Mouse Models of Spinocerebellar Ataxia Type 3 (Machado-Joseph Disease)

Neurotherapeutics

Volumn 9, Issue 2, 2012, Pages 285-296

  Gould, Veronica F Colomer ^a  

^a DEPARTAMENTO DE FÍSICA   (Mexico)

Author keywords

Machado Joseph; Mjd; Mouse; Sca3; Spinocerebellar ataxia type 3; Transgenic

Indexed keywords

ATAXIN 3; CALBINDIN; HEMAGGLUTININ; NEURON SPECIFIC NUCLEAR PROTEIN; TYROSINE 3 MONOOXYGENASE;

ANIMAL MODEL; ASTROCYTE; ATAXIA; BALANCE IMPAIRMENT; BODY POSTURE; BODY WEIGHT; BRADYKINESIA; CELL NUCLEUS INCLUSION BODY; CEREBELLUM; CEREBELLUM CORTEX; CEREBELLUM NUCLEUS; COORDINATION DISORDER; DEATH; FRONTAL CORTEX; GAIT DISORDER; GLIA CELL; HIPPOCAMPUS; LOCOMOTION; MACHADO JOSEPH DISEASE; NERVE DEGENERATION; NEUROPATHOLOGY; NONHUMAN; PONS; PRIORITY JOURNAL; PURKINJE CELL; REVIEW; SUBSTANTIA NIGRA; THALAMUS; VESTIBULAR NUCLEUS; WEIGHT REDUCTION;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; DISEASE MODELS, ANIMAL; HUMANS; MACHADO-JOSEPH DISEASE; MICE;

EID: 84859729640     PISSN: 19337213     EISSN: 18787479     Source Type: Journal    
DOI: 10.1007/s13311-012-0117-x     Document Type: Review

References (53)

