HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Ferdinandusse, Sacha ^a   Waterham, Hans R ^a   Heales, Simon Jr ^b,c,d   Brown, Garry K ^e   Hargreaves, Iain P ^c   Taanman, Jan Willem ^f   Gunny, Roxana ^b   Abulhoul, Lara ^b   Wanders, Ronald Ja ^a   Clayton, Peter T ^d   Leonard, James V ^d   Rahman, Shamima ^b,d  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

3 hydroxy isobutyryl CoA hydrolase; Acylcarnitines; HIBCH; Mitochondrial disease; Multiple mitochondrial dysfunctions syndrome; Multiple respiratory chain enzyme deficiencies; Organic aciduria; Pyruvate dehydrogenase deficiency; Valine catabolism

Indexed keywords

ACYLCARNITINE; CARNITINE; HYDROXY C4 CARNITINE; UNCLASSIFIED DRUG;

3 HYDROXY ISOBUTYRYL COA HYDROLASE GENE; ARTICLE; BASAL GANGLION; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CONTROLLED STUDY; DYSTONIA; ELECTROENCEPHALOGRAM; ENZYME ASSAY; ENZYME DEFICIENCY; FEEDING DIFFICULTY; FIBROBLAST; GENE; HOMOZYGOSITY; HUMAN; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; IRRITABILITY; LEIGH DISEASE; LEUKOENCEPHALOPATHY; MALE; MISSENSE MUTATION; MULTIPLE MITOCHONDRIAL RESPIRATORY CHAIN ENZYME DEFICIENCY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NERVE DEGENERATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN DESATURATION; PRESCHOOL CHILD; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SCHOOL CHILD; SEIZURE; SKELETAL MUSCLE; SKIN FIBROBLAST; SLEEP DISORDER; STOMACH FUNDOPLICATION; VOMITING;

CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; INFANT, NEWBORN; KETONE OXIDOREDUCTASES; LEIGH DISEASE; MALE; MITOCHONDRIAL DISEASES; MUTATION; SIBLINGS; THIOLESTER HYDROLASES;

EID: 84888808481     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-188     Document Type: Article

References (39)

1. Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases. Rahman S, Hanna MG, J Neurol Neurosurg Psychiatry 2009 80 943 953 10.1136/jnnp.2008.158279 19684231
2. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. Sarzi E, Bourdon A, Chretien D, Zarhrate M, Corcos J, Slama A, de Lonlay P, Cormier-Daire V, Rotig A, Munnich A, J Pediatr 2007 150 531 534 10.1016/j.jpeds.2007.01.044 17452231 (Pubitemid 46602336)
3. 175th ENMC International Workshop: mitochondrial protein synthesis in health and disease, 25-27th June 2010, Naarden, The Netherlands. Chrzanowska-Lightowlers ZM, Horvath R, Lightowlers RN, Neuromuscul Disord 2011 21 142 147 10.1016/j.nmd.2010.10.005 21111623
4. Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease. Rouault TA, Dis Model Mech 2012 5 155 164 10.1242/dmm.009019 22382365
5. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del TM, Labayru MT, Landa J, Font A, Garcia-Villoria J, et al. Am J Hum Genet 2011 89 656 667 10.1016/j.ajhg.2011.10. 005 22077971
6. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes. Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH, Am J Hum Genet 2011 89 486 495 10.1016/j.ajhg.2011.08.011 21944046
7. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR, Ann Neurol 1996 39 343 351 10.1002/ana.410390311 8602753 (Pubitemid 26100758)
8. Neuroradiologic findings in children with mitochondrial disorders. Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H, AJNR Am J Neuroradiol 1998 19 369 377 9504497 (Pubitemid 30413811)
9. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Harting I, Neumaier-Probst E, Seitz A, Maier EM, Assmann B, Baric I, Troncoso M, Muhlhausen C, Zschocke J, Boy NP, et al. Brain 2009 132 1764 1782 10.1093/brain/awp112 19433437
10. Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemia. Harting I, Seitz A, Geb S, Zwickler T, Porto L, Lindner M, Kolker S, Horster F, J Inherit Metab Dis 2008 31 368 378 10.1007/s10545-008-0801-5 18470632
11. Beta-hydroxyisobutyryl coenzyme a deacylase deficiency: a defect in valine metabolism associated with physical malformations. Brown GK, Hunt SM, Scholem R, Fowler K, Grimes A, Mercer JF, Truscott RM, Cotton RG, Rogers JG, Danks DM, Pediatrics 1982 70 532 538 7122152 (Pubitemid 12028366)
12. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. Loupatty FJ, Clayton PT, Ruiter JP, Ofman R, Ijlst L, Brown GK, Thorburn DR, Harris RA, Duran M, Desousa C, et al. Am J Hum Genet 2007 80 195 199 10.1086/510725 17160907 (Pubitemid 46047662)
13. Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion. Hargreaves P, Rahman S, Guthrie P, Taanman JW, Leonard JV, Land JM, Heales SJ, J Inherit Metab Dis 2002 25 7 16 10.1023/A:1015104910239 12004863 (Pubitemid 34303220)
14. Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome). Hayasaka K, Brown GK, Danks DM, Droste M, Kadenbach B, J Inherit Metab Dis 1989 12 247 256 (Pubitemid 19253243)
15. Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Taanman JW, Muddle JR, Muntau AC, Hum Mol Genet 2003 12 1839 1845 10.1093/hmg/ddg192 12874104 (Pubitemid 36944138)
16. Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase. Wicking CA, Scholem RD, Hunt SM, Brown GK, Biochem J 1986 239 89 96 3800988 (Pubitemid 17178378)
17. Glutathione deficiency in patients with mitochondrial disease: implications for pathogenesis and treatment. Hargreaves IP, Sheena Y, Land JM, Heales SJ, J Inherit Metab Dis 2005 28 81 88 10.1007/s10545-005-4160-1 15702408 (Pubitemid 40253986)
18. Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Lehnert W, Sass JO, Med Hypotheses 2005 65 330 333 10.1016/j.mehy.2005.02.021 15922108 (Pubitemid 40744763)
19. Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate. Treacy E, Arbour L, Chessex P, Graham G, Kasprzak L, Casey K, Bell L, Mamer O, Scriver CR, J Pediatr 1996 129 445 448 10.1016/S0022-3476(96)70080-X 8804337 (Pubitemid 27484154)
20. Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. Okun JG, Horster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kolker S, J Biol Chem 2002 277 14674 14680 11847233 (Pubitemid 34952536)
21. Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chretien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, et al. Pediatr Res 2009 66 91 95 10.1203/PDR.0b013e3181a7c270 19342984
22. Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Schwab MA, Sauer SW, Okun JG, Nijtmans LG, Rodenburg RJ, van den Heuvel LP, Drose S, Brandt U, Hoffmann GF, Ter LH, et al. Biochem J 2006 398 107 112 10.1042/BJ20060221 16686602 (Pubitemid 44231305)
23. Diagnosis of mitochondrial DNA depletion syndromes. Rahman S, Poulton J, Arch Dis Child 2009 94 3 5 10.1136/adc.2008.147983 19103785
24. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, et al. J Inherit Metab Dis 2012
25. Alpha-keto acid dehydrogenase complexes. 13. Reaction of sulfhydryl groups in pyruvate dehydrogenase with organic mercurials. Schwartz ER, Reed LJ, J Biol Chem 1970 245 183 187 4904089
26. Organization and functioning of muscle pyruvate dehydrogenase active centers. Khailova LS, Korochkina LG, Severin SE, Ann N Y Acad Sci 1989 573 36 54 10.1111/j.1749-6632.1989.tb14985.x 2634351 (Pubitemid 20175643)
27. Identification of the essential cysteine residue in the active site of bovine pyruvate dehydrogenase. Ali MS, Roche TE, Patel MS, J Biol Chem 1993 268 22353 22356 8226745 (Pubitemid 23318279)
28. Direct evidence for S-nitrosation of mitochondrial complex I. Burwell LS, Nadtochiy SM, Tompkins AJ, Young S, Brookes PS, Biochem J 2006 394 627 634 10.1042/BJ20051435 16371007
29. Reversible inactivation of cytochrome oxidase by disulfide bond reagents. Cooperstein SJ, J Biol Chem 1963 238 3606 3610 14109194
30. Protection against oxidant-induced apoptosis by mitochondrial thioredoxin in SH-SY5Y neuroblastoma cells. Chen Y, Yu M, Jones DP, Greenamyre JT, Cai J, Toxicol Appl Pharmacol 2006 216 256 262 10.1016/j.taap.2006.05.006 16797630 (Pubitemid 44466005)
31. Plasma thiol status is altered in children with mitochondrial diseases. Salmi H, Leonard JV, Rahman S, Lapatto R, Scand J Clin Lab Invest 2012 72 152 157 10.3109/00365513.2011.646299 22208644
32. Patients with organic acidaemias have an altered thiol status. Salmi H, Leonard JV, Lapatto R, Acta Paediatr 2012 101 505 e508 10.1111/j.1651-2227.2012. 02799.x 22849335
33. Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis. Langston JW, Ballard P, Tetrud JW, Irwin I, Science 1983 219 979 980 10.1126/science.6823561 6823561 (Pubitemid 13189531)
34. Parkinson's disease: a disorder due to nigral glutathione deficiency? Perry TL, Godin DV, Hansen S, Neurosci Lett 1982 33 305 310 10.1016/0304- 3940(82)90390-1 7162692 (Pubitemid 13119539)
35. Quantitative mapping of reversible mitochondrial complex I cysteine oxidation in a parkinson disease mouse model. Danielson SR, Held JM, Oo M, Riley R, Gibson BW, Andersen JK, J Biol Chem 2011 286 7601 7608 10.1074/jbc.M110. 190108 21196577
36. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, et al. Am J Hum Genet 2004 74 239 252 10.1086/381653 14732903 (Pubitemid 38168612)
37. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Tiranti V, Viscomi C, Hildebrandt T, Di MI, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, et al. Nat Med 2009 15 200 205 10.1038/nm.1907 19136963
38. 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, Pagnamenta A, Eshhar S, Saada A, Am J Hum Genet 2005 76 1081 1086 10.1086/430843 15877282 (Pubitemid 40705442)
39. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, et al. Pediatr Res 2010 68 159 164 20453710