Gene expression in Huntington's disease skeletal muscle: A potential biomarker

Human Molecular Genetics

Volumn 14, Issue 13, 2005, Pages 1863-1876

  Strand, Andrew D ^a   Aragaki, Aaron K ^a   Shaw, Dennis ^b   Bird, Thomas ^c   Holton, Janice ^d   Turner, Christopher ^e   Tapscott, Stephen J ^a   Tabrizi, Sarah J ^f   Schapira, Anthony H ^c,d   Kooperberg, Charles ^a   Olson, James M ^a  

^a Fred Hutchinson Cancer Research Center   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^f NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

6 PHOSPHOFRUCTOKINASE; ADENOSYLMETHIONINE DECARBOXYLASE; ADENOSYLMETHIONINE DECARBOXYLASE 1; ADENYLATE KINASE; ALPHA ACTININ; ALPHA ACTININ 2; ALPHA ACTININ 3; BIOCHEMICAL MARKER; CALSEQUESTRIN; CALSEQUESTRIN 1; COMPLEMENTARY DNA; CREATINE KINASE; FRUCTOSE BISPHOSPHATE ALDOLASE; FRUCTOSE BISPHOSPHATE ALDOLASE 1A; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; GLYCEROL 3 PHOSPHATE DEHYDROGENASE; LACTATE DEHYDROGENASE; LACTATE DEHYDROGENASE ISOENZYME 5; MYOSIN LIGHT CHAIN; PARVALBUMIN; PHOSPHOGLYCERATE MUTASE; RETINOID X RECEPTOR GAMMA; TRIOSEPHOSPHATE ISOMERASE; TRIOSEPHOSPHATE ISOMERASE 1; TROPONIN C; TROPONIN C2; TROPONIN I; TROPONIN T; TROPONIN T3; UNCLASSIFIED DRUG;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DIABETES MELLITUS; DIET RESTRICTION; DISEASE COURSE; FAST MUSCLE; FATALITY; FEMALE; GENE EXPRESSION PROFILING; GLUCOSE HOMEOSTASIS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HUNTINGTON CHOREA; MALE; METABOLIC DISORDER; MOLECULAR DYNAMICS; MOUSE; MUSCLE BIOPSY; NERVE DEGENERATION; NEUROPATHOLOGY; NONHUMAN; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SKELETAL MUSCLE; SLOW MUSCLE; VASTUS LATERALIS MUSCLE;

ANIMALS; BIOLOGICAL MARKERS; DISEASE MODELS, ANIMAL; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; HUMANS; HUNTINGTON DISEASE; MICE; MICE, KNOCKOUT; MUSCLE FIBERS, FAST-TWITCH; MUSCLE FIBERS, SLOW-TWITCH; MUSCLE, SKELETAL; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 25844526181     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi192     Document Type: Article

References (56)

