Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease

European Journal of Human Genetics

Volumn 16, Issue 4, 2008, Pages 462-470

  Bachetti, Tiziana ^a   Caroli, Francesco ^a   Bocca, Paola ^a   Prigione, Ignazia ^a   Balbi, Pietro ^b   Biancheri, Roberta ^a   Filocamo, Mirella ^a   Mariotti, Caterina ^c   Pareyson, Davide ^c   Ravazzolo, Roberto ^a,d   Ceccherini, Isabella ^a  

^a G GASLINI INSTITUTE   (Italy)

^b IRCCS   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; GLIAL FIBRILLARY ACIDIC PROTEIN; POTASSIUM; PROTEASOME; UBIQUITIN;

ADULT; ALEXANDER DISEASE; ARTICLE; CASE REPORT; CONCENTRATION RESPONSE; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILIAL DISEASE; FUNCTIONAL GENOMICS; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; ITALY; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN STRUCTURE; RECURRENT DISEASE; RISK FACTOR;

ADULT; AGE OF ONSET; ALEXANDER DISEASE; ALLELES; ALPHA-CRYSTALLIN B CHAIN; CELL LINE, TUMOR; CYTOSKELETON; FEMALE; GENE EXPRESSION; GENE EXPRESSION PROFILING; GLIAL FIBRILLARY ACIDIC PROTEIN; GREEN FLUORESCENT PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; UBIQUITIN; VIMENTIN;

EID: 41049095638     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201995     Document Type: Article

References (21)

1. Alexander WS: Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in hydrocephalic infant. Brain 1949; 72: 373-381.
2. Russo LS, Aron A, Anderson PJ: Alexander's disease: a report and reappraisal. Neurology 1976; 26: 607-614.
3. Head MW, Corbin E, Goldman JE: Overexpression and abnormal modification of the stress alpha B-crystallin and HSP27 in Alexander disease. Am J Pathol 1993; 143: 1743-1753.
4. Li R, Johnson AB, Salomons G et al: Glial fibrillary acidic protein mutations in infantile, juvenile and adult forms of Alexander disease. Ann Neurol 2005; 57: 310-325.
5. Brenner M, Johnson AB, Boespflug-Tangury O, Rodriguez D, Goldman J, Messing A, Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001; 27: 117-120.
6. Rodriguez D, Gauthier F, Bertini E et al: Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 2001; 69: 1134-1140.
7. Messing A, Head MW, Galles K, Galbreath EJ, Goldman JE, Brenner M: Fatal encephalopathy with astrocytes inclusions in GFAP transgenic mice. Am J Pathol 1998; 152: 391-398.
8. Koyama Y, Goldman J: Formation of GFAP cytoplasmic inclusions in astrocytes and their disaggregation by αB-crystallin. Am J Pathol 1999; 154: 1563-1572.
9. Eliasson C, Sahlgren C, Berthold CH et al: Intermediate filament protein partnership in astrocytes. J Biol Chem 1999; 34: 23996-24006.
10. Hsiao VC, Tian R, Long H et al: Alexander-disease mutation of GFAP causes filament disorganization and decreased solubility of GFAP. J Cell Sci 2005; 118: 2057-2065.
11. Tang G, Xu Z, Goldman JE: Synergistic effects of the SAPK/JNK & the proteasome pathways on GFAP accumulation in Alