Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy

Human Mutation

Volumn 29, Issue 5, 2008, Pages 718-727

  Yao, Dengbing ^a   Mizuguchi, Hiroshi ^b   Yamaguchi, Miyoko ^a   Yamada, Hiroshi ^a   Chida, Junji ^a   Shikata, Koji ^b   Kido, Hiroshi ^a,c  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b OTSUKA PHARMACEUTICAL CO LTD   (Japan)

^c NONE   (Japan)

Author keywords

CPT2; Fatty acid oxidation; Mitochondrial; Thermal instability; Ubiquitin proteasome pathway

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; FATTY ACID;

ANIMAL CELL; ARTICLE; BRAIN DISEASE; BRAIN EDEMA; CONTROLLED STUDY; ENZYME ACTIVITY; FATTY ACID OXIDATION; FEVER; GENETIC TRANSFECTION; GENETIC VARIABILITY; INFLUENZA; KINETICS; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADENOSINE TRIPHOSPHATE; ANIMALS; BLOTTING, WESTERN; CARNITINE O-PALMITOYLTRANSFERASE; CERCOPITHECUS AETHIOPS; COS CELLS; ENCEPHALITIS, VIRAL; ENZYME STABILITY; HEAT; HUMANS; INFLUENZA, HUMAN; MEMBRANE POTENTIALS; MITOCHONDRIA; POLYMORPHISM, GENETIC; RNA, MESSENGER;

EID: 42949132101     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20717     Document Type: Article

References (48)