1. Hayden, M.R. and Kremer, B. (2001) In Scriver, C., Beaudet, A., Sly, W. and Valle, D. (eds), The Metabolic and Molecular Basis of Inherited Disease. 8th edn. McGraw-Hill, New York, USA. pp. 5677-5701.
2. Ross, C.A. (2002) Polygutamine pathogenesis: Emergence of unifying mechanisms for Huntington's disease and related disorders. Neuron, 35, 819-822.
3. Mangiarini, L., Sathasivam, K., Seller, M., Cozens, B., Harper, A., Hetherington, C., Lawton, M., Trottier, Y., Lehrach, H., Davies, S.W. and Bates, G.P. (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell, 87, 493-506.
4. Menalled, L.B. and Chesselet, M.F. (2002) Mouse models of Huntington's disease. Trends Pharmacol. Sci., 23, 32-39.
5. Lin, C.H., Tallaksen-Greene, S., Chien, W.M., Cearley, J.A., Jackson, W.S., Crouse, A.B., Ren, S., Li, X.J., Albin, R.L. and Detloff, P.J. (2001) Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Mol. Genet., 10, 137-144.
6. Huntington Study Group (1996) The unified Huntington's disease rating scale: Reliability and consistency. Mov. Disord., 11, 136-142.
7. Marder, K., Zhao, H., Myers, R.H., Cudkowicz, M., Kayson, E., Kieburtz, K., Orme, C., Paulsen, J., Penney, J.B., Jr, Siemers, E. et al. (2000) Rate of functional decline in Huntington's disease. Huntington Study Group. Neurology, 54, 452-458.
8. Sathasivam, K., Hobbs, C., Turmaine, M., Mangiarini, L., Mahal, A., Bertaux, F., Wanker, E.E., Doherty, P., Davies, S.W. and Bates, G.P. (1999) Formation of polyglutamine inclusions in non-CNS tissue. Hum. Mol. Genet., 8, 813-822.
9. Ribchester, R.R., Thomson, D., Wood, N.I., Hinks, T., Gillingwater, T.H., Wishart, T.M., Court, F.A.. and Morton, A.J. (2004) Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington's disease mutation. Eur. J. Neurosci., 20, 3092-3114.
10. Luthi-Carter, R., Hanson, S.A., Strand, A.D., Bergstrom, D.A., Chun, W., Peters, N.L., Woods, A.M., Chan, E.Y.W., Kooperberg, C., Young, A.B. et al. (2002) Dysregulation of gene expression in the R6/2 model of polyglutamine disease: Parallel changes in muscle and brain. Hum. Mol. Genet., 11, 1911-1926.
11. Hockly, E., Woodman, B., Mahal, A., Lewis, C.M. and Bates, G., (2003) Standardization and statistical approaches to therapeutic trials in the R6/2 mouse. Brain Res. Bull. 61, 469-479.
12. Hurlbert, M.S., Zhou, W., Wasmeier, C., Kaddis, F.G., Hutton, J.C., and Freed, C.R. (1999) Mice transgenic for an expanded CAG repeat in the Huntington's disease gene develop diabetes. Diabetes, 48, 649-651.
13. Andreassen, O.A., Dedeoglu, A., Stanojevic, V., Hughes, D.B., Browne, S.E., Leech, C.A., Ferrante, R.J., Habener, J.F., Beal, M.F. and Thomas, M.K. (2002) Huntington's disease of the endocrine pancreas. Insulin deficiency and diabetes mellitus due to impaired insulin gene expression. Neurobiol. Dis., 11, 410-424.
14. Bjorkqvist, M., Fex, M., Renstrom, E., Wierup, N., Petersen, A., Gil, J., Bacos, K., Popovic, N., Li, J.Y., Sundler, F., Brandin, P. and Mulder, H. (2005) The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient (beta)-cell mass and exocytosis. Hum. Mol. Genet., 14, 565-574.
15. Sreekumar, R., Halvatsiotis, P., Schimke, J.C. and Nair, K.S. (2002) Gene expression profile of skeletal muscle of type 2 diabetes and the effect of insulin treatment. Diabetes, 51, 1913-1920.
16. Jagoe, R.T., Lecker, S.H., Gomes, M. and Goldberg, A.L. (2002) Patterns of gene expression in atrophying skeletal muscles: Response to food deprivation. FASEB J., 16, 1697-1712.
17. Lecker, S.H., Jagoe, R.T., Gilbert, A., Gomes, M., Baracos, V., Bailey, J., Price, S.R., Mitch, W.E. and Goldberg, A.L. (2004) Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression. FASEB J., 18, 39-51.
