Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing

Molecular Therapy

Volumn 21, Issue 7, 2013, Pages 1316-1323

  Guenzel, Adam J ^a   Hofherr, Sean E ^b   Hillestad, Matthew ^c   Barry, Mary ^c   Weaver, Eric ^c   Venezia, Sarah ^d   Kraus, Jan P ^d   Matern, Dietrich ^c   Barry, Michael A ^c  

^a MAYO GRADUATE SCHOOL   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c MAYO CLINIC   (United States)

^d UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOVIRUS VECTOR; ALANINE; AMMONIA; CITRIC ACID; GLYCINE; LYSINE; METHYLCITRIC ACID; PARVOVIRUS VECTOR; PCCA PROTEIN; PROPIONYL COENZYME A CARBOXYLASE; PROPIONYL COENZYME A CARBOXYLASE ALPHA; PROPIONYLCARNITINE; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CARDIOMYOPATHY; CONTROLLED STUDY; GENE; HYPERAMMONEMIA; MOUSE; NONHUMAN; OPTIMAL DRUG DOSE; PCCA GENE; PROPIONIC ACIDEMIA; VIRAL GENE THERAPY;

ADENO-ASSOCIATED VIRUS; ADENOVIRIDAE; MUS;

EID: 84879692797     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2013.68     Document Type: Article

References (44)

