Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model

BMC Neurology

Volumn 17, Issue 1, 2017, Pages

  Lee, So Hyun ^a,b   Nam, Tai Seung ^a   Kim, Kun Hee ^a   Kim, Jin Hee ^a   Yoon, Woong ^a   Heo, Suk Hee ^a   Kim, Min Jung ^c   Shin, Boo Ahn ^a   Perng, Ming Der ^d   Choy, Hyon E ^a   Jo, Jihoon ^a   Kim, Myeong Kyu ^a   Choi, Seok Yong ^a,b  

^a Chonnam National University Medical School   (South Korea)

^b Chonnam National University   (South Korea)

^c Sookmyung Women's University   (South Korea)

^d NATIONAL TSING HUA UNIVERSITY   (Taiwan)

Author keywords

Alexander disease; Astrocyte; GFAP; Glial fibrillary acidic protein; Leukodystrophy; Rosenthal fibers; Zebrafish

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

AGED; ALEXANDER DISEASE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATAXIA; BRAIN ATROPHY; BRAIN DAMAGE; CASE REPORT; CLINICAL ARTICLE; CONTROLLED STUDY; DYSARTHRIA; DYSPHAGIA; DYSPHONIA; EMBRYO; FALL RISK; GAIT DISORDER; GENE MUTATION; GFAP GENE; HUMAN; HUMAN CELL; HYPERTENSION; MALE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NONHUMAN; NYSTAGMUS; ONSET AGE; PROTEIN AGGREGATION; RADIOLOGICAL PROCEDURES; ZEBRA FISH; ANIMAL; ASTROCYTE; GENETICS; METABOLISM; MUTATION;

AGED; ALEXANDER DISEASE; ANIMALS; ASTROCYTES; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; MALE; MUTATION; ZEBRAFISH;

EID: 85028938611     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/s12883-017-0938-7     Document Type: Article

References (44)

