메뉴 건너뛰기




Volumn 23, Issue 1, 2010, Pages 13-22

High resolution NMR based analysis of serum lipids in Duchenne muscular dystrophy patients and its possible diagnostic significance

Author keywords

1H NMR spectroscopy; Cholesterol; DMD; Lipid extraction; Muscular dystrophy; Phospholipids; Serum lipid profile; Triglycerides

Indexed keywords

1H-NMR SPECTROSCOPY; LIPID EXTRACTION; MUSCULAR DYSTROPHY; NMR SPECTROSCOPY; SERUM LIPID;

EID: 75149121046     PISSN: 09523480     EISSN: 10991492     Source Type: Journal    
DOI: 10.1002/nbm.1419     Document Type: Article
Times cited : (44)

References (45)
  • 1
    • 0020082152 scopus 로고
    • Prevalence and incidence of muscular dystrophy in Alberta, Canada
    • Monckton G, Hoskin V, Warren S. Prevalence and incidence of muscular dystrophy in Alberta, Canada. Clin. Genet. 1982; 21: 19-24.
    • (1982) Clin. Genet , vol.21 , pp. 19-24
    • Monckton, G.1    Hoskin, V.2    Warren, S.3
  • 2
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 3
    • 56049106835 scopus 로고    scopus 로고
    • Duchenne muscular dystrophy
    • Yiu EM, Kornberg AJ. Duchenne muscular dystrophy. Neurol. India 2008; 56: 236-247.
    • (2008) Neurol. India , vol.56 , pp. 236-247
    • Yiu, E.M.1    Kornberg, A.J.2
  • 4
    • 0025272250 scopus 로고
    • Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
    • Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990; 345: 315-319.
    • (1990) Nature , vol.345 , pp. 315-319
    • Ervasti, J.M.1    Ohlendieck, K.2    Kahl, S.D.3    Gaver, M.G.4    Campbell, K.P.5
  • 5
    • 0035190381 scopus 로고    scopus 로고
    • The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies
    • Rando TA. The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies. Muscle Nerve 2001; 24: 1575-1594.
    • (2001) Muscle Nerve , vol.24 , pp. 1575-1594
    • Rando, T.A.1
  • 6
    • 0345683649 scopus 로고
    • 2nd edn. Oxford Medical Publications: Oxford
    • Emery AEH. Muscular Dystrophy, 2nd edn. Oxford Medical Publications: Oxford, 1993.
    • (1993) Muscular Dystrophy
    • Emery, A.E.H.1
  • 7
    • 0029020724 scopus 로고
    • The identification of point mutations in Duchenne muscular dystrophy using reverse transcript PCR and the protein truncation test
    • Gardner RJ, Bobrow M, Roberts RG. The identification of point mutations in Duchenne muscular dystrophy using reverse transcript PCR and the protein truncation test. Am. J. Hum. Genet. 1995; 57: 311-320.
    • (1995) Am. J. Hum. Genet , vol.57 , pp. 311-320
    • Gardner, R.J.1    Bobrow, M.2    Roberts, R.G.3
  • 8
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletion by polymerase chain reaction
    • Beggs AH, Koening M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletion by polymerase chain reaction. Hum. Genet. 1990; 86: 45-48.
    • (1990) Hum. Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koening, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 9
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey C. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988; 16: 11141-11156.
    • (1988) Nucleic Acids Res , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3    Nguyen, P.N.4    Caskey, C.5
  • 10
    • 0037160782 scopus 로고    scopus 로고
    • The muscular dystrophies
    • Emery AEH. The muscular dystrophies. Lancet 2002; 359: 687-695.
    • (2002) Lancet , vol.359 , pp. 687-695
    • Emery, A.E.H.1
  • 12
    • 0018923553 scopus 로고
    • Red blood cell alterations in muscular dystrophy: The role of lipids
    • Plishker GA, Appel SH. Red blood cell alterations in muscular dystrophy: the role of lipids. Muscle Nerve 1980; 3: 70-81.
    • (1980) Muscle Nerve , vol.3 , pp. 70-81
    • Plishker, G.A.1    Appel, S.H.2
  • 13
    • 33745434064 scopus 로고    scopus 로고
    • Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy
    • Oostendorp M, Engelke UF, Willemsen MA, Wevers RA. Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy. Clin. Chem. 2006; 52: 1395-1405.
    • (2006) Clin. Chem , vol.52 , pp. 1395-1405
    • Oostendorp, M.1    Engelke, U.F.2    Willemsen, M.A.3    Wevers, R.A.4
  • 14
    • 0028610022 scopus 로고
    • New clinical sign in Duchenne muscular dystrophy
    • Pradhan S. New clinical sign in Duchenne muscular dystrophy. Pediatr. Neurol. 1994; 11: 298-300.
    • (1994) Pediatr. Neurol , vol.11 , pp. 298-300
    • Pradhan, S.1
  • 15
    • 0036335628 scopus 로고    scopus 로고
    • Valley sign in Duchenne muscular dystrophy: Importance in patients with inconspicuous calves
    • Pradhan S. Valley sign in Duchenne muscular dystrophy: importance in patients with inconspicuous calves. Neurol. India 2002; 2: 184-186.
    • (2002) Neurol. India , vol.2 , pp. 184-186
    • Pradhan, S.1
  • 16
    • 0026691249 scopus 로고
    • HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: An alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation
    • Olerup O, Zetterquist H. HLA-DR typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation. Tissue Antigens 1992; 39: 225-235.
    • (1992) Tissue Antigens , vol.39 , pp. 225-235
    • Olerup, O.1    Zetterquist, H.2
  • 17
    • 75149135049 scopus 로고    scopus 로고
    • Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In PCR protocols. A Guide to Methods and Application. Academic Press: New York, 1990; 272-281.
    • Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT. Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In PCR protocols. A Guide to Methods and Application. Academic Press: New York, 1990; 272-281.
  • 18
    • 0026936289 scopus 로고
    • Detection of gene deletion in patients of Duchenne/Becker muscular dystrophy (D/BMD) patients using Polymerase chain reaction
    • Sinha S, Pradhan S, Mittal RD, Mittal B. Detection of gene deletion in patients of Duchenne/Becker muscular dystrophy (D/BMD) patients using Polymerase chain reaction. Indian J. Med. Res. 1992; 96: 297-301.
    • (1992) Indian J. Med. Res , vol.96 , pp. 297-301
    • Sinha, S.1    Pradhan, S.2    Mittal, R.D.3    Mittal, B.4
  • 20
    • 0035980912 scopus 로고    scopus 로고
    • Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients
    • Chaturvedi LS, Mukherjee M, Srivastava S, Mittal RD, Mittal B. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients. Exp. Mol. Med. 2001; 33: 251-256.
    • (2001) Exp. Mol. Med , vol.33 , pp. 251-256
    • Chaturvedi, L.S.1    Mukherjee, M.2    Srivastava, S.3    Mittal, R.D.4    Mittal, B.5
  • 21
    • 0031034656 scopus 로고    scopus 로고
    • Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients
    • Singh V, Sinha S, Mishra S, Chaturvedi LS, Pradhan S, Mittal RD, Mittal B. Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients. Hum. Genet. 1997; 99: 206-208.
    • (1997) Hum. Genet , vol.99 , pp. 206-208
    • Singh, V.1    Sinha, S.2    Mishra, S.3    Chaturvedi, L.S.4    Pradhan, S.5    Mittal, R.D.6    Mittal, B.7
  • 22
    • 50549160763 scopus 로고
    • A method for the estimation of serum creatine kinase and its use in comparing creatine kinase and aldolase activity in normal and pathological sera
    • Hughes BP. A method for the estimation of serum creatine kinase and its use in comparing creatine kinase and aldolase activity in normal and pathological sera. Clin. Chim. Acta 1962; 7: 597-603.
    • (1962) Clin. Chim. Acta , vol.7 , pp. 597-603
    • Hughes, B.P.1
  • 23
    • 75149181999 scopus 로고
    • The application of the diacetyl reaction to the estimation of creatine in urine
    • Ennor AH, Stocken LA. The application of the diacetyl reaction to the estimation of creatine in urine. Biochem. J. 1953; 55: 310-314.
    • (1953) Biochem. J , vol.55 , pp. 310-314
    • Ennor, A.H.1    Stocken, L.A.2
  • 24
    • 33644882531 scopus 로고    scopus 로고
    • An improved, single step standarderized method of lipid extraction from human skeletal muscle tissue
    • Srivastava N, Pradhan S, Mittal B, Kumar R, Gowda G. An improved, single step standarderized method of lipid extraction from human skeletal muscle tissue. Anal. Lett. 2006; 39: 297-315.
    • (2006) Anal. Lett , vol.39 , pp. 297-315
    • Srivastava, N.1    Pradhan, S.2    Mittal, B.3    Kumar, R.4    Gowda, G.5
  • 25
    • 0023953241 scopus 로고
    • A critical assessment of methods of measuring metabolite concentrations by NMR spectroscopy
    • Tofts PS, Wray S. A critical assessment of methods of measuring metabolite concentrations by NMR spectroscopy. NMR Biomed. 1988; 1: 1-10.
    • (1988) NMR Biomed , vol.1 , pp. 1-10
    • Tofts, P.S.1    Wray, S.2
  • 26
    • 0012853258 scopus 로고
    • Determination of absolute concentrations of metabolites from NMR spectra
    • Cady E. Determination of absolute concentrations of metabolites from NMR spectra. NMR Basic Princ. Prog. 1992; 26: 249-281.
    • (1992) NMR Basic Princ. Prog , vol.26 , pp. 249-281
    • Cady, E.1
  • 27
    • 41949134630 scopus 로고    scopus 로고
    • NMR spectroscopic identification of cholesterol esters, plasmalogen and phenolic glycolipids as fingerprint markers of human intracranial tuberculomas
    • Subramanian A, Shankar Joshi B, Roy AD, Roy R, Gupta V, Dang RS. NMR spectroscopic identification of cholesterol esters, plasmalogen and phenolic glycolipids as fingerprint markers of human intracranial tuberculomas. NMR Biomed. 2008; 21: 272-288.
    • (2008) NMR Biomed , vol.21 , pp. 272-288
    • Subramanian, A.1    Shankar Joshi, B.2    Roy, A.D.3    Roy, R.4    Gupta, V.5    Dang, R.S.6
  • 28
    • 75149189967 scopus 로고
    • Original Sanskrit text with English translation
    • III and IV. Shree Gulabkunverba Ayurvedic Society: Jamnagar India
    • Charak A. Charak Samhita (Original Sanskrit text with English translation), Vol. II, III and IV. Shree Gulabkunverba Ayurvedic Society: Jamnagar (India), 1949.
    • (1949) , vol.2
    • Charak Samhita, C.A.1
  • 29
    • 0020591254 scopus 로고
    • Concept of disorders of muscles in 'Charak Samhita', an ancient Indian medical treatise - relevance to modern myology
    • Gouri-Devi M, Venkatram BS. Concept of disorders of muscles in 'Charak Samhita', an ancient Indian medical treatise - relevance to modern myology. Neurol. India 1983; 31: 13-14.
    • (1983) Neurol. India , vol.31 , pp. 13-14
    • Gouri-Devi, M.1    Venkatram, B.S.2
  • 30
    • 0015464664 scopus 로고
    • Lipid composition and synthesis in the muscles of normal and dystrophic chickens
    • Chio LF, Peterson DW, Kratzer FH. Lipid composition and synthesis in the muscles of normal and dystrophic chickens. Can. J. Biochem. 1972; 50: 1267-1272.
    • (1972) Can. J. Biochem , vol.50 , pp. 1267-1272
    • Chio, L.F.1    Peterson, D.W.2    Kratzer, F.H.3
  • 31
    • 0017261351 scopus 로고
    • Phospholipid metabolism in murine muscular dystrophy
    • Kwok CT, Kuffer AD, Tang BY, Austin L. Phospholipid metabolism in murine muscular dystrophy. Exp. Neurol. 1976; 50: 362-375.
    • (1976) Exp. Neurol , vol.50 , pp. 362-375
    • Kwok, C.T.1    Kuffer, A.D.2    Tang, B.Y.3    Austin, L.4
  • 32
    • 0018178354 scopus 로고
    • Phospholipids composition and metabolism in mouse muscular dystrophy
    • Kwok CT, Austin L. Phospholipids composition and metabolism in mouse muscular dystrophy. Biochem. J. 1978; 176: 15-22.
    • (1978) Biochem. J , vol.176 , pp. 15-22
    • Kwok, C.T.1    Austin, L.2
  • 33
    • 70449192593 scopus 로고
    • Tissue lipids of dystrophia muscularis, a mouse with inherited muscular dystrophy
    • Shull RL, Alfin-Slater RB. Tissue lipids of dystrophia muscularis, a mouse with inherited muscular dystrophy. Proc. Soc. Exp. Biol. Med. 1958; 92: 403-405.
