메뉴 건너뛰기




Volumn 382, Issue 1-2, 2007, Pages 25-30

A novel functional assay for simultaneous determination of total fatty acid β-oxidation flux and acylcarnitine profiling in human skin fibroblasts using 2H31-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry

Author keywords

Acylcarnitine profiling; Deuterated water enrichment; Isotope ratio mass spectrometry; Mitochondrial fatty acid oxidation; Universal deuterium labeled palmitate

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARNITINE; DEUTERIUM; DEUTERIUM OXIDE; FATTY ACID; GLUCOSE; MYRISTIC ACID; PALMITIC ACID;

EID: 34249108577     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2007.03.011     Document Type: Article
Times cited : (17)

References (31)
  • 1
    • 50549202600 scopus 로고
    • The glucose fatty-acid cycle - its role in insulin sensitivity and the metabolic disturbances of diabetes mellitus
    • Randle P.J., Garland P.B., Hales C.N., et al. The glucose fatty-acid cycle - its role in insulin sensitivity and the metabolic disturbances of diabetes mellitus. Lancet 281 (1963) 785-789
    • (1963) Lancet , vol.281 , pp. 785-789
    • Randle, P.J.1    Garland, P.B.2    Hales, C.N.3
  • 2
    • 0029902428 scopus 로고    scopus 로고
    • Mammalian mitochondrial β-oxidation
    • Eaton S., Barlett K., and Pourfarzam M. Mammalian mitochondrial β-oxidation. Biochem J 320 (1996) 345-357
    • (1996) Biochem J , vol.320 , pp. 345-357
    • Eaton, S.1    Barlett, K.2    Pourfarzam, M.3
  • 3
    • 0032969196 scopus 로고    scopus 로고
    • Defects in activation and transport of fatty acids
    • Brivet M., Boutron A., Slama A., et al. Defects in activation and transport of fatty acids. J Inherit Metab Dis 22 (1999) 428-441
    • (1999) J Inherit Metab Dis , vol.22 , pp. 428-441
    • Brivet, M.1    Boutron, A.2    Slama, A.3
  • 4
    • 0032969056 scopus 로고    scopus 로고
    • Disorders of mitochondrial fatty acyl-CoA β-oxidation
    • Wanders R.J.A., Vreken P., den Boer M.E.J., et al. Disorders of mitochondrial fatty acyl-CoA β-oxidation. J Inherit Metab Dis 22 (1999) 442-487
    • (1999) J Inherit Metab Dis , vol.22 , pp. 442-487
    • Wanders, R.J.A.1    Vreken, P.2    den Boer, M.E.J.3
  • 5
    • 0032732526 scopus 로고    scopus 로고
    • Recent developments in the investigation of inherited metabolic disorders using cultured human cells
    • Roe C.R., and Roe D.S. Recent developments in the investigation of inherited metabolic disorders using cultured human cells. Molec Genet Metab 68 (1999) 243-257
    • (1999) Molec Genet Metab , vol.68 , pp. 243-257
    • Roe, C.R.1    Roe, D.S.2
  • 7
    • 0036062553 scopus 로고    scopus 로고
    • Strategies for the diagnosis of mitochondrial fatty acid β-oxidation disorders
    • Sim K.G., Hammond J., and Wlcken B. Strategies for the diagnosis of mitochondrial fatty acid β-oxidation disorders. Clin Chim Acta 323 (2002) 37-58
    • (2002) Clin Chim Acta , vol.323 , pp. 37-58
    • Sim, K.G.1    Hammond, J.2    Wlcken, B.3
  • 8
    • 0842330592 scopus 로고    scopus 로고
    • Genetics defects in fatty acid β-oxidation and acyl-CoA dehydrogenases: molecular pathogenesis and genotype-phenotype relationships
    • Gregersen N., Bross P., and Andresen B.S. Genetics defects in fatty acid β-oxidation and acyl-CoA dehydrogenases: molecular pathogenesis and genotype-phenotype relationships. Eur J Biochem 271 (2004) 470-482
    • (2004) Eur J Biochem , vol.271 , pp. 470-482
    • Gregersen, N.1    Bross, P.2    Andresen, B.S.3
  • 9
    • 0000044868 scopus 로고    scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Scriver C.R., Sly W.S., Childs B., Beaudet A.L., Valle D., Kinzier K.W., and Bert Vogelstein B. (Eds), McGraw-Hill, New York
    • Roe C.R., and Ding J. Mitochondrial fatty acid oxidation disorders. In: Scriver C.R., Sly W.S., Childs B., Beaudet A.L., Valle D., Kinzier K.W., and Bert Vogelstein B. (Eds). The Metabolic and Molecular Bases of Inherited Diseases (2001), McGraw-Hill, New York 2297-2326
    • (2001) The Metabolic and Molecular Bases of Inherited Diseases , pp. 2297-2326
    • Roe, C.R.1    Ding, J.2
  • 10
    • 0034749034 scopus 로고    scopus 로고
    • Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong
    • Tang N.L.S., Hui J., Law L.K., et al. Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong. Clin Chim Acta 313 (2001) 195-201
    • (2001) Clin Chim Acta , vol.313 , pp. 195-201
    • Tang, N.L.S.1    Hui, J.2    Law, L.K.3
  • 11
    • 2942718834 scopus 로고    scopus 로고
    • A new diagnostic test for VLCAD deficiency using immunohistochemistry
    • Ohashi Y., Hasegawa Y., Murayama K., et al. A new diagnostic test for VLCAD deficiency using immunohistochemistry. Neurology 62 (2004) 2209-2213
    • (2004) Neurology , vol.62 , pp. 2209-2213
    • Ohashi, Y.1    Hasegawa, Y.2    Murayama, K.3
  • 12
    • 0033987778 scopus 로고    scopus 로고
    • Human gene mutation database - a biochemical information and research resource
    • [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ACADVL public domain updated in 2006]
    • Krawczak M., Ball E.V., Fenton I., et al. Human gene mutation database - a biochemical information and research resource. Human Mutat 15 (2000) 45-51. http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ACADVL [http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ACADVL public domain updated in 2006]
    • (2000) Human Mutat , vol.15 , pp. 45-51
    • Krawczak, M.1    Ball, E.V.2    Fenton, I.3
  • 13
    • 14544306001 scopus 로고    scopus 로고
    • Establishing a reference interval for measurement of flux through the mitochondrial fatty acid oxidation pathway in cultured skin fibroblasts
    • Narayan S.B., Boriack R.L., Messmer B., et al. Establishing a reference interval for measurement of flux through the mitochondrial fatty acid oxidation pathway in cultured skin fibroblasts. Clin Chem 51 (2005) 644-646
    • (2005) Clin Chem , vol.51 , pp. 644-646
    • Narayan, S.B.1    Boriack, R.L.2    Messmer, B.3
  • 14
    • 0020570022 scopus 로고
    • 14C]octanoate oxidation and medium-chain acyl-coA dehydrogenase in fibroblasts
    • 14C]octanoate oxidation and medium-chain acyl-coA dehydrogenase in fibroblasts. Science NY 221 (1983) 73-75
    • (1983) Science NY , vol.221 , pp. 73-75
    • Rhead, W.J.1    Amendt, B.A.2    Fritchman, K.S.3
  • 15
    • 0022273039 scopus 로고
    • 14C-Labeled substrate catabolism by human diploid fibroblasts derived from infants and adults
    • 14C-Labeled substrate catabolism by human diploid fibroblasts derived from infants and adults. Biochem Med 34 (1985) 182-188
    • (1985) Biochem Med , vol.34 , pp. 182-188
    • Rhead, W.J.1    Moon, A.2    Roettger, V.3
  • 16
    • 0023155640 scopus 로고
    • Complementation analysis of fatty acid oxidation disorders
    • Moon A., and Rhead W.L. Complementation analysis of fatty acid oxidation disorders. J Clin Invest 79 (1987) 59-64
    • (1987) J Clin Invest , vol.79 , pp. 59-64
    • Moon, A.1    Rhead, W.L.2
  • 17
    • 0025343588 scopus 로고
    • 3H]myritic acids for the detection of fatty acid oxidation defects in intact cultured fibroblasts
    • 3H]myritic acids for the detection of fatty acid oxidation defects in intact cultured fibroblasts. J Inherit Metab Dis 13 (1990) 58-68
    • (1990) J Inherit Metab Dis , vol.13 , pp. 58-68
    • Manning, N.J.1    Olpin, S.E.2    Pollitt, R.J.3
  • 18
    • 0033037321 scopus 로고    scopus 로고
    • 13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects
    • 13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta 281 (1999) 1-17
    • (1999) Clin Chim Acta , vol.281 , pp. 1-17
    • Ventura, F.V.1    Costa, C.G.2    Struys, E.A.3
  • 19
    • 0037057759 scopus 로고    scopus 로고
    • A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabeled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency
    • Okun J.G., Kolker S., Schulze A., et al. A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabeled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta 1584 (2002) 91-98
    • (2002) Biochim Biophys Acta , vol.1584 , pp. 91-98
    • Okun, J.G.1    Kolker, S.2    Schulze, A.3
  • 20
    • 29344463846 scopus 로고    scopus 로고
    • Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts
    • Roe D.S., Yang B.Z., Vianey-Saban C., et al. Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. Mol Genet Metab 87 (2006) 40-47
