TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency

Molecular Therapy

Volumn 16, Issue 4, 2008, Pages 691-697

  Rapoport, Matan ^a   Saada, Ann ^b   Elpeleg, Orly ^b   Lorberboum Galski, Haya ^a  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

DIHYDROLIPOAMIDE DEHYDROGENASE TRANSACTIVATOR PROTEIN; HYBRID PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL BASED GENE THERAPY; CONTROLLED STUDY; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; ENZYME SUBUNIT; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MITOCHONDRION; NONVIRAL GENE DELIVERY SYSTEM;

EID: 41149128339     PISSN: 15250016     EISSN: 15250024     Source Type: Journal    
DOI: 10.1038/mt.2008.4     Document Type: Article

References (35)

1. Chinnery, PF and Schon, EA(2003). Mitochondria. J Neurol Neurosurg Psychiatry 74: 1188-1199.
2. DiMauro, S and Schon, EA (2003). Mitochondrial respiratory-chain diseases. N Engl J Med 348: 2656-2668.
3. Brautigam, CA, Chuang, JL, Tomchick, DR, Machius, M and Chuang, DT (2005). Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/ NADH binding and the structural basis of disease-causing mutations. J Mol Biol 350: 543-552.
4. Smolle, M and Lindsay, JG (2006). Molecular architecture of the pyruvate dehydrogenase complex: Bridging the gap. Biochem Soc Trans 34 815-818.
5. Smolle, M, Prior, AE, Brown, AE, Cooper, A, Byron, O and Lindsay, JG (2006). A new level of architectural complexity in the human pyruvate dehydrogenase complex. J Biol Chem 281: 19772-19780.
6. Brautigam, CA, Wynn, RK Chuang, JL, Machius, M, Tomchick DR and Chuang, DT (2006). Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex. Structure 14: 611-621.
7. Saada, A, Aptowitzer, I, Link, G and Elpeleg, ON (2000). ATP synthesis in lipoamide dehydrogenase deficiency. Biochem Biophys Res Commun 269: 382-386.
8. Shaag, A, Saada, A, Berger, I, Mandel, H, Joseph, A, Feigenbaum, A et al. (1999). Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet 82: 177-182.
9. Shany, E, Saada, A, Landau, D, Shaag, A, Hershkovitz, E and Elpeleg, ON (1999). Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. Biochem Biophys Res Commun 262: 163-166.
10. Liu, TC, Kim, H, Arizmendi, C, Kitano, A and Patel, MS (1993). Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. Proc Natl Acad Sci USA 90: 5186-5190.
11. Hong, YS, Kerr, DS, Liu, TC, Lusk, M, Powell, BR and Patel, MS (1997). Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing. Biochim Biophys Acta 1362: 160-168.
12. Hong, YS, Kerr, PS, Craigen, WJ, Tan, J, Pan, Y, Lusk M et al. (1996). Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrog-nase deficiency. Hum Mol Genet 5 1925-1930.
13. Robinson, BH (1995). The Metabolic Basis of Inherited Diseases. McGraw-Hill, New York.
14. Zeviani, M and Di Donato, S (2004). Mitochondrial disorders. Brain 127: 2153-2172.
15. Brady, RO and Schiffmann, R (2004). Enzym-replacement therapy for metabolic storage disorders. Lancet Neurol 3: 752-756.
16. Wang, D, Bonten, EJ, Yogalingam, G, Mann, L and d'Azzo, A (2005). Short-term, high dose enzyme replacement therapy in sialidosis mice. Mol Genet Metab 85: 181-189.
17. Brady, RO (2006). Enzyme replacement for lysosomal diseases. Annu Rev Med 57:283-296.
18. Futaki, S, Suzuki, T, Ohashi, W, Yagami, T, Tanaka S, Ueda, K et al. (2001). Arginine-rich peptides. An abundant source of membrane-permeable peptides having potential as carriers for intracellular protein delivery. J Biol Chem 276: 5836-5840.
19. Kabouridis, PS (2003). Biological applications of protein transduction technology. Trends Biotechnol 21: 498-503.
20. Luft, FC (2003). Transducing proteins to manipulate intracellular targets. J Mol Med 81: 521-523.
21. Green, M and Loewenstein, PM (1988). Autonomous functional domains of chemically synthesized human immunodeficiency virus tat trans-activator protein. Cell 55: 1179-1188.
22. Frankel, AD and Patio, CO (1988). Cellular uptake of the tat protein from human immunodeficiency vinis. Cell 55: 1189-1193.
23. Schwarze, SR, Ho, A, Vocero-Akbani, A and Dowdy, SF (1999). In vivo protein transduction: Delivery of a biologically active protein into the mouse. Science 285: 1569-1572.
24. Guo, X, Hutcheon, AE and Zieske, JD (2004). Transduction of functionally active TAT fusion proteins into comea. Exp Eye Res 78: 997-1005.
25. Cai, SR, Xu, G, Becker-Hapak, M, Ma, M, Dowdy, SF and McLeod, HL (2006). The kinetics and tissue distribution of protein transduction in mice, Eur J Pharm Sci 27: 311-319.
26. Eavri, R and Lorberbourn-Galski, H (2007). A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria. J Biol Chem 292 23402-23409.
27. Del Gaizo, V; MacKenzie, JA and Payne, RM (200-3). Targeting proteins to mitochondria using TAT. Mol Genet Metab 80: 170-180.
28. Del Gaizo, V, and Payne, RM (2003). A novel TAT-mitochondrial signal sequence fusion protein is processed, stays in mitochondria, and crosses the placenta. Mol Ther 7: 720-730.
29. Harris, RA, Bowker-Kinley, MM, Huang, B and Wu, P (2002). Regulation of the activity of the pyruvate dehydrogenase complex. Adv Enzyme Regul 42: 249-259,
30. Berger, I, Elpeleg, ON and Saada, A (1996). Lipoamide dehydrogenase activity in lymphocytes. Clin Chim Acta 256: 197-201.
31. Chinnery, P, Majamaa, K, Tumbull, D and Thorbum, D (2006). Treatment for mitochondrial disorders. Cochrane Database Syst Rev 1 CD004426.
32. Elpeleg, ON, Saada, AB, Shaag, A, Glustein, JZ, Ruitenbeek W, Tein, I et al. (1997). Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria. Muscle Nerve 20: 238-240.
33. Palacino, JJ, Sagi, D, Goldberg, Ms, Krauss, S; Motz,C, Wacker, M et al. (2004). Mitochondrial dysfunction and oxidative damage in parkin-deficient mice, J Biol Chem 279:18614-18622.
34. Srere, P (1969). Citrate synthase. Methods Enzymol 13: 3-11.
35. Robinson, BH, Taylor, J and Sherwood, WG (1980). The genetic heterogeneity of lactic acidosis occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis. Pediatr Res 14: 956-962.