    • (1958) Proc. Soc. Exp. Biol. Med , vol.92 , pp. 403-405
    • Shull, R.L.1    Alfin-Slater, R.B.2
  • 35
    • 0032957008 scopus 로고    scopus 로고
    • Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family
    • Smith TA, Yau SC, Bobrow M, Abbs SJ. Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family. J. Med. Gen. 1999; 36: 313-315.
    • (1999) J. Med. Gen , vol.36 , pp. 313-315
    • Smith, T.A.1    Yau, S.C.2    Bobrow, M.3    Abbs, S.J.4
  • 37
    • 0007456913 scopus 로고
    • Elevated erythrocyte phospholipase A associated with Duchenne and myotonic muscular dystrophy
    • Iyer SL, Katyare SS, Howland JL. Elevated erythrocyte phospholipase A associated with Duchenne and myotonic muscular dystrophy. Neurosci. Lett. 1976; 2: 103-106.
    • (1976) Neurosci. Lett , vol.2 , pp. 103-106
    • Iyer, S.L.1    Katyare, S.S.2    Howland, J.L.3
  • 38
    • 0016206553 scopus 로고
    • Alternative pathways in the biosynthesis of sphingomyelin and the role of phosphatidylcholine, CDP-choline and phosphorylcholine as precursors
    • Marggraf WD, Anderer FA. Alternative pathways in the biosynthesis of sphingomyelin and the role of phosphatidylcholine, CDP-choline and phosphorylcholine as precursors. Hoppe-Seyler's Z. Physiol. Chem. 1974; 355: 803-810.
    • (1974) Hoppe-Seyler's Z. Physiol. Chem , vol.355 , pp. 803-810
    • Marggraf, W.D.1    Anderer, F.A.2
  • 39
    • 0015987808 scopus 로고
    • The enzymatic formation of sphingomyelin from ceramide in mouse liver
    • Ullman ML, Radin NS. The enzymatic formation of sphingomyelin from ceramide in mouse liver. J. Biol. Chem. 1974; 249: 1506-1512.
    • (1974) J. Biol. Chem , vol.249 , pp. 1506-1512
    • Ullman, M.L.1    Radin, N.S.2
  • 40
    • 0016692982 scopus 로고
    • Phospholipase C catalyzed formation of sphingomyelin - 14C from lecithin and N-(-14C)-oleoyl-sphingosine
    • Kanfer JN, Spielvogel CH. Phospholipase C catalyzed formation of sphingomyelin - 14C from lecithin and N-(-14C)-oleoyl-sphingosine. Lipids 1975; 10: 391-394.
    • (1975) Lipids , vol.10 , pp. 391-394
    • Kanfer, J.N.1    Spielvogel, C.H.2
  • 41
    • 0032910932 scopus 로고    scopus 로고
    • Correlation between cholesterol esterification, MDR1 gene expression and rate of cell proliferation in CEM and MOLT4 cell lines
    • Batetta B, Pani A, Putzolu M, Sanna F, Bonatesta R, Piras S, Spano O, Mulas MF, Dessi, S. Correlation between cholesterol esterification, MDR1 gene expression and rate of cell proliferation in CEM and MOLT4 cell lines. Cell Prolif. 1999; 32: 49-61.
    • (1999) Cell Prolif , vol.32 , pp. 49-61
    • Batetta, B.1    Pani, A.2    Putzolu, M.3    Sanna, F.4    Bonatesta, R.5    Piras, S.6    Spano, O.7    Mulas, M.F.8    Dessi, S.9
  • 42
    • 0019162068 scopus 로고
    • The cholesteryl ester cycle in macrophage from cells
    • Brown MS, Ho YK, Goldstein JL. The cholesteryl ester cycle in macrophage from cells. J. Biol. Chem. 1980; 255: 9344-9352.
    • (1980) J. Biol. Chem , vol.255 , pp. 9344-9352
    • Brown, M.S.1    Ho, Y.K.2    Goldstein, J.L.3
  • 43
    • 75149190777 scopus 로고    scopus 로고
    • Hyperlipidemia in 12 year-old children living in Tehran
    • Iran
    • Kotcharian A, Mohammadi A, Mojtahedzadeh R. Hyperlipidemia in 12 year-old children living in Tehran. Acta Med. Iran. 2000; 40: 20-25.
    • (2000) Acta Med , vol.40 , pp. 20-25
    • Kotcharian, A.1    Mohammadi, A.2    Mojtahedzadeh, R.3
  • 44
    • 33744952187 scopus 로고    scopus 로고
    • Evaluation of cardiovascular and lipid profile abnormalities in obese children and adolescents
    • Horri M, Vakili R. Evaluation of cardiovascular and lipid profile abnormalities in obese children and adolescents. Iran. J. Med. Sci. 2006; 31: 87-90.
    • (2006) Iran. J. Med. Sci , vol.31 , pp. 87-90
    • Horri, M.1    Vakili, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.