18. Smyth, G.K., (2004) Linear models and empirical Bayes methods for assessing differential expression in microarray experiments. Stat. Appl. Genet. Mol. Biol., 3, Article 1.
19. Dennis, G. Jr., Sherman, B.T., Hosack, D.A., Yang, J., Baseler, M.W., Lane, H.C. and Lempicki, R.A. (2003) DAVID: Database for annotation, visualization, and integrated discovery. Genome Biol., 4, P3. (http://apps1.niaid.nih.gov/david/upload.asp).
20. Fluck, M. and Hoppeler, H. (2003) Molecular basis of skeletal muscle plasticity-from gene to form and function. Rev. Physiol. Biochem. Pharmacol., 146, 159-216.
21. Berchtold, M.W., Brinkmeier, H. and Muntener, M. (2000) Calcium ion in skeletal muscle: Its crucial role for muscle function, plasticity, and disease. Physiol. Rev., 80, 1215-1265.
22. Van Hall, G. (2000) Lactate as a fuel for mitochondrial respiration. Acta Physiol. Scand., 168, 643-656.
23. Mills, M., Yang, N., Weinberger, R., Vander Woude, D.L., Beggs, A.H., Easteal, S. and North, K. (2001) Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Hum. Mol. Genet., 10, 1335-1346.
24. Campbell, W.G., Gordon, S.E., Carlson, C.J., Pattison, J.S., Hamilton, M.T. and Booth, F.W. (2001) Differential global gene expression in red and white skeletal muscle. Am. J. Physiol. Cell Physiol., 280 C763-C768.
25. Gentleman, R.C., Carey, V.J., Bates, D.M., Bolstad, B., Dettling, M., Dudoit, S., Ellis, B., Gautier, L., Ge, Y., Gentry, J. et al. (2004) Bioconductor: Open software development for computational biology and bioinformatics. Genome Biol., 5, R80.
26. Ihaka, R. and Gentleman, R., (1996) R: A language for data analysis and graphics. J. Comput. Graph. Stat., 5, 299-314.
27. Irizarry, R., Gautier, L. and Cope, L. (2003) An R package for oligonucleotide array statistical analysis. In Parmigiani, G., Garrett, E.S., Irizarry, R. and Zeger, S.L. (eds), The Analysis of Gene Expression Data: Methods and Software. Springer, New York, NY.
28. Cononver, W.J. (1980) Practical Nonparametric Statistics, 2nd edn. John Wiley and Sons, Inc., New York, NY.
29. Duan, W., Guo, Z., Jiang, H., Ware, M., Li, X.J. and Mattson, M.P. (2003) Dietary restriction normalizes glucose metabolism and BDNF levels, slows disease progression, and increases survival in huntingtin mutant mice. Proc. Natl Acad. Sci. USA, 100, 2911-2916.
30. Farrer, L.A. (1985) Diabetes mellitus in Huntington disease. Clin. Genet., 27, 62-77.
31. Djousse, L., Knowlton, B., Cupples, L.A., Marder, K., Shoulson, I. and Myers, R.H. (2002) Weight loss in early stage of Huntington's disease. Neurology 59, 1325-1330.
32. Morales, L.M., Estevez, J., Suarez, H., Villalobos, R., Chacin de Bonilla, L. and Bonilla, E. (1989) Nutritional evaluation of Huntington disease patients. Am. J. Clin. Nutr., 50, 145-150.
33. Myers, R.H., Sax, D.S., Koroshetz, W.J., Mastromauro, C., Cupples, L.A., Kiely, D.K., Pettengill, F.K. and Bird, E.D. (1991) Factors associated with slow progression in Huntington's disease. Arch. Neurol., 48, 800-804.
34. Sugars, K.L. and Rubinsztein, D.C. (2003) Transcriptional abnormalities in Huntington disease. Trends Genet., 19, 233-238.
35. Li, S.H. and Li, X.J. (2004) Huntingtin-protein interactions and the pathogenesis of Huntington's disease. Trends Genet., 20, 146-154.
36. Tapscott, S.J., Davis, R.L., Thayer, M.J., Cheng, P.E. Weintraub, H. and Lassar, A.B. (1988) MyoD1: A nuclear phosphoprotein requiring a Myc homology region to convert fibroblasts to myoblasts. Science, 242, 405-411.
