Recovery of function in a myogenic mouse model of spinal bulbar muscular atrophy

Neurobiology of Disease

Volumn 34, Issue 1, 2009, Pages 113-120

  Johansen, Jamie A ^a   Yu, Zhigang ^b   Mo, Kaiguo ^c   Monks, D Ashley ^c   Lieberman, Andrew P ^b   Breedlove, S Marc ^a   Jordan, Cynthia L ^a  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

Androgens; Denervation; Kennedy's Disease; Motor neuron; Muscle; Polyglutamine; Transgenic

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; AR GENE; ARTICLE; CONTROLLED STUDY; CONVALESCENCE; FEMALE; GENE; GENE EXPRESSION; MOTONEURON; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKELETAL MUSCLE; SPINAL BULBAR MUSCULAR ATROPHY; SPINAL MUSCULAR ATROPHY;

ANALYSIS OF VARIANCE; ANDROGENS; ANIMALS; BULBO-SPINAL ATROPHY, X-LINKED; DISEASE MODELS, ANIMAL; FEMALE; GENE EXPRESSION; MALE; MICE; MICE, TRANSGENIC; MOTOR ACTIVITY; MOTOR NEURONS; MUSCLE, SKELETAL; RECEPTORS, ANDROGEN; RECOVERY OF FUNCTION; TESTOSTERONE;

EID: 62149127399     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nbd.2008.12.009     Document Type: Article

References (27)

1. Bingham P.M., Scott M.O., Wang S., McPhaul M.J., Wilson E.M., Garbern J.Y., Merry D.E., and Fischbeck K.H. Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nat. Genet. 9 (1995) 191-196
2. Chevalier-Larsen E.S., O'Brien C.J., Wang H., Jenkins S.C., Holder L., Lieberman A.P., and Merry D.E. Castration restores function and neurofilament alterations of aged symptomatic males in a transgenic mouse model of spinal and bulbar muscular atrophy. J. Neurosci. 24 (2004) 4778-4786
3. Duclert A., Piette J., and Changeux J.P. Influence of innervation of myogenic factors and acetylcholine receptor alpha-subunit mRNAs. NeuroReport 2 (1991) 25-28
4. Fernandez-Funez P., Nino-Rosales M.L., de Gouyon B., She W.C., Luchak J.M., Martinez P., Turiegano E., Benito J., Capovilla M., Skinner P.J., McCall A., Canal I., Orr H.T., Zoghbi H.Y., and Botas J. Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 408 (2000) 101-106
5. Grierson A.J., Shaw C.E., and Miller C.C. Androgen induced cell death in SHSY5Y neuroblastoma cells expressing wild-type and spinal bulbar muscular atrophy mutant androgen receptors. Biochim. Biophys. Acta 1536 (2001) 13-20
6. Jaarsma D., Haasdijk E.D., Grashorn J.A.C., Hawkins R., van Duijn W., Verspaget H.W., London J., and Holstege J.C. Human Cu/Zn superoxide dismutase (SOD1) overexpression in mice causes mitochondrial vacuolization, axonal degeneration, and premature motoneuron death and accelerates motoneuron disease in mice expressing a familial amyotrophic lateral sclerosis mutant SOD1. Neurobiol. Dis. 7 (2000) 623-643
7. Jordan C.L., and Lieberman A.P. Spinal and bulbar muscular atrophy: a motoneuron or muscle disease?. Curr. Opin. Pharmacol. 8 (2008) 752-758
8. Katsuno M., Adachi H., Kume A., Li M., Nakagomi Y., Niwa H., Sang C., Kobayashi Y., Doyu M., and Sobue G. Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy. Neuron 35 (2002) 843-854
9. Kemp M.Q., Johansen J.A., Breedlove S.M., Lieberman A.P., and Jordan C. Deficits in retrograde transport in male knock-in and myogenic mouse models of spinal bulbar muscular atrophy. Neuroscience Meeting Planner (2008) Washington DC: Society for Neuroscience (444.24/W5). Online
10. Klocke R., Steinmeyer K., Jentsch T.J., and Jockusch H. Role of innervation, excitability, and myogenic factors in the expression of the muscular chloride channel ClC-1. A study on normal and myotonic muscle. J. Biol. Chem. 269 (1994) 27635-27639
11. Kostrominova T.Y., Dow D.E., Dennis R.G., Miller R.A., and Faulkner J.A. Comparison of gene expression of 2-mo denervated, 2-mo stimulated-denervated, and control rat skeletal muscles. Physiol. Genomics 22 (2005) 227-243
12. La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., and Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 (1991) 77-79
13. Mariotti C., Castellotti B., Pareyson D., Testa D., Eoli M., Antozzi C., Silani V., Marconi R., Tezzon F., Siciliano G., Marchini C., Gellera C., and Donato S.D. Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscul. Disord. 10 (2000) 391-397
14. McManamny P., Chy H.S., Finkelstein D.I., Craythorn R.G., Crack P.J., Kola I., Cheema S.S., Horne M.K., Wreford N.G., O'Bryan M.K., De Kretser D.M., and Morrison J.R. A mouse model of spinal and bulbar muscular atrophy. Hum. Mol. Genet. 11 (2002) 2103-2111
15. Merry D., McCampbell A., Taye A., Winston R.L., and Fischbeck K.H. Toward a mouse model for spinal and bulbar muscular atrophy: effect of neuronal expression of androgen receptor in transgenic mice. Am. J. Hum. Genet. 59 (1996) A271
16. Mills S.E. Histology for Pathologists. 3rd Edition (2007), Lippincott Williams & Wilkins, Philadelphia
17. Monks D.A., Johansen J.A., Mo K., Rao P., Eagleson B., Yu Z., Lieberman A.P., Breedlove S.M., and Jordan C.L. Overexpression of wild-type androgen receptor in muscle recapitulates polyglutamine disease. Proc. Natl. Acad. Sci. 104 (2007) 18259-18264
18. Sedehizade F., Klocke R., and Jockusch H. Expression of nerve-regulated genes in muscles of mouse mutants affected by spinal muscular atrophies and muscular dystrophies. Muscle Nerve 20 (1997) 186-194
19. Shi X., and Garry D.J. Muscle stem cells in development, regeneration, and disease. Genes Dev. 20 (2006) 1692-1708
20. Singleton A.B., et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 302 (2003) 841
21. Sopher B.L., Thomas Jr. P.S., LaFevre-Bernt M.A., Holm I.E., Wilke S.A., Ware C.B., Jin L.W., Libby R.T., Ellerby L.M., and La Spada A.R. Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration. Neuron 41 (2004) 687-699
22. Strand A.D., Aragaki A.K., Shaw D., Bird T., Holton J., Turner C., Tapscott S.J., Tabrizi S.J., Schapira A., Kooperberg C.L., and Olson J.M. Gene expression in Huntington's disease skeletal muscle: a potential biomarker. Hum. Mol. Genet. 14 (2005) 1863-1876
23. Tsuda H., Jafar-Nejad H., Patel A.J., Sun Y., Chen H.K., Rose M.F., Venken K.J., Botas J., Orr H.T., Bellen H.J., and Zoghbi H.Y. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell 122 (2005) 633-644
24. Walcott J.L., and Merry D.E. Ligand promotes intranuclear inclusions in a novel cell model of spinal and bulbar muscular atrophy. J. Biol. Chem. 277 (2002) 50855-50859
25. Wittmann C.W., Wszolek M.F., Shulman J.M., Salvaterra P.M., Lewis J., Hutton M., and Feany M.B. Tauopathy in Drosophila: neurodegeneration without neurofibrillary tangles. Science 293 (2001) 711-714
26. Yu Z., Dadgar N., Albertelli M., Gruis K., Jordan C., Robins D.M., and Lieberman A.P. Androgen-dependent pathology demonstrates myopathic contribution to the Kennedy disease phenotype in a mouse knock-in model. J. Clin. Invest. 116 (2006) 2663-2672
27. Zoghbi H.Y., and Orr H.T. Glutamine repeats and neurodegeneration. Annu. Rev. Neurosci. 23 (2000) 217-247