359-368 Metabolic biology of 3-methylglutaconic acid-uria: A new perspective

Journal of Inherited Metabolic Disease

Volumn 37, Issue 3, 2014, Pages 359-368

  Su, Betty ^a   Ryan, Robert O ^a  

^a CHILDREN S HOSPITAL OAKLAND RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXY 3 METHYLGLUTARYL COENZYME A; 3 METHYLGLUTACONIC ACID; ACETYL COENZYME A; ACETYL COENZYME A ACETYLTRANSFERASE; ACETYL COENZYME A CARBOXYLASE; CARDIOLIPIN; ENOYL COENZYME A HYDRATASE; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; LEUCINE; LYSINE; METHYLCROTONOYL COENZYME A CARBOXYLASE; MITOCHONDRIAL PROTEIN; PHOSPHATIDYLGLYCEROL; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; PYRUVATE DEHYDROGENASE; TRYPTOPHAN; UBIDECARENONE; 3-METHYLGLUTACONIC ACID; ACETOACETYL COA; ACYL COENZYME A; GLUTARIC ACID DERIVATIVE; TERPENE;

3 METHYLGLUTACONIC ACIDURIA; AMINO ACID METABOLISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN MITOCHONDRION; CITRIC ACID CYCLE; CLAISEN CONDENSATION; COSTEFF SYNDROME; CYTOSOL; DILATED CARDIOMYOPATHY WITH ATAXIA SYNDROME; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; ENZYME DEGRADATION; ENZYME METABOLISM; ENZYME SPECIFICITY; FATTY ACID OXIDATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GLUCOSE UTILIZATION; HUMAN; HYDROLYSIS; LIVER MITOCHONDRION; MITOCHONDRIAL RESPIRATION; NONHUMAN; OPTIC NERVE ATROPHY; OXIDATIVE PHOSPHORYLATION; PROTEIN ASSEMBLY; SMITH LEMLI OPITZ SYNDROME; ZEBRA FISH; ANIMAL; CHEMISTRY; CHOREA; HEREDITARY MOTOR SENSORY NEUROPATHY; INBORN ERROR OF METABOLISM; METABOLISM; URINE;

ACETYL COENZYME A; ACYL COENZYME A; ANIMALS; CARDIOLIPINS; CHOREA; CITRIC ACID CYCLE; GLUTARATES; HUMANS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL PROTEINS; OPTIC ATROPHY; PHOSPHATIDYLGLYCEROLS; SMITH-LEMLI-OPITZ SYNDROME; SPASTIC PARAPLEGIA, HEREDITARY; TERPENES;

EID: 84904161645     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9669-0     Document Type: Article

References (69)

