Only fat infiltrated muscles in resting lower leg of FSHD patients show disturbed energy metabolism

NMR in Biomedicine

Volumn 23, Issue 6, 2010, Pages 563-568

  Kan, H E ^a   Klomp, D W J ^a   Wohlgemuth, M ^b   Van Loosbroek Wagemans, I ^a   Van Engelen, B G M ^b   Padberg, G W ^b   Heerschap, A ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

31P MRSI; Facioscapulohumeral muscular dystrophy; Fatty infiltration; MRI

Indexed keywords

ESTERS; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; METABOLISM; RESONANCE; SEEPAGE; SOIL MECHANICS; THREE DIMENSIONAL;

31P MRSI; CALF MUSCLE; DISEASE PROGRESSION; ENERGY METABOLISM; INORGANIC PHOSPHATES; LOWER LEG; MAGNETIC RESONANCE SPECTROSCOPIC IMAGING; MR IMAGES; MUSCULAR DYSTROPHY; PATHOPHYSIOLOGY; PHOSPHODIESTERS; SKELETAL MUSCLE; VISUAL ASSESSMENTS;

MUSCLE;

ADENOSINE TRIPHOSPHATE; CREATINE PHOSPHATE; FAT; PHOSPHATE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENERGY METABOLISM; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GASTROCNEMIUS MUSCLE; HUMAN; LOWER LEG; MALE; PH; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; REST; ANATOMY AND HISTOLOGY; LEG; METABOLISM; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PROCEDURES; SKELETAL MUSCLE; YOUNG ADULT;

ADULT; AGED; ENERGY METABOLISM; FEMALE; HUMANS; LEG; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; YOUNG ADULT;

EID: 77955105979     PISSN: 09523480     EISSN: 10991492     Source Type: Journal    
DOI: 10.1002/nbm.1494     Document Type: Article

References (31)