1. Ravn, K, Chloupkova, M, Christensen, E, Brandt, NJ, Simonsen, H, Kraus, JP et al. (2000). High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Am J Hum Genet 67: 203-206. (Pubitemid 30481557)
2. Gravel, RA, Lam, KF, Mahuran, D and Kronis, A (1980). Purifcation of human liver propionyl-CoA carboxylase by carbon tetrachloride extraction and monomeric avidin affnity chromatography. Arch Biochem Biophys 201: 669-673.
3. Kalousek, F, Darigo, MD and Rosenberg, LE (1980). Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits. J Biol Chem 255: 60-65. (Pubitemid 10146029)
4. Huang, CS, Sadre-Bazzaz, K, Shen, Y, Deng, B, Zhou, ZH and Tong, L (2010). Crystal structure of the alpha(6)beta(6) holoenzyme of propionyl-coenzyme A carboxylase. Nature 466: 1001-1005.
5. Pérez, B, Desviat, LR, Rodríguez-Pombo, P, Clavero, S, Navarrete, R, Perez-Cerdá, C et al. (2003). Propionic acidemia: identifcation of twenty-four novel mutations in Europe and North America. Mol Genet Metab 78: 59-67. (Pubitemid 36277657)
6. Ugarte, M, Pérez-Cerdá, C, Rodríguez-Pombo, P, Desviat, LR, Pérez, B, Richard, E et al. (1999). Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat 14: 275-282. (Pubitemid 29480310)
7. Desviat, LR, Pérez, B, Pérez-Cerdá, C, Rodríguez-Pombo, P, Clavero, S and Ugarte, M (2004). Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab 83: 28-37. (Pubitemid 39311278)
8. Rincón, A, Aguado, C, Desviat, LR, Sánchez-Alcudia, R, Ugarte, M and Pérez, B (2007). Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet 81: 1262-1270. (Pubitemid 350211454)
9. Clavero, S, Martínez, MA, Pérez, B, Pérez- Cerdá, C, Ugarte, M and Desviat, LR (2002). Functional characterization of PCCA mutations causing propionic acidemia. Biochim Biophys Acta 1588: 119-125. (Pubitemid 35217835)
10. Lehnert, W, Sperl, W, Suormala, T and Baumgartner, ER (1994). Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 153(7 Suppl 1): S68-S80. (Pubitemid 24210308)
11. Turgeon, CT, Magera, MJ, Cuthbert, CD, Loken, PR, Gavrilov, DK, Tortorelli, S et al. (2010). Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem 56: 1686-1695.
12. Deodato, F, Boenzi, S, Santorelli, FM and Dionisi-Vici, C (2006). Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet 142C: 104-112.
13. Millington, DS, Roe, CR and Maltby, DA (1984). Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identifcation and analysis of acylcarnitines in metabolic disease. Biomed Mass Spectrom 11: 236-241. (Pubitemid 14099211)
14. Turgeon, C, Magera, MJ, Allard, P, Tortorelli, S, Gavrilov, D, Oglesbee, D et al. (2008). Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem 54: 657-664. (Pubitemid 351573716)
15. Pena, L, Franks, J, Chapman, KA, Gropman, A, Ah Mew, N, Chakrapani, A et al. (2012). Natural history of propionic acidemia. Mol Genet Metab 105: 5-9.
16. Henriquez, H, el Din, A, Ozand, PT, Subramanyam, SB and al Gain, SI (1994). Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). Brain Dev 16 Suppl: 86-93. (Pubitemid 124009021)
17. Sutton, VR, Chapman, KA, Gropman, AL, MacLeod, E, Stagni, K, Summar, ML et al. (2012). Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab 105: 26-33.
18. Chapman, KA, Gropman, A, MacLeod, E, Stagni, K, Summar, ML, Ueda, K et al. (2012). Acute management of propionic acidemia. Mol Genet Metab 105: 16-25.
19. Barshes, NR, Vanatta, JM, Patel, AJ, Carter, BA, O'Mahony, CA, Karpen, SJ et al. (2006). Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. Pediatr Transplant 10: 773-781. (Pubitemid 44536402)
20. Grünert, SC, Müllerleile, S, de Silva, L, Barth, M, Walter, M, Walter, K et al. (2012). Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis 35: 41-49.
21. Pena, L and Burton, BK (2012). Survey of health status and complications among propionic acidemia patients. Am J Med Genet A 158A: 1641-1646.
22. Massoud, AF and Leonard, JV (1993). Cardiomyopathy in propionic acidaemia. Eur J Pediatr 152: 441-445. (Pubitemid 23132002)
23. Bhan, AK and Brody, C (2001). Propionic acidemia: a rare cause of cardiomyopathy. Congest Heart Fail 7: 218-219.
24. Baumgartner, D, Scholl-Bürgi, S, Sass, JO, Sperl, W, Schweigmann, U, Stein, JI et al. (2007). Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 150: 192-7, 197.e1.
25. Kakavand, B, Schroeder, VA and Di Sessa, TG (2006). Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol 27: 160-161.
26. Yorifuji, T, Muroi, J, Uematsu, A, Nakahata, T, Egawa, H and Tanaka, K (2000). Living-related liver transplantation for neonatal-onset propionic acidemia. J Pediatr 137: 572-574.
27. Kayler, LK, Merion, RM, Lee, S, Sung, RS, Punch, JD, Rudich, SM et al. (2002). Longterm survival after liver transplantation in children with metabolic disorders. Pediatr Transplant 6: 295-300. (Pubitemid 35000969)
28. Miyazaki, T, Ohura, T, Kobayashi, M, Shigematsu, Y, Yamaguchi, S, Suzuki, Y et al. (2001). Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specifc supplementation via a transgene. J Biol Chem 276: 35995-35999.
29. Hofherr, SE, Senac, JS, Chen, CY, Palmer, DJ, Ng, P and Barry, MA (2009). Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy. Hum Gene Ther 20: 169-180.
30. Chandler, RJ, Chandrasekaran, S, Carrillo-Carrasco, N, Senac, JS, Hofherr, SE, Barry, MA et al. (2011). Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia. Hum Gene Ther 22: 477-481.
31. Pérez-Cerdá, C, Merinero, B, Rodríguez-Pombo, P, Pérez, B, Desviat, LR, Muro, S et al. (2000). Potential relationship between genotype and clinical outcome in propionic acidaemia patients. Eur J Hum Genet 8: 187-194. (Pubitemid 30189862)
32. Filipowicz, HR, Ernst, SL, Ashurst, CL, Pasquali, M and Longo, N (2006). Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Genet Metab 88: 123-130.
33. Tuchman, M and Yudkoff, M (1999). Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia. Mol Genet Metab 66: 10-15. (Pubitemid 29389924)
34. Tsai, SH, Lin, YY, Chu, SJ, Hsu, CW and Cheng, SM (2010). Interpretation and use of natriuretic peptides in non-congestive heart failure settings. Yonsei Med J 51: 151-163.
35. Chandler, CS and Ballard, FJ (1988). Regulation of the breakdown rates of biotin-containing proteins in Swiss 3T3-L1 cells. Biochem J 251: 749-755.
36. Childs, B, Nyhan, WL, Borden, M, Bard, L and Cooke, RE (1961). Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I. Pediatrics 27: 522-538.
37. Smeitink, JA (2003). Mitochondrial disorders: clinical presentation and diagnostic dilemmas. J Inherit Metab Dis 26: 199-207. (Pubitemid 36889743)
38. Gompertz, D, Storrs, CN, Bau, DC, Peters, TJ and Hughes, EA (1970). Localisation of enzymic defect in propionicacidaemia. Lancet 1: 1140-1143.
39. Yang, Y, Ertl, HC and Wilson, JM (1994). MHC class I-restricted cytotoxic T lymphocytes to viral antigens destroy hepatocytes in mice infected with E1-deleted recombinant adenoviruses. Immunity 1: 433-442.
40. Jiang, H, Rao, KS, Yee, VC and Kraus, JP (2005). Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. J Biol Chem 280: 27719-27727. (Pubitemid 41076886)
41. Lacey JM, Magera M, Casetta B, Daniels S, Eckerman JS, Rinaldo P, Matern D (2009). Evaluation of an iTRAQ amino acid analysis kit for the rapid quantitation of amino acids in biological fuids. Mol Genet Metab 98.
42. Peche, VS, Holak, TA, Burgute, BD, Kosmas, K, Kale, S P, Wunderlich, FT et al. (2013). Ablation of cyclase-associated protein 2 (CAP2) leads to cardiomyopathy. Cell Mol Life Sci 70: 527-543.
43. Mok, H, Palmer, DJ, Ng, P and Barry, MA (2005). Evaluation of polyethylene glycol modifcation of frst-generation and helper-dependent adenoviral vectors to reduce innate immune responses. Mol Ther 11: 66-79. (Pubitemid 40012000)
44. Lock, M, Alvira, M, Vandenberghe, LH, Samanta, A, Toelen, J, Debyser, Z et al. (2010). Rapid, simple, and versatile manufacturing of recombinant adeno-associated viral vectors at scale. Hum Gene Ther 21: 1259-1271.