1. Acehan D, Vaz F, Houtkooper RH et al (2011) Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome. J Biol Chem 286(2):899-908
2. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O (2001) Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 69(6):1218-1224 (Pubitemid 33124203)
3. Bazan S, Mileykovskaya E, Mallampalli VK, Heacock P, Sparagna GC, Dowhan W (2013) Cardiolipin-dependent reconstitution of respiratory supercomplexes from purified Saccharomyces cerevisiae complexes III and IV. J Biol Chem 288(1):401-411
4. Bissler JJ, Tsoras M, Goring HH et al (2002) Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. Lab Invest 82(3):335-344 (Pubitemid 34245407)
5. Bird MJ, Thorburn DR, Frazier AE (2013) Modelling biochemical features of mitochondrial neuropathology. Biochim Biophys Acta. doi: 10.1016/j.bbagen.2013. 10.017
6. Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A (1992) Alphaketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. J Pediatr 121(2):255-258
7. Chinopoulos C (2013) Which way does the citric acid cycle turn during hypoxia? The critical role of alpha-ketoglutarate dehydrogenase complex. J Neurosci Res 91(8):1030-1043
8. Cizkova A, Stranecky V, Mayr JA et al (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40(11):1288-1290
9. Clarke SL, Bowron A, Gonzalez IL et al (2013) Barth syndrome. Orphanet J Rare Dis 8:23. doi:10.1186/1750-1172-8-23
10. Davey KM, Parboosingh JS, McLeod DR et al (2006) Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 43(5):385-393
11. De Kremer RD, Paschini-Capra A, Bacman S et al (2001) Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). Am J Med Genet 99(2):83-93 (Pubitemid 32204776)
12. Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knöppel C, Knape M, Zierz S, Gellerich FN (2006) Molecular and biochemical investigations in fumarase deficiency. Mol Genet Metab 88(2):146-152
13. Edmond J, Popjak G (1974) Transfer of carbon atoms frommevalonate to n-fatty acids. J Biol Chem 249(1):66-71
14. Ferri L, Donati MA, Funghini S et al (2013) New clinical and molecular insights on Barth syndrome. Orphanet J Rare Dis 8(1):27
15. Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C (1992) Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 108(1):105-113
16. Foster CV, Harris RC (1987) Formation of acetylcarnitine in muscle of horse during high intensity exercise. Eur J Appl Physiol Occup Physiol 56(6):639-642 (Pubitemid 17153647)
17. Fukao T, Song XQ, Mitchell GA et al (1997) Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases. Pediatr Res 42(4):498-502 (Pubitemid 27411157)
18. Gabriel JL, Plaut GW (1984) Inhibition of bovine heart NAD-specific isocitrate dehydrogenase by reduced pyridine nucleotides: modulation of inhibition by ADP, NAD+, Ca2+, citrate, and isocitrate. Biochemistry 23(12):2773-2778
19. Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI (1993) Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol 9(2): 120-123 (Pubitemid 23127899)
20. Gnoni GV, Priore P, Geelen MJ, Siculella L (2009) The mitochondrial citrate carrier: metabolic role and regulation of its activity and expression. IUBMB Life 61(10):987-994
21. Gu Z, Valianpour F, Chen S et al (2004) Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. Mol Microbiol 51(1):149-158 (Pubitemid 38031078)
22. Haapalainen AM, Merilainen G, Pirila PL, Kondo N, Fukao T, Wierenga RK (2007) Crystallographic and kinetic studies of human mitochondrial acetoacetyl-CoA thiolase: the importance of potassium and chloride ions for its structure and function. Biochemistry 46(14): 4305-4321 (Pubitemid 46559397)
23. Hegardt FG (1999) Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase: a control enzyme in ketogenesis. Biochem J 338(Pt 3): 569-582
24. Honzik T, Tesarova M, Mayr JA et al (2010) Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child 95(4):296-301
25. Houtkooper RH, Vaz FM (2008) Cardiolipin, the heart of mitochondrial metabolism. Cell Mol Life Sci 65(16):2493-2506
26. IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ (2002) 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet 71(6):1463-1466
27. Kelley RI, Kratz L (1995) 3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. Pediatr Res 37(5):671-674
28. Khuchua Z, Yue Z, Batts L, Strauss AW (2006) A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function. Circ Res 99(2):201-208 (Pubitemid 44297044)
29. Kirkby B, Roman N, Kobe B, Kellie S, Forwood JK (2010) Functional and structural properties of mammalian acyl-coenzyme A thioesterases. Prog Lipid Res 49(4):366-377
30. Kunau WH, Dommes V, Schulz H (1995) beta-oxidation of fatty acids in mitochondria, peroxisomes, and bacteria: a century of continued progress. Prog Lipid Res 34(4):267-342
31. Kurimoto K, Kuwasako K, Sandercock AM et al (2009) AU-rich RNA-binding induces changes in the quaternary structure of AUH. Proteins 75(2):360-372
32. Larsen S, Stride N, Hey-Mogensen M et al (2013) Simvastatin effects on skeletal muscle: relation to decreased mitochondrial function and glucose intolerance. J Am Coll Cardiol 61(1):44-53
33. Law LK, Tang NL, Hui J, Lam CW, Fok TF (2003) 3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib. J Inherit Metab Dis 26(7):705-709 (Pubitemid 38008975)
34. Longnus SL, Wambolt RB, Barr RL, Lopaschuk GD, Allard MF (2001) Regulation of myocardial fatty acid oxidation by substrate supply. Am J Physiol Heart Circ Physiol 281(4):H1561-1567