1. Bieber LL. 1988. Carnitine. Annu Rev Biochem 57:261-283.
2. Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L. 1999. Carnitine palmitoyltransferase deficiencies. Mol Genet Metab 68:424-440.
3. Bonnefont JP, Djouadi F, Prip-Buus C, Gobin S, Munnich A, Bastin J. 2004. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med 25:495-520.
4. Bradley M, Zeytun A, Rafi-Janajreh A, Nagarkatti PS, Nagarkatti M. 1998. Role of spontaneous and interleukin-2-induced natural killer cell activity in the cytotoxicity and rejection of Fas+ and Fas- tumor cells. Blood 92:4248-4255.
5. Bruce D, Perry DJ, Borg JY, Carrell RW, Wardell MR. 1994. Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn→Asp). J Clin Invest 94:2265-2274.
6. Chen Y, Mizuguchi H, Yao D, Ide M, Kuroda Y, Shigematsu Y, Yamaguchi S, Yamaguchi M, Kinoshita M, Kido H. 2005. Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy. FEBS Lett 579:2040-2044.
7. Delorme L, Middleton PJ. 1979. Influenza A virus associated with acute encephalopathy. Am J Dis Child 133:822-824.
8. Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Letoux JP, Saudubray JM. 1991. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87:859-864.
9. Denker BM, Nigam SK. 1998. Molecular structure and assembly of the tight junction. Am J Physiol 274:F1-F9.
10. DiMauro S, DiMauro PM. 1973. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 182:929-931.
11. Fujimoto S, Kobayashi M, Uemura O, Iwasa M, Ando T Katoh T, Nakamura C, Maki N, Togari H, Wada Y 1998. PCR on cerebrospinal fluid to show influenza-associated acute encephalopathy or encephalitis. Lancet 352:873-875.
12. Gopalakrishnan S, Hallett MA, Atkinson SJ, Marrs JA. 2007. aPKC-PAR complex dysfunction and tight junction disassembly in renal epithelial cells during ATP depletion. Am J Physiol Cell Physiol 292:C1094-C1102.
13. Gregersen N, Bross P, Jorgensen MM, Corydon TJ, Andresen BS. 2000. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders. J Inherit Metab Dis 23:441-447.
14. Hashimoto K, Kato Z, Nagase T, Shimozawa N, Kuwata K, Omoya K, Li A, Matsukuma E, Yamamoto Y, Ohnishi H, Tochio H, Shirakawa M, Suzuki Y, Wanders RJ, Kondo N. 2005. Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder. Pediatr Res 58:263-269.
15. Hug G, Bove KE, Soukup S. 1991. Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 325:1862-1864.
16. Isackson PJ, Bennett MJ, Vladutiu GD. 2006. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. Mol Genet Metab 89:323-331.
17. Kasai T Togashi T, Morishima T 2000. Encephalopathy associated with influenza epidemics. Lancet 355:1558-1559.
18. Kerner J, Bieber L. 1990. Isolation of a malonyl-CoA-sensitive CPT/beta-oxidation enzyme complex from heart mitochondria. Biochemistry 29:4326-4334.
19. Laemmli UK. 1970. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685.
20. Lee S, Jeong SY, Lim WC, Kim S, Park YY, Sun X, Youle RJ, Cho H. 2007. Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence. J Biol Chem 282:22977-22983.
21. McGarry JD, Foster DW. 1980. Systemic carnitine deficiency. N Engl J Med 303:1413-1415.
22. McGarry JD, Mills SE, Long CS, Foster DW 1983. Observations on the affinity for carnitine, and malonyl-CoA sensitivity, of carnitine palmitoyltransferase I in animal and human tissues. Demonstration of the presence of malonyl-CoA in non-hepatic tissues of the rat. Biochem J 214:21-28.
23. Morishima T, Togashi T, Yokota S, Okuno Y, Miyazaki C, Tashiro M, Okabe N. 2002. Encephalitis and encephalopathy associated with an influenza epidemic in Japan. Clin Infect Dis 35:512-517.
24. Murthy MS, Pande SV. 1987. Some differences in the properties of carnitine palmitoyltransferase activities of the mitochondrial outer and inner membranes. Biochem J 248:727-733.
25. Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ. 2003. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. J Inherit Metab Dis 26:543-557.
26. Ørngreen MC, Dunø M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, Vissing J. 2005. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. Ann Neurol 57:60-66.
27. Plateel M, Dehouck MR Torpier G, Cecchelli R, Teissier E. 1995. Hypoxia increases the susceptibility to oxidant stress and the permeability of the blood-brain barrier endothelial cell monolayer. J Neurochem 65:2138-2145.
28. Ronnett GV, Kim EK, Landree LE, Tu Y. 2005. Fatty acid metabolism as a target for obesity treatment. Physiol Behav 85:25-35.
29. Rossignol R, Malgat M, Mazat JP, Letellier T 1999. Threshold effect and tissue specificity. Implication for mitochondrial cytopathies. J Biol Chem 274:33426-33432.
30. Rossignol R, Letellier T, Malgat M, Rocher C, Mazat JP. 2000. Tissue variation in the control of oxidative phosphorylation: implication for mitochondrial diseases. Biochem J 347:45-53.
31. Rossignol R, Faustin B, Rocher C, Malgat M, Mazat JP, Letellier T 2003. Mitochondrial threshold effects. Biochem J 370:751-762.
32. Rufer AC, Thoma R, Benz J, Stihle M, Gsell B, De Roo E, Banner DW, Mueller F, Chomienne O, Hennig M. 2006. The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment. Structure 14: 713-723.
33. Saudubray JM, Coude FX, Demaugre F, Johnson C, Gibson KM, Nyhan WL. 1982. Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation. Pediatr Res 16:877-881.
34. Taggart RT, Smail D, Apolito C, Vladutiu GD. 1999. Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat 13:210-220.
35. Tamaoki Y, Kimura M, Hasegawa Y, Iga M, Inoue M, Yamaguchi S. 2002. A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000. Brain Dev 24:675-680.
36. Taroni F, Verderio E, Fiorucci S, Cavadini R Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S. 1992. Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci USA 89:8429-8433.
37. Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JR 2003. Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. Hum Mutat 21:493-501.
38. Verderio E, Cavadini R Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F. 1995. Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 4:19-29.
39. Vermeulen W, Rademakers S, Jaspers NG, Appeldoorn E, Raams A, Klein B, Kleijer WJ, Hansen LK, Hoeijmakers JH. 2001. A temperature-sensitive disorder in basal transcription and DNA repair in humans. Nat Genet 27:299-303.
40. Vissing J, Gansted U, Quistorff B. 2001. Exercise intolerance in mitochondrial myopathy is not related to lactic acidosis. Ann Neurol 49:672-676.
41. Wataya K, Akanuma J, Cavadini R Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K. 1998. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat 11:377-386.
42. Weiser M, Frishman WH, Michaelson MD, Abdeen MA. 1997. The pharmacologic approach to the treatment of obesity. J Clin Pharmacol 37:453-173.
43. Yang BZ, Ding JH, Roe D, Dewese T, Day DW, Roe CR. 1998a. A novel mutation identified in carnitine palmitoyltransferase II deficiency. Mol Genet Metab 63:110-115.
44. Yang BZ, Ding JH, Dewese T, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C. 1998b. Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. Mol Genet Metab 64:229-236.
45. Yao KW, Schulz H. 1996. Intermediate channeling on the trifunctional beta-oxidation complex from pig heart mitochondria. J Biol Chem 271:17816-17820.
46. Yokota S, Imagawa T, Miyamae T, Ito S, Nakajima S, Nezu A, Mori M. 2000. Hypothetical pathophysiology of acute encephalopathy and encephalitis related to influenza virus infection and hypothermia therapy. Pediatr Int 42:197-203.
47. Zierz S. 1994. Limited trypsin proteolysis renders carnitine palmitoyl-transferase insensitive to inhibition by malonyl-CoA in patients with muscle carnitine palmitoyltransferase deficiency. Clin Investig 72:957-960.
48. Zinkham WH, Liljestrand JD, Dixon SM, Hutchison JL. 1979. Observations on the rate and mechanism of hemolysis in individuals with Hb Zurich [His E7(63)β leads to Arg]: II. Thermal denaturation of hemoglobin as a cause of anemia during fever. Johns Hopkins Med J 144:109-115.