37. Lin, J., Wu, P.H., Tarr, P.T., Lindenberg, K.S., St-Pierre, J., Zhang, C.Y., Mootha, V.K., Jager, S., Vianna, C.R., Reznick, R.M. et al. (2004) Defects in adaptive energy metabolism with CNS-linked hyperactivity in PGC-1alpha null mice. Cell, 119, 121-135.
38. Puigserver P. and Spiegelman, B.M. (2003) Peroxisome proliferator-activated receptor-gamma coactivator 1 alpha (PGC-1 alpha): transcriptional coactivator and metabolic regulator. Endocr. Rev., 24, 78-90.
39. Ohira, Y., Kawano, F., Roy, R.R., and Edgerton, V.R. (2003) Metabolic modulation of muscle fiber properties unrelated to mechanical stimuli. Jpn. J. Physiol., 53, 389-400.
40. Schapira, A.H. (1998) Mitochondrial dysfunction in neurodegenerative disorders. Biochem. Biophys. Acta, 1366, 225-233.
41. Browne, S.E. and Beal, M.F. (2004) The energetics of Huntington's disease. Neurochem. Res., 29, 531-546.
42. Brouillet, E., Conde, F., Beal, M.F. and Hantraye, P. (1999) Replicating Huntington's disease phenotype in experimental animals. Prog. Neurobiol., 59, 427-468.
43. Panov, A.V., Gutekunst, C.A., Leavitt, B.R., Hayden, M.R., Burke, J.R., Strittmatter, W.J. and Greenamyre, J.T. (2002) Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat. Neurosci., 5, 731-736.
44. Lodi, R., Schapira, A.H., Manners, D., Styles, P., Wood. N.W., Taylor, D.J. and Warner, T.T. (2000) Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy. Ann. Neurol., 48, 72-76.
45. Gu, M., Gash, M.T., Mann, V.M., Javoy-Agid, F., Cooper, J.M. and Schapira, A.H. (1996) Mitochondrial defect in Huntington's disease caudate nucleus. Ann. Neurol., 39, 385-389.
46. Tabrizi, S.J., Cleeter, M.W., Xuereb, J., Taanman, J.W., Cooper, J.M. and Schapira, A.H. (1999) Biochemical abnormalities and excitotoxicity in Huntington's disease brain. Ann. Neurol., 45, 25-32.
47. Andreassen, O.A., Dedeoglu, A., Ferrante, R.J., Jenkins, B.G., Ferrante, K.L., Thomas, M., Friedlich, A., Browne, S.E., Schilling, G., Borchelt, D.R. et al. (2001) Creatine increases survival and delays motor symptoms in a transgenic animal model of Huntington's disease. Neurobiol. Dis., 8, 479-491.
48. Ferrante, R.J., Andreassen, O.A., Dedeoglu, A., Ferrante, K.L., Jenkins, B.G., Hersch, S.M. and Beal, M.F. (2002) Therapeutic effects of coenzyme Q10 and remacemide in transgenic mouse models of Huntington's disease. J. Neurosci., 22, 1592-1599.
49. Schilling, G., Coonfield, M.L., Ross, C.A., and Borchelt, D.R. (2001) Coenzyme Q10 and remacemide hydrochloride ameliorate motor deficits in a Huntington's disease transgenic mouse model. Neurosci. Lett., 315, 149-153.
50. Buller, A.J., Eccles, J.C. and Eccles, R.M. (1960) Interactions between motoneurones and muscles in respect of the characteristic speeds of their responses. J. Physiol., 150, 417-439.
51. Eken, T. and Gundersen, K. (1988) Electrical stimulation resembling normal motor-unit activity: Effects on denervated fast and slow rat muscles. J. Physiol., 402, 651-669.
52. Windisch, A., Gundersen, K., Szabolcs, M.J., Gruber, H. and Lomo, T. (1998) Fast to slow transformation of denervated and electrically stimulated rat muscle. J. Physiol., 510, 623-632.
53. Buonanno, A. and Fields, R.D. (1999) Gene regulation by patterned electrical activity during neural and skeletal muscle development. Curr. Opin. Neurobiol., 9, 110-120.
54. Biomarkers Definitions Working Group. (2001) Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework. Clin. Pharmacol. Ther., 69, 89-95.
55. Laird, N.M. and Ware, J.H. (1982) Random-effects models for longitudinal data. Biometrics, 38, 963-974.
56. Livak, K.J. and Schmittgen, T.D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods, 25, 402-408.