    • (2006) Mol Genet Metab , vol.87 , pp. 40-47
    • Roe, D.S.1    Yang, B.Z.2    Vianey-Saban, C.3
  • 21
    • 0034907699 scopus 로고    scopus 로고
    • Validation of deuterium labeled fatty acids for the measurement of dietary fat oxidation: a method for measuring fat-oxidation in free-living subjects
    • Votruba S.B., Zeddun S.M., and Schoeller D.A. Validation of deuterium labeled fatty acids for the measurement of dietary fat oxidation: a method for measuring fat-oxidation in free-living subjects. Int J Obes Relat Metab Disord 25 (2001) 1240-1245
    • (2001) Int J Obes Relat Metab Disord , vol.25 , pp. 1240-1245
    • Votruba, S.B.1    Zeddun, S.M.2    Schoeller, D.A.3
  • 22
    • 10044275527 scopus 로고    scopus 로고
    • Validation of deuterium-labeled fatty acids for the measurement of dietary oxidation during physical activity
    • Raman A., Blanc S., Adams A., et al. Validation of deuterium-labeled fatty acids for the measurement of dietary oxidation during physical activity. J Lipid Res 45 (2004) 2339-2344
    • (2004) J Lipid Res , vol.45 , pp. 2339-2344
    • Raman, A.1    Blanc, S.2    Adams, A.3
  • 23
    • 0036881550 scopus 로고    scopus 로고
    • Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test
    • Renaud D.L., Edwards V., Wilson G.J., et al. Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test. J Inherit Metab Dis 7 (2002) 547-555
    • (2002) J Inherit Metab Dis , vol.7 , pp. 547-555
    • Renaud, D.L.1    Edwards, V.2    Wilson, G.J.3
  • 24
    • 84870557540 scopus 로고
    • Evaluation of the trypan blue technique for determination of cell viability
    • Tennant J.R. Evaluation of the trypan blue technique for determination of cell viability. Transplantation 12 (1964) 685-694
    • (1964) Transplantation , vol.12 , pp. 685-694
    • Tennant, J.R.1
  • 25
    • 71849104860 scopus 로고
    • Protein measurement with the Folin phenol reagent
    • Lowry O.H., Rosebrough N.J., Farr A.L., et al. Protein measurement with the Folin phenol reagent. J Biol Chem 193 (1951) 265-275
    • (1951) J Biol Chem , vol.193 , pp. 265-275
    • Lowry, O.H.1    Rosebrough, N.J.2    Farr, A.L.3
  • 26
    • 0031946287 scopus 로고    scopus 로고
    • Hydrogen isotope determination for small-size water samples using an equilibration technique
    • Thielecke F., and Noack R. Hydrogen isotope determination for small-size water samples using an equilibration technique. J Mass Spectrom 33 (1998) 342-345
    • (1998) J Mass Spectrom , vol.33 , pp. 342-345
    • Thielecke, F.1    Noack, R.2
  • 27
    • 0142195901 scopus 로고    scopus 로고
    • A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency
    • Young S.P., Matern D., Gregersen N., et al. A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clin Chim Acta 337 (2003) 103-113
    • (2003) Clin Chim Acta , vol.337 , pp. 103-113
    • Young, S.P.1    Matern, D.2    Gregersen, N.3
  • 28
    • 0026343898 scopus 로고
    • Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation
    • Kler R.S., Jackson S., Bartlett K., et al. Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. J Biol Chem 266 (1991) 22932-22938
    • (1991) J Biol Chem , vol.266 , pp. 22932-22938
    • Kler, R.S.1    Jackson, S.2    Bartlett, K.3
  • 29
    • 0031018401 scopus 로고    scopus 로고
    • Quantitative profiling of plasma acylcarnitines using gas chromatography stable isotope chemical ionization mass fragmentography
    • Costa C.G., Struys E.A., Bootsma A., et al. Quantitative profiling of plasma acylcarnitines using gas chromatography stable isotope chemical ionization mass fragmentography. J Lipid Res 38 (1997) 173-182
    • (1997) J Lipid Res , vol.38 , pp. 173-182
    • Costa, C.G.1    Struys, E.A.2    Bootsma, A.3
  • 30
    • 0031847509 scopus 로고    scopus 로고
    • Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain
    • Venizelos N., von Dobeln U., and Hagenfeldt L. Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain. J Inherit Metab Dis 21 (1998) 409-415
    • (1998) J Inherit Metab Dis , vol.21 , pp. 409-415
    • Venizelos, N.1    von Dobeln, U.2    Hagenfeldt, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.