1. Alexander Diesease [ http://www.ncbi.nlm.nih.gov/books/NBK1172/ ].
2. Heaven MR, Flint D, Randall SM, Sosunov AA, Wilson L, Barnes S, Goldman JE, Muddiman DC, Brenner M. Composition of Rosenthal fibers, the protein aggregate Hallmark of Alexander disease. J Proteome Res. 2016;15(7):2265-82.
3. Johnson AB, Brenner M. Alexander's disease: clinical, pathologic, and genetic features. J Child Neurol. 2003;18(9):625-32.
4. Quinlan RA, Brenner M, Goldman JE, Messing A. GFAP and its role in Alexander disease. Exp Cell Res. 2007;313(10):2077-87.
5. Sawaishi Y. Review of Alexander disease: beyond the classical concept of leukodystrophy. Brain and Development. 2009;31(7):493-8.
6. Alexander WSProgressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 1949, 72(3):373-381, 373 pl.
7. Rosenthal W. Über eine eigenthümliche, mit Syringomyelie complicirte Geschwulst des Rückenmarks. Bietr Pathol Anat. 1898;23:111-43.
8. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet. 2001;27(1):117-20.
9. Alexander disease [ http://www.waisman.wisc.edu/alexander-disease/ ].
10. Mignot C, Boespflug-Tanguy O, Gelot A, Dautigny A, Pham-Dinh D, Rodriguez D. Alexander disease: putative mechanisms of an astrocytic encephalopathy. Cell Mol Life Sci. 2004;61(3):369-85.
11. Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 2011;77(13):1287-94.
12. Balbi P, Seri M, Ceccherini I, Uggetti C, Casale R, Fundaro C, Caroli F, Santoro L. Adult-onset Alexander disease: report on a family. J Neurol. 2008;255(1):24-30.
13. Li R, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, et al. Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. Ann Neurol. 2005;57(3):310-26.
14. Schmidt S, Wattjes MP, Gerding WM, van der Knaap M. Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene. J Neurol. 2011;258(5):938-40.
15. Wippold FJ 2nd, Perry A, Lennerz J. Neuropathology for the neuroradiologist: Rosenthal fibers. AJNR Am J Neuroradiol. 2006;27(5):958-61.
16. Bachetti T, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, et al. Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. Eur J Hum Genet. 2008;16(4):462-70.
17. Boczek NJ, Sigafoos AN, Zimmermann MT, Maus RL, Cousin MA, Blackburn PR, Urrutia R, Clark KJ, Patterson MC, Wick MJ, et al. Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. Clin Case Rep. 2016;4(9):885-95.
18. Der Perng M, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, Quinlan RA. The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27. Am J Hum Genet. 2006;79(2):197-213.
19. Hsiao K, Chapman P, Nilsen S, Eckman C, Harigaya Y, Younkin S, Yang F, Cole G. Correlative memory deficits, Abeta elevation, and amyloid plaques in transgenic mice. Science. 1996;274(5284):99-102.
20. Nam TS, Kim JH, Chang CH, Yoon W, Jung YS, Kang SY, Shin BA, Perng MD, Choi SY, Kim MK. Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease. Eur J Hum Genet. 2015;23(1):72-8.
21. Grunwald DJ, Eisen JS. Headwaters of the zebrafish -- emergence of a new model vertebrate. Nat Rev Genet. 2002;3(9):717-24.
22. Ingham PW. The power of the zebrafish for disease analysis. Hum Mol Genet. 2009;18(R1):R107-12.
23. Kawai H, Arata N, Nakayasu H. Three-dimensional distribution of astrocytes in zebrafish spinal cord. Glia. 2001;36(3):406-13.
24. Nielsen AL, Jorgensen AL. Structural and functional characterization of the zebrafish gene for glial fibrillary acidic protein, GFAP. Gene. 2003;310:123-32.
25. Bernardos RL, Raymond PA. GFAP transgenic zebrafish. Gene Expr Patterns. 2006;6(8):1007-13.
26. Lim HS, Jin S, Yun SJ. Modulation of Melanogenesis by Heme oxygenase-1 via p53 in normal human melanocytes. Chonnam Med J. 2016;52(1):45-52.
27. Kim JH, Lee SR, Li LH, Park HJ, Park JH, Lee KY, Kim MK, Shin BA, Choi SY. High cleavage efficiency of a 2A peptide derived from porcine teschovirus-1 in human cell lines, zebrafish and mice. PLoS One. 2011;6(4):e18556.
28. Urasaki A, Morvan G, Kawakami K. Functional dissection of the Tol2 transposable element identified the minimal cis-sequence and a highly repetitive sequence in the subterminal region essential for transposition. Genetics. 2006;174(2):639-49.
29. Westerfield M: THE ZEBRAFISH BOOK: a guide for the laboratory use of zebrafish (Danio rerio), 5 edn: University of Oregon Press; 2007.
30. Kimmel CB, Ballard WW, Kimmel SR, Ullmann B, Schilling TF. Stages of embryonic development of the zebrafish. Developmental dynamics: an official publication of the American Association of Anatomists. 1995;203(3):253-310.
31. Delongchamp RR, Razzaghi M, Lee T. Estimating false discovery rate and false non-discovery rate using the empirical cumulative distribution function of p-values in 'omics' studies. Genes Genom. 2011;33(5):461-6.
32. Chang KE, Pratt D, Mishra BB, Edwards N, Hallett M, Ray-Chaudhury A. Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene. Clin Neuropathol. 2015;34(5):298-302.
33. Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, et al. Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain. 2008;131(Pt 9):2321-31.
34. Messing A, Head MW, Galles K, Galbreath EJ, Goldman JE, Brenner M. Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. Am J Pathol. 1998;152(2):391-8.
35. Tang G, Yue Z, Talloczy Z, Hagemann T, Cho W, Messing A, Sulzer DL, Goldman JE. Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways. Hum Mol Genet. 2008;17(11):1540-55.
36. Ebrahimi-Fakhari D, Wahlster L, Hoffmann GF, Kolker S. Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. Pediatr Res. 2014;75(1-2):217-26.
37. Faber PW, Alter JR, MacDonald ME, Hart AC. Polyglutamine-mediated dysfunction and apoptotic death of a Caenorhabditis Elegans sensory neuron. Proc Natl Acad Sci U S A. 1999;96(1):179-84.
38. Iijima K, Liu HP, Chiang AS, Hearn SA, Konsolaki M, Zhong Y. Dissecting the pathological effects of human Abeta40 and Abeta42 in drosophila: a potential model for Alzheimer's disease. Proc Natl Acad Sci U S A. 2004;101(17):6623-8.
39. Biswas P, Chavali VR, Agnello G, Stone E, Chakarova C, Duncan JL, Kannabiran C, Homsher M, Bhattacharya SS, Naeem MA, et al. A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration. Hum Mol Genet. 2016;
40. Gama Sosa MA, De Gasperi R, Elder GA. Modeling human neurodegenerative diseases in transgenic systems. Hum Genet. 2012;131(4):535-63.
41. Schiffer NW, Broadley SA, Hirschberger T, Tavan P, Kretzschmar HA, Giese A, Haass C, Hartl FU, Schmid B. Identification of anti-prion compounds as efficient inhibitors of polyglutamine protein aggregation in a zebrafish model. J Biol Chem. 2007;282(12):9195-203.
42. Chen YS, Lim SC, Chen MH, Quinlan RA, Perng MD. Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability. Exp Cell Res. 2011;317(16):2252-66.
43. Jany PL, Hagemann TL, Messing A. GFAP expression as an indicator of disease severity in mouse models of Alexander disease. ASN Neuro. 2013;5(1):e00109.
44. Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of genetic counselors. J Genet Couns. 2008;17(5):424-33.