Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1

Analytical and Bioanalytical Chemistry

Volumn 405, Issue 4, 2013, Pages 1345-1351

  Purevsuren, Jamiyan ^a,d   Kobayashi, Hironori ^a   Hasegawa, Yuki ^a   Yamada, Kenji ^a   Takahashi, Tomoo ^a   Takayanagi, Masaki ^b   Fukao, Toshiyuki ^c   Fukuda, Seiji ^a   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY   (Japan)

^b CHIBA CHILDREN'S HOSPITAL   (Japan)

^c GIFU UNIVERSITY   (Japan)

^d Medical Genetics Laboratory   (Mongolia)

Author keywords

Acylcarnitine profile; Carnitine cycle disorder; ESI MS MS; Fatty acid oxidation

Indexed keywords

DEFECTS; ENZYMES; MASS SPECTROMETRY; NANORODS; PROBES;

ACYLCARNITINE; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; CELLULAR UPTAKE; ESI-MS/MS; FATTY ACID OXIDATION; SPECIFIC PROFILE; TANDEM MASS SPECTROMETRY;

FATTY ACIDS;

EID: 84873746214     PISSN: 16182642     EISSN: 16182650     Source Type: Journal    
DOI: 10.1007/s00216-012-6532-3     Document Type: Article

References (23)

1. McGarry JD, Brown NF (1997) The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. Eur J Biochem 244:1-14
2. Sim KG, Hammond J, Wilcken B (2002) Strategies for the diagnosis of mitochondrial fatty acid beta-oxidation disorders. Clin Chim Acta 323:37-58
3. Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A et al (1998) Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. J Biol Chem 273:20378-20382
4. Treem WR, Stanley CA, Finegold DN, Hale DE, Coates PM (1988) Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. N Engl J Med 319:1331-1336
5. Eriksson BO, Gustafson B, Lindstedt S, Nordin I (1989) Transport of carnitine into cells in hereditary carnitine deficiency. J Inherit Metab Dis 12:108-111
6. Longo N, di San A, Filippo C, Pasquali M (2006) Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet 142C:77-85
7. Nakajima Y, Ito T, Maeda Y, Ichiki S, Sugiyama N et al (2010) Detection of pivaloylcarnitine in pediatric patients with hypocarnitinemia after long-term administration of pivalate-containing antibiotics. Tohoku J Exp Med 221:309-313
8. Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M et al (2010) Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial l-carnitine supplementation. Tohoku J Exp Med 221:191-195
9. Tein I, DiMauro S, Xie ZW, De Vivo DC (1993) Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency. Pediatr Res 34:281-287
10. Pons R, Carrozzo R, Tein I, Walker WF, Addonizio LJ et al (1997) Deficient muscle carnitine transport in primary carnitine deficiency. Pediatr Res 42:583-587
11. Scaglia F, Wang Y, Longo N (1999) Functional characterization of the carnitine transporter defective in primary carnitine deficiency. Arch Biochem Biophys 364:99-106
12. Wang Y, Ye J, Ganapathy V, Longo N (1999) Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. Proc Natl Acad Sci U S A 96:2356-2360
13. Endo M, Hasegawa Y, Fukuda S, Kobayashi H, Yotsumoto Y et al (2010) In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2. J Chromatogr B Analyt Technol Biomed Life Sci 878:1673-1676
14. Law LK, Tang NL, Hui J, Ho CS, Ruiter J et al (2007) A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry. Clin Chim Acta 382:25-30
15. Okun JG, Kolker S, Schulze A, Kohlmuller D, Olgemoller K et al (2002) A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta 1584:91-98
16. Jauregui O, Sierra AY, Carrasco P, Gratacos E, Hegardt FG et al (2007) A new LC-ESI-MS/MS method to measure long-chain acylcarnitine levels in cultured cells. Anal Chim Acta 599:1-6
17. Ventura FV, Costa CG, Struys EA, Ruiter J, Allers P et al (1999) Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta 281:1-17
18. Li H, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J et al (2010) Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay. Brain Dev 32:362-370
19. Bradford MM (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254
20. Honma Y, Ishii Y, Yamamoto-Yamaguchi Y, Sassa T, Asahi K (2003) Cotylenin A, a differentiation-inducing agent, and IFN-alpha cooperatively induce apoptosis and have an antitumor effect on human non-small cell lung carcinoma cells in nude mice. Cancer Res 63:3659-3666
21. Schulze-Bergkamen A, Okun JG, Spiekerkotter U, Lindner M, Haas D et al (2005) Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders. Pediatr Res 58:873-880
22. Tein I, De Vivo DC, Bierman F, Pulver P, De Meirleir LJ et al (1990) Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 28:247-255
23. Stanley CA (1987) New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency. Adv Pediatr Infect Dis 34:59-88