35. Lopaschuk GD, Ussher JR, Folmes CD, Jaswal JS, Stanley WC (2010) Myocardial fatty acid metabolism in health and disease. Physiol Rev 90(1):207-258
36. Loupatty FJ, Ruiter JP LIJ, Duran M, Wanders RJ (2004) Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I. Clin Chem 50(8):1447-1450 (Pubitemid 38970663)
37. Mascaro C, Buesa C, Ortiz JA, Haro D, Hegardt FG (1995) Molecular cloning and tissue expression of human mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. Arch Biochem Biophys 317(2):385-390
38. Morava E, Steuerwald U, Carrozzo R et al (2009) Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion 9(6):438-442
39. Muraki A, Miyashita K, Mitsuishi M, Tamaki M, Tanaka K, Itoh H (2012) Coenzyme Q10 reverses mitochondrial dysfunction in atorvastatin-treated mice and increases exercise endurance. J Appl Physiol 113(3):479-486
40. Ojala T, Polinati P, Manninen T et al (2012) New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res 72(4):432-437
41. Pei W, Kratz LE, Bernardini I et al (2010) A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development 137(15):2587-2596
42. Phillips PS, Haas RH, Bannykh S et al (2002) Statin-associatedmyopathy with normal creatine kinase levels. Ann Intern Med 137(7):581-585
43. Powell KA, Davies JR, Taylor E, Wride MA, Votruba M (2011) Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III. Invest Ophthalmol Vis Sci 52(7):4369-4380
44. Puisac B, Arnedo M, Casale CH et al (2010) Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria. J Inherit Metab Dis 33(4):405-410
45. Puisac B, Ramos M, Arnedo M et al (2012) Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, themain enzymes of the ketogenesis pathway. Mol Biol Rep 39(4):4777-4785
46. Rehling P, Pfanner N, Meisinger C (2003) Insertion of hydrophobic membrane proteins into the inner mitochondrial membrane-a guided tour. J Mol Biol 326(3):639-657 (Pubitemid 36279308)
47. Roullet JB, Merkens LS, Pappu AS et al (2012) No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. J Inherit Metab Dis 35(5):859-869
48. Scaglia F, Sutton VR, Bodamer OA et al (2001) Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol 16(2):136-138 (Pubitemid 32390179)
49. Schiele U, Lynen F (1981) [90] 3-Methylcrotonyl-CoA carboxylase from Achromobacter: EC 6.4.1.4 3-Methylcrotonyl-CoA: carbon-dioxide ligase (ADP-forming). In John ML ed. Methods in Enzymology: Academic Press, 781-791
50. Sluse FE, Meijer AJ, Tager JM (1971) Anion translocators in rat-heart mitochondria. FEBS Lett 18(1):149-153
51. Spencer CT, Byrne BJ, Bryant RM et al (2011) Impaired cardiac reserve and severely diminished skeletal muscle O(2) utilization mediate exercise intolerance in Barth syndrome. Am J Physiol Heart Circ Physiol 301(5):H2122-2129
52. Spiegel R, Khayat M, Shalev SA et al (2011) TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. J Med Genet 48(3):177-182
53. Tong L (2013) Structure and function of biotin-dependent carboxylases. Cell Mol Life Sci 70(5):863-891
54. Valianpour F, Mitsakos V, Schlemmer D et al (2005) Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res 46(6):1182-1195 (Pubitemid 43109833)
55. Walsh R, Conway H, Roche G, Mayne PD (1999)What is the origin of 3-methylglutaconic acid? J Inherit Metab Dis 22(3):251-255 (Pubitemid 29259488)
56. Wells T, Davies JR, Guschina IA et al (2012) Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Hum Mol Genet 21(22):4836-4844
57. Westin MA, Hunt MC, Alexson SE (2005) The identification of a succinyl-CoA thioesterase suggests a novel pathway for succinate production in peroxisomes. J Biol Chem 280(46):38125-38132 (Pubitemid 43853707)
58. Whited K, Baile MG, Currier P, Claypool SM (2013) Seven functional classes of Barth syndrome mutation. Hum Mol Genet 22(3):483-492
59. Wortmann S, Rodenburg RJ, Huizing M et al (2006) Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab 88(1):47-52
60. Wortmann SB, Duran M, Anikster Y, et al (2013a) Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. doi:10.1007/s10545-012- 9580-0
61. Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E (2012a) The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis 35(1):13-22
62. Wortmann SB, Kluijtmans LA, Rodenburg RJ, et al (2013b) 3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients. J Inherit Metab Dis. doi:10.1007/s10545-012-9579-6
63. Wortmann SB, Rodenburg RJ, Jonckheere A et al (2009) Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain 132(Pt 1):136-146
64. Wortmann SB, Vaz FM, Gardeitchik T et al (2012b) Mutations in the phospholipid remodeling gene SERAC1 impairmitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 44(7):797-802
65. Wu G (2013) Amino Acids: Biochemistry and Nutrition. CRC, Boca Raton
66. Xu Y, Condell M, Plesken H et al (2006a) A Drosophila model of Barth syndrome. Proc Natl Acad Sci U S A 103(31):11584-11588 (Pubitemid 44182495)
67. Xu Y, Malhotra A, Ren M, Schlame M (2006b) The enzymatic function of tafazzin. J Biol Chem 281(51):39217-39224 (Pubitemid 46041881)
68. Yang SY, He XY, Schulz H (1987) Fatty acid oxidation in rat brain is limited by the low activity of 3-ketoacyl-coenzyme A thiolase. J Biol Chem 262(27):13027-13032
69. Zhang M, Mileykovskaya E, Dowhan W (2005) Cardiolipin is essential for organization of complexes III and IV into a supercomplex in intact yeast mitochondria. J Biol Chem 280(33):29403-29408 (Pubitemid 41177012)