1. Padberg GW. Facioscapulohumeral disease [dissertation]. Leiden University: Leiden, 1982.
2. Upadhyaya M, Cooper DN. Introduction and overview of FSHD. In Upadhyaya M, Cooper DN (editors). FSHD Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology. Garland/BIOS Scientific Publishers Limited: Abingdon, 2004; 1-16.
3. Argov Z, Lofberg M, Arnold DL. Insights into muscle diseases gained by phosphorus magnetic resonance spectroscopy. Muscle Nerve. 2000; 23(9): 1316-1334.
4. Sookhoo S, Mackinnon I, Bushby K, Chinnery PF, Birchall D. MRI for the demonstration of subclinical muscle involvement in muscular dystrophy. Clin. Radiol. 2007; 62(2): 160-165.
5. Medical Research Council. Aids to the Investigation of Peripheral Nerve Injuries. Her Majesty's Stationary Office: London, 1976.
6. Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann. Neurol. 1999; 45(6): 751-757.
7. Klomp DW, Renema WK, van der GM, de Galan BE, Kentgens AP, Heerschap A. Sensitivity-enhanced 13C MR spectroscopy of the human brain at 3Tesla. Magn. Reson. Med. 2006; 55(2): 271-278.
8. Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F. Muscle MRI in inherited neuromuscular disorders: past, present, and future. J. Magn. Reson. Imaging 2007; 25(2): 433-440.
9. Staewen RS, Johnson AJ, Ross BD, Parrish T, Merkle H, Garwood M. 3-D FLASH imaging using a single surface coil and a new adiabatic pulse, BIR-4. Invest. Radiol. 1990; 25(5): 559-567. (Pubitemid 20173102)
10. Pohmann R, von KM. Accurate phosphorus metabolite images of the human heart by 3D acquisition-weighted CSI. Magn. Reson. Med. 2001; 45(5): 817-826.
11. http:sermn02.uab.es/mrui/.
12. Luyten PR, Bruntink G, Sloff FM, Vermeulen JW, van der Heijden JI, den Hollander JA, Heerschap A. Broadband proton decoupling in human 31P NMR spectroscopy. NMR Biomed. 1989; 1(4): 177-183.
13. 31P- metabolites in human calf muscle at 3 T. Magn. Reson. Med. 2003; 49(4): 620-625.
14. Taylor DJ, Bore PJ, Styles P, Gadian DG, Radda GK. Bioenergetics of intact human muscle. A 31P nuclear magnetic resonance study. Mol. Biol. Med. 1983; 1(1): 77-94.
15. Olsen DB, Gideon P, Jeppesen TD, Vissing J. Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. J. Neurol. 2006; 253(11): 1437-1441.
16. Kan HE, Scheenen TW, Wohlgemuth M, Klomp DW, van Loosbroek-Wagenmans I, Padberg GW, Heerschap A. Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul. Disord. 2010; 19(5): 357-362.
17. Wren TA, Bluml S, Tseng-Ong L, Gilsanz V. Three-point technique of fat quantification of muscle tissue as a marker of disease progression in Duchenne muscular dystrophy: preliminary study. AJR Am. J. Roentgenol. 2008; 190(1): W8-12.
18. Iosa M, Mazza C, Frusciante R, Zok M, Aprile I, Ricci E, Cappozzo A. Mobility assessment of patients with facioscapulohumeral dystrophy. Clin. Biomech. (Bristol, Avon) 2007; 22(10): 1074-1082.
19. van der Kooi EL, de Leeuw GE, Vlak MH, Hendriks JC, Padberg GW, Vogels OJ. An unbiased and efficient computerised tomography method to quantify muscle and adipose tissue volume in neuromuscular patients. Neurol. Sci. 2006; 26(6): 423-429.
20. Tarnopolsky MA, Parise G. Direct measurement of high-energy phosphate compounds in patients with neuromuscular disease. Muscle Nerve 1999; 22(9): 1228-1233.
21. in 't Zandt HJ, Groof AJ, Renema WK, Oerlemans FT, Klomp DW, Wieringa B, Heerschap A. Presence of (phospho)creatine in developing and adult skeletal muscle of mice without mitochondrial and cytosolic muscle creatine kinase isoforms. J. Physiol. 2003; 548(Pt 3): 847-858.
22. Kemp GJ, Taylor DJ, Dunn JF, Frostick SP, Radda GK. Cellular energetics of dystrophic muscle. J. Neurol. Sci. 1993; 116(2): 201-206.
23. Heerschap A, den Hollander JA, Reynen H, Goris RJ. Metabolic changes in reflex sympathetic dystrophy: a 31P NMR spectroscopy study. Muscle Nerve 1993; 16(4): 367-373. (Pubitemid 23094100)
24. Barnes PR, Kemp GJ, Taylor DJ, Radda GK. Skeletal muscle metabolism in myotonic dystrophy A 31P magnetic resonance spectroscopy study. Brain. 1997; 120(Pt 10): 1699-1711.
25. Taylor DJ, Kemp GJ, Radda GK. Bioenergetics of skeletal muscle in mitochondrial myopathy. J. Neurol. Sci. 1994; 127(2): 198-206.
26. Lodi R, Kemp GJ, Muntoni F, Thompson CH, Rae C, Taylor J, Styles P, Taylor DJ. Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy. An in vivo 31P magnetic resonance spectroscopy study. Brain. 1999; 122(Pt 1): 121-130.
27. Sharma U, Atri S, Sharma MC, Sarkar C, Jagannathan NR. Skeletal muscle metabolism in Duchenne muscular dystrophy (DMD): an in-vitro proton NMR spectroscopy study. Magn. Reson. Imaging 2003; 21(2): 145-153.
28. Sharma U, Atri S, Sharma MC, Sarkar C, Jagannathan NR. Biochemical characterization of muscle tissue of limb girdle muscular dystrophy: an 1H and 13C NMR study. NMR Biomed. 2003; 16(4): 213-223.
29. Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M. Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proc. Natl. Acad. Sci. USA 2009; 106(15): 6220-6225.
30. Barbiroli B, Funicello R, Iotti S, Montagna P, Ferlini A, Zaniol P. 31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport. J. Neurol. Sci. 1992; 109(2): 188-195.
31. Barbiroli B, Funicello R, Ferlini A, Montagna P, Zaniol P. Muscle energy metabolism in female DMD/BMD carriers: a 31P-MR spectroscopy study. Muscle Nerve 1992; 15(3): 344-348.