Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy

Neurobiology of Disease

Volumn 45, Issue 1, 2012, Pages 539-546

  Mankodi, Ami ^a,b   Wheeler, Thurman M ^a   Shetty, Reena ^a   Salceies, Kelly M ^c   Becher, Mark W ^c   Thornton, Charles A ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

Author keywords

Cardiomyopathy; Myopathy; Nuclear inclusion; Oculopharyngeal muscular dystrophy; PABPN1; Protein aggregation; Transgenic mouse model

Indexed keywords

MESSENGER RNA; MIFEPRISTONE; POLYADENYLIC ACID BINDING PROTEIN; POLYADENYLIC ACID BINDING PROTEIN 1; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CARDIOMYOPATHY; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; ENZYME REGULATION; GENE EXPRESSION SYSTEM; GENE SEQUENCE; HISTOLOGY; HUMAN; IN VIVO STUDY; MOUSE; MYOPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SKELETAL MYOPATHY;

ALLELES; ANIMALS; CELL NUCLEUS; DISEASE MODELS, ANIMAL; DISEASE PROGRESSION; MICE; MICE, TRANSGENIC; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; POLY A;

EID: 81955167496     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.09.010     Document Type: Article

References (29)

1. Abu-Baker A., et al. Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy. Hum. Mol. Genet. 2003, 12:2609-2623.
2. Bao Y.P., et al. Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy. J. Med. Genet. 2004, 41:47-51.
3. Becher M.W., et al. Intranuclear inclusions in oculopharyngeal muscular dystrophy contain poly(A) binding protein 2. Ann. Neurol. 2000, 48:812-815.
4. Blumen S.C., et al. Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes. Neurology 2009, 73:596-601.
5. Brais B. Oculopharyngeal muscular dystrophy: a polyalanine myopathy. Curr. Neurol. Neurosci. Rep. 2009, 9:76-82.
6. Brais B., et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat. Genet. 1998, 18:164-167.
7. Calado A., et al. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum. Mol. Genet. 2000, 9:2321-2328.
8. Davies J.E., et al. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat. Med. 2005, 11:672-677.
9. Davies J.E., et al. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum. Mol. Genet. 2006, 15:23-31.
10. Dion P., et al. Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice. Neurobiol. Dis. 2005, 18:528-536.
11. Fan X., et al. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. Hum. Mol. Genet. 2001, 10:2341-2351.
12. Hino H., et al. Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy. Hum. Mol. Genet. 2004, 13:181-190.
13. Mankodi A., et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000, 289:1769-1773.
14. Messaed C., et al. Soluble expanded PABPN1 promotes cell death in oculopharyngeal muscular dystrophy. Neurobiol. Dis. 2007, 26:546-557.
15. Niwa H., et al. Efficient selection for high-expression transfectants with a novel eukaryotic vector. Gene 1991, 108:193-199.
16. Pattison J.S., et al. Cardiomyocyte expression of a polyglutamine preamyloid oligomer causes heart failure. Circulation 2008, 117:2743-2751.
17. Pierson T.M., et al. Regulable expression of inhibin A in wild-type and inhibin alpha null mice. Mol. Endocrinol. 2000, 14:1075-1085.
18. Sagawa F., et al. Nucleophosmin deposition during mRNA 3' end processing influences poly(A) tail length. EMBO J. Aug 5, 2011, 272. (E pub ahead of print).
19. Scherzinger E., et al. Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 1997, 90:549-558.
20. Schmidt E.V., et al. The cytomegalovirus enhancer: a pan-active control element in transgenic mice. Mol. Cell. Biol. 1990, 10:4406-4411.
21. Tome F.M., Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol. 1980, 49:85-87.
22. Uversky V.N. Mysterious oligomerization of the amyloidogenic proteins. FEBS J. 2010, 277:2940-2953.
23. Uyama E., et al. Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy. Muscle Nerve 2000, 23:1549-1554.
24. Wang Y., et al. A regulatory system for use in gene transfer. Proc. Natl. Acad. Sci. U. S. A. 1994, 91:8180-8184.
25. Wang Y., et al. Ligand-inducible and liver-specific target gene expression in transgenic mice. Nat. Biotechnol. 1997, 15:239-243.
26. Wang X.J., et al. Development of gene-switch transgenic mice that inducibly express transforming growth factor beta1 in the epidermis. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:8483-8488.
27. Wanker E.E., et al. Membrane filter assay for detection of amyloid-like polyglutamine-containing protein aggregates. Methods Enzymol. 1999, 309:375-386.
28. Welle S., et al. High-abundance mRNAs in human muscle: comparison between young and old. J. Appl. Physiol. 2000, 89:297-304.
29. Zhao B., et al. Phenotypic consequences of lung-specific inducible expression of FGF-3. Proc. Natl. Acad. Sci. U. S. A. 2001, 98:5898-5903.