawa, Y, Matsuura, N, Kakudo, K, et al. Pearson’s marrow/pancreas syndrome: a histological and genetic study. Virchows Arch A Pathol Anat Histopathol 1993;423:227–231.CrossRefGoogle ScholarPubMed
Cormier-Daire, V, Bonnefont, JP, Rustin, P, et al. Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr 1994;124:63–70.CrossRefGoogle ScholarPubMed
Garone, C, Tadesse, S, Hirano, M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2011;134:3326–3332.CrossRefGoogle ScholarPubMed
Giordano, C, d’Amati, G. Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Meth Mol Biol 2011;755:223–232.CrossRefGoogle Scholar
Hirano, M, Garone, C, Quinzii, CM. CoQ10 deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim Biophys Acta 2012:1820:625–631.CrossRefGoogle ScholarPubMed
Hirano, M, Silvestri, G, Blake, DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994;44:721–727.CrossRefGoogle ScholarPubMed
Hirano, M, Vu, TH. Defects of intergenomic communication: where do we stand? Brain Pathol 2000;10:451–461.CrossRefGoogle ScholarPubMed
Teitelbaum, JE, Berde, CB, Nurko, S, et al. Diagnosis and management of MNGIE syndrome in children: case report and review of the literature. J Pediatr Gastroenterol Nutr 2002;35:377–383.CrossRefGoogle ScholarPubMed
Giordano, C, Sebastiani, M, Plazzi, G, et al. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. Gastroenterology 2006;130:893–901.CrossRefGoogle ScholarPubMed
Holve, S, Hu, D, Shub, M, Tyson, RW, Sokol, RJ. Liver disease in Navajo neuropathy. J Pediatr 1999;135:482–493.CrossRefGoogle ScholarPubMed
Karadimas, CL, Vu, TH, Holve, SA, et al. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006;79:544–548.CrossRefGoogle ScholarPubMed
Spiekerkoetter, U. Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. J Inherit Metab Dis 2010;33:527–532.CrossRefGoogle ScholarPubMed
Enns, GM, Bennett, MJ, Hoppel, CL, et al. Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr 2000;136:251–254.CrossRefGoogle ScholarPubMed
Browning, MF, Levy, HL, Wilkins-Haug, LE, Larson, C, Shih, VE. Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. Obstet Gynecol 2006;107:115–120.CrossRefGoogle ScholarPubMed
Partin, JC. Reye’s syndrome. In Suchy, F (ed.) Liver Disease in Children. St. Louis, MO: Mosby, 1994, pp. 653–671.Google Scholar
Sternlieb, I, Feldmann, G. Effects of anticopper therapy on hepatocellular mitochondria in patients with Wilson’s disease: an ultrastructural and stereological study. Gastroenterology 1976;71:457–461.Google ScholarPubMed
Sternlieb, I. Mitochondrial and fatty changes in hepatocytes of patients with Wilson’s disease. Gastroenterology 1968;55:354–367.Google ScholarPubMed
Mansouri, A, Gaou, I, Fromenty, B, et al. Premature oxidative aging of hepatic mitochondrial DNA in Wilson’s disease. Gastroenterology 1997;113:599–605.CrossRefGoogle ScholarPubMed
Scatena, R. Mitochondria and drugs. Adv Exp Med Biol 2012;942:329–346.CrossRefGoogle ScholarPubMed
Pessayre, D, Fromenty, B, Berson, A, et al. Central role of mitochondria in drug-induced liver injury. Drug Metab Rev 2012;44:34–87.CrossRefGoogle ScholarPubMed
Manzo-Avalos, S, Saavedra-Molina, A. Cellular and mitochondrial effects of alcohol consumption. Int J Environ Res Public Health 2010;7:4281–4304.CrossRefGoogle ScholarPubMed
McKenzie, R, Fried, MW, Sallie, R, et al. Hepatic failure and lactic acidosis due to fialuridine (FIAU), an investigational nucleoside analogue for chronic hepatitis B. N Engl J Med 1995;333:1099–1105.CrossRefGoogle Scholar
Apostolova, N, Blas-Garcia, A, Esplugues, JV. Mitochondrial interference by anti-HIV drugs: mechanisms beyond Pol-gamma inhibition. Trends Pharmacol Sci 2011;32:715–725.CrossRefGoogle ScholarPubMed
Sokol, RJ, Winklhofer-Roob, BM, Devereaux, MW, McKim, JM. Generation of hydroperoxides in isolated rat hepatocytes and hepatic mitochondria exposed to hydrophobic bile acids. Gastroenterology 1995;109:1249–1256.CrossRefGoogle ScholarPubMed
Serviddio, G, Sastre, J, Bellanti, F, Vina, J, Vendemiale, G, Altomare, E. Mitochondrial involvement in non-alcoholic steatohepatitis. Mol Aspects Med 2008;29(1–2):22–35.CrossRefGoogle ScholarPubMed
Munnich, A, Rotig, A, Chretien, D, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis 1996;19:521–527.CrossRefGoogle ScholarPubMed
Rustin, P, Chretien, D, Bourgeron, T, et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994;228:35–51.CrossRefGoogle ScholarPubMed
Munnich, A, Rotig, A, Chretien, D, et al. Clinical presentations and laboratory investigations in respiratory chain deficiency. Eur J Pediatr 1996;155:262–274.CrossRefGoogle ScholarPubMed
Friedman, SD, Shaw, DW, Ishak, G, Gropman, AL, Saneto, RP. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Reviews 2010;16:129–135.CrossRefGoogle Scholar
Zhang, W, Cui, H, Wong, LJ. Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing. Clin Chem 2012;58:1322–1331.CrossRefGoogle ScholarPubMed
Pfeffer, G, Majamaa, K, Turnbull, DM, Thorburn, D, Chinnery, PF. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012;(4):CD004426.
Taylor, RW, Chinnery, PF, Clark, KM, Lightowlers, RN, Turnbull, DM. Treatment of mitochondrial disease. J Biogenet Biomemb 1997;29:195–205.CrossRefGoogle ScholarPubMed
Suomalainen, A. Therapy for mitochondrial disorders: little proof, high research activity, some promise. Semin Fetal Neonatal Med 2011;16:236–240.CrossRefGoogle ScholarPubMed
Sokal, EM, Sokol, R, Cormier, V, et al. Liver transplantation in mitochondrial respiratory chain disorders. Eur J Pediatr 1999;158(Suppl 2):S81–S84.CrossRefGoogle ScholarPubMed
Yamada, Y, Harashima, H. Delivery of bioactive molecules to the mitochondrial genome using a membrane-fusing, liposome-based carrier, DF-MITO-Porter. Biomaterials 2012;33:1589–1595.CrossRefGoogle ScholarPubMed
Tachibana, M, Amato, P, Sparman, M, et al. Towards germline gene therapy of inherited mitochondrial diseases. Nature 2013;493:627–631.CrossRefGoogle ScholarPubMed
Bredenoord, AL, Pennings, G, Smeets, HJ, de Wert, G. Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders. Hum Reprod Update 2008;14:83–94.CrossRefGoogle ScholarPubMed
Sokol, RJ, Treem, WR. Mitochondria and childhood liver diseases. J Pediatr Gastroenterol Nutr 1999;28:4–16.CrossRefGoogle ScholarPubMed

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×