1. Nakano KK, Dawson DM, Spence A. Machado disease. A hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 1972; 22: 49-55.
2. Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. J Neurol Sci 1972; 17: 149-166.
3. Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 1976; 26: 703-714.
4. Romanul FC, Fowler HL, Radvany J, Feldman RG, Feingold M. Azorean disease of the nervous system. N Engl J Med 1977; 296: 1505-1508.
5. Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology 1978; 28: 703-709.
6. Rosenberg RN, Nyhan WL, Coutinho P, Bay C. Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands. Adv Neurol 1978; 21: 33-57.
7. Healton EB, Brust JC, Kerr DL, Resor S, Penn A. Presumably Azorean disease in a presumably non-Portuguese family. Neurology 1980; 30: 1084-1089.
8. Lima L, Coutinho P. Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorena Portuguese family. Neurology 1980; 30: 319-322.
9. Barbeau A, Roy M, Cunha L, et al. The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases. Can J Neurol Sci 1984; 11: 510-525.
10. Fowler HL. Machado-Joseph-Azorean disease. A ten-year study. Arch Neurol 1984; 41: 921-925.
11. Stevanin G, Le Guern E, Ravise N, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24. 3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994; 54: 11-20.
12. Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995; 38: 68-72.
13. Bettencourt C, Lima M. Machado-Joseph Disease: from first descriptions to new perspectives. Orphanet J Rare Dis 2011; 6: 35.
14. Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32. 1. Nat Genet 1994; 8: 221-228.
15. Durr A, Stevanin G, Cancel G, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996; 39: 490-499.
16. Padiath QS, Srivastava AK, Roy S, Jain S, Brahmachari SK. Identification of a novel 45 repeat unstable allele associated with a disease phenotype at the MJD1/SCA3 locus. Am J Med Genet B Neuropsychiatr Genet 2005; 133B: 124-126.
17. Schmidt T, Landwehrmeyer GB, Schmitt I, et al. An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients. Brain Pathol 1998; 8: 669-679.
18. Goto J, Watanabe M, Ichikawa Y, et al. Machado-Joseph disease gene products carrying different carboxyl termini. Neurosci Res 1997; 28: 373-377.
19. Nishiyama K, Murayama S, Goto J, et al. Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals. Ann Neurol 1996; 40: 776-781.
20. Ross CA. When more is less: pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 1995; 15: 493-496.
21. La Spada AR, Taylor JP. Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet 2010; 11: 247-258.
22. Riess O, Rub U, Pastore A, Bauer P, Schols L. SCA3: neurological features, pathogenesis and animal models. Cerebellum 2008; 7: 125-137.
23. Rub U, Brunt ER, Deller T. New insights into the pathoanatomy of spinocerebellar ataxia type 3 (Machado-Joseph disease). Curr Opin Neurol 2008; 21: 111-116.
24. Alves S, Regulier E, Nascimento-Ferreira I, et al. Striatal and nigral pathology in a lentiviral rat model of Machado-Joseph disease. Hum Mol Genet 2008; 17: 2071-2083.
25. Munoz E, Rey MJ, Mila M, et al. Intranuclear inclusions, neuronal loss and CAG mosaicism in two patients with Machado-Joseph disease. J Neurol Sci 2002; 200: 19-25.
26. Paulson HL, Perez MK, Trottier Y, et al. Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 1997; 19: 333-344.
27. Yamada M, Hayashi S, Tsuji S, Takahashi H. Involvement of the cerebral cortex and autonomic ganglia in Machado-Joseph disease. Acta Neuropathol (Berl) 2001; 101: 140-144.
28. Ikeda H, Yamaguchi M, Sugai S, et al. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996; 13: 196-202.
29. Torashima T, Koyama C, Iizuka A, et al. Lentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia. EMBO Rep 2008; 9: 393-399.
30. Hubener J, Vauti F, Funke C, et al. N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation. Brain 2011; 134: 1925-1942.
31. Yamada M, Sato T, Tsuji S, Takahashi H. CAG repeat disorder models and human neuropathology: similarities and differences. Acta Neuropathol 2008; 115: 71-86.
32. Cemal CK, Carroll CJ, Lawrence L, et al. YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit. Hum Mol Genet 2002; 11: 1075-1094.
33. Goti D, Katzen SM, Mez J, et al. A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration. J Neurosci 2004; 24: 10266-10279.
34. Bichelmeier U, Schmidt T, Hubener J, et al. Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J Neurosci 2007; 27: 7418-7428.
35. Chou AH, Yeh TH, Ouyang P, et al. Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation. Neurobiol Dis 2008; 31: 89-101.
36. Boy J, Schmidt T, Wolburg H, et al. Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3. Hum Mol Genet 2009; 18: 4282-4295.
37. Boy J, Schmidt T, Schumann U, et al. A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeats. Neurobiol Dis 2010; 37: 284-293.
38. Silva-Fernandes A, Costa MdC, Duarte-Silva S, et al. Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products. Neurobiol Dis 2010; 40: 163-176.
39. Scott MR, Kohler R, Foster D, Prusiner SB. Chimeric prion protein expression in cultured cells and transgenic mice. Protein Sci 1992; 1: 986-997.
40. Chen X, Tang TS, Tu H, et al. Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3. J Neurosci 2008; 28: 12713-12724.
41. Colomer Gould VF, Goti D, Pearce D, et al. A mutant ataxin-3 fragment results from processing at a site N-terminal to amino acid 190 in brain of Machado-Joseph disease-like transgenic mice. Neurobiol Dis 2007; 27: 362-369.
42. Colomer Gould VF, Goti D, Kiluk J. A neuroendocrine dysfunction, not testicular mutant ataxin-3 cleavage fragment or aggregate, causes cell death in testes of transgenic mice. Cell Death Differ 2006; 13: 524-526.
43. Jung J, Xu K, Lessing D, Bonini NM. Preventing Ataxin-3 protein cleavage mitigates degeneration in a Drosophila model of SCA3. Hum Mol Genet 2009; 18: 4843-4852.
44. Williams AJ, Knutson TM, Colomer Gould VF, et al. In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis. Neurobiol Dis 2009; 33: 342-353.
45. Burnett B, Li F, Pittman RN. The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity. Hum Mol Genet 2003; 12: 3195-3205.
46. Warrick JM, Morabito LM, Bilen J, et al. Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism. Mol Cell 2005; 18: 37-48.
47. Burnett BG, Pittman RN. The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation. Proc Natl Acad Sci U S A 2005; 102: 4330-4335.
48. Nascimento-Ferreira I, Santos-Ferreira T, Sousa-Ferreira L, et al. Overexpression of the autophagic beclin-1 protein clears mutant ataxin-3 and alleviates Machado-Joseph disease. Brain 2011; 134: 1400-1415.
49. Griffin JL, Cemal CK, Pook MA. Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3. Physiol Genomics 2004; 16: 334-340.
50. Bezprozvanny I. Role of inositol 1, 4, 5-trisphosphate receptors in pathogenesis of Huntington's disease and spinocerebellar ataxias. Neurochem Res 2011; 36: 1186-1197.
51. Durcan TM, Kontogiannea M, Thorarinsdottir T, et al. The Machado-Joseph disease-associated mutant form of ataxin-3 regulates parkin ubiquitination and stability. Hum Mol Genet 2011; 20: 141-154.
52. Chou AH, Chen SY, Yeh TH, Weng YH, Wang HL. HDAC inhibitor sodium butyrate reverses transcriptional downregulation and ameliorates ataxic symptoms in a transgenic mouse model of SCA3. Neurobiol Dis 2011; 41: 481-488.
53. Kretzschmar D, Tschape J, Bettencourt Da Cruz A, et al. Glial and neuronal expression of polyglutamine proteins induce behavioral changes and aggregate formation in Drosophila. Glia 2005; 49: 59-72.