Impaired muscle uptake of creatine in spinal and bulbar muscular atrophy

Annals of Clinical and Translational Neurology

Volumn , Issue , 2016, Pages 537-546

  Hijikata, Yasuhiro ^a   Katsuno, Masahisa ^a   Suzuki, Keisuke ^a,b   Hashizume, Atsushi ^a   Araki, Amane ^a   Yamada, Shinichiro ^a   Inagaki, Tomonori ^a   Iida, Madoka ^a   Noda, Seiya ^a   Nakanishi, Hirotaka ^a   Banno, Haruhiko ^a,c   Mano, Tomoo ^a   Hirakawa, Akihiro ^a   Adachi, Hiroaki ^a,d   Watanabe, Hirohisa ^a   Yamamoto, Masahiko ^e   Sobue, Gen ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

^c NAGOYA UNIVERSITY   (Japan)

^d UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^e AICHI GAKUIN UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; CREATININE; CYSTATIN C; POLYGLUTAMINE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; CREATININE BLOOD LEVEL; DISEASE CONTROL; DISEASE SEVERITY; DUAL ENERGY X RAY ABSORPTIOMETRY; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; KENNEDY DISEASE; MAJOR CLINICAL STUDY; MALE; MUSCLE MASS; MYASTHENIA GRAVIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION;

EID: 85018237348     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.324     Document Type: Article

References (40)

1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait. Neurology 1968 Jul;18:671–680.
2. Sobue G, Hashizume Y, Mukai E, et al. X-linked recessive bulbospinal neuronopathy. A clinicopathological study. Brain 1989;112 (Pt 1):209–232.
3. Fischbeck KH. Kennedy disease. J Inherit Metab Dis 1997 Jun;20:152–158.
4. Katsuno M, Tanaka F, Adachi H, et al. Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA). Prog Neurobiol 2012;99:246–256.
5. Hashizume A, Katsuno M, Banno H, et al. Difference in chronological changes of outcome measures between untreated and placebo-treated patients of spinal and bulbar muscular atrophy. J Neurol 2012;259:712–719.
6. La Spada AR, Wilson EM, Lubahn DB, et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77–79.
7. Katsuno M, Adachi H, Kume A, et al. Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 2002;35:843–854.
8. Katsuno M, Banno H, Suzuki K, et al. Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 2010;9:875–884.
9. Soraru G, D'Ascenzo C, Polo A, et al. Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 2008;264:100–105.
10. Yu Z, Dadgar N, Albertelli M, et al. Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J Clin Invest 2006;116:2663–2672.
11. Hashizume A, Katsuno M, Banno H, et al. Longitudinal changes of outcome measures in spinal and bulbar muscular atrophy. Brain 2012;135(Pt 9):2838–2848.
12. Wyss M, Kaddurah-Daouk R. Creatine and creatinine metabolism. Physiol Rev 2000;80:1107–1213.
13. Swaminathan R, Ho CS, Chu LM, Donnan S. Relation between plasma creatinine and body size. Clin Chem 1986;32:371–373.
14. Fliser D, Ritz E. Serum cystatin C concentration as a marker of renal dysfunction in the elderly. Am J Kidney Dis 2001;37:79–83.
15. Tetsuka S, Morita M, Ikeguchi K, Nakano I. Creatinine/cystatin C ratio as a surrogate marker of residual muscle mass in amyotrophic lateral sclerosis. Neurol Clin Neurosci 2013;1:32–37.
16. Banno H, Katsuno M, Suzuki K, et al. Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy. Ann Neurol 2009;65:140–150.
17. Hashizume A, Katsuno M, Suzuki K, et al. A functional scale for spinal and bulbar muscular atrophy: cross-sectional and longitudinal study. Neuromuscul Disord 2015;25:554–562.
18. Besinger UA, Toyka KV, Homberg M, et al. Myasthenia gravis: long-term correlation of binding and bungarotoxin blocking antibodies against acetylcholine receptors with changes in disease severity. Neurology 1983;33:1316–1321.
19. Haarbo J, Gotfredsen A, Hassager C, Christiansen C. Validation of body composition by dual energy X-ray absorptiometry (DEXA). Clin Physiol 1991;11:331–341.
20. Heymsfield SB, Smith R, Aulet M, et al. Appendicular skeletal muscle mass: measurement by dual-photon absorptiometry. Am J Clin Nutr 1990;52:214–218.
21. Kim J, Wang Z, Heymsfield SB, et al. Total-body skeletal muscle mass: estimation by a new dual-energy X-ray absorptiometry method. Am J Clin Nutr 2002;76:378–383.
22. Shih R, Wang Z, Heo M, et al. Lower limb skeletal muscle mass: development of dual-energy X-ray absorptiometry prediction model. J Appl Physiol 2000;89:1380–1386.
23. Zhao X, Wang Z, Zhang J, et al. Estimation of total body skeletal muscle mass in Chinese adults: prediction model by dual-energy X-ray absorptiometry. PLoS One 2013;8:e53561.
24. Araki A, Katsuno M, Suzuki K, et al. Brugada syndrome in spinal and bulbar muscular atrophy. Neurology 2014;82:1813–1821.
25. Iida M, Katsuno M, Nakatsuji H, et al. Pioglitazone suppresses neuronal and muscular degeneration caused by polyglutamine-expanded androgen receptors. Hum Mol Genet 2015;24:314–329.
26. Doyu M, Sobue G, Mukai E, et al. Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene. Ann Neurol 1992;32:707–710.
27. Atsuta N, Watanabe H, Ito M, et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 2006;129(Pt 6):1446–1455.
28. Mano T, Katsuno M, Banno H, et al. Tongue pressure as a novel biomarker of spinal and bulbar muscular atrophy. Neurology 2014;82:255–262.
29. Patel SS, Molnar MZ, Tayek JA, et al. Serum creatinine as a marker of muscle mass in chronic kidney disease: results of a cross-sectional study and review of literature. J Cachexia Sarcopenia Muscle 2013;4:19–29.
30. Baxmann AC, Ahmed MS, Marques NC, et al. Influence of muscle mass and physical activity on serum and urinary creatinine and serum cystatin C. Clin J Am Soc Nephrol 2008;3:348–354.
31. Chiò A, Calvo A, Bovio G, et al. Amyotrophic lateral sclerosis outcome measures and the role of albumin and creatinine: a population-based study. JAMA Neurol 2014;71:1134–1142.
32. Butler R, Bates GP. Histone deacetylase inhibitors as therapeutics for polyglutamine disorders. Nat Rev Neurosci 2006;7:784–796.
33. Mohan RD, Abmayr SM, Workman JL. The expanding role for chromatin and transcription in polyglutamine disease. Curr Opin Genet Dev 2014;26:96–104.
34. Chandra A, Johri A, Beal MF. Prospects for neuroprotective therapies in prodromal Huntington's disease. Mov Disord 2014;29:285–293.
35. Lamb G. Excitation–contraction coupling in skeletal muscle: comparisons with cardiac muscle. Clin Exp Pharmacol Physiol 2000;27:216–224.
36. Walsh B, Tonkonogi M, Söderlund K, et al. The role of phosphorylcreatine and creatine in the regulation of mitochondrial respiration in human skeletal muscle. J Physiol 2001;537:971–978.
37. Tarnopolsky MA, Parshad A, Walzel B, et al. Creatine transporter and mitochondrial creatine kinase protein content in myopathies. Muscle Nerve 2001;24:682–688.
38. Banerjee B, Sharma U, Balasubramanian K, et al. Effect of creatine monohydrate in improving cellular energetics and muscle strength in ambulatory Duchenne muscular dystrophy patients: a randomized, placebo-controlled 31P MRS study. Magn Reson Imaging 2010;28:698–707.
39. Park JH, Olsen NJ, King L Jr, et al. Use of magnetic resonance imaging and P-31 magnetic resonance spectroscopy to detect and quantify muscle dysfunction in the amyopathic and myopathic variants of dermatomyositis. Arthritis Rheum 1995;38:68–77.
40. Kley RA, Vorgerd M, Tarnopolsky MA. Creatine for treating muscle disorders. Cochrane Libr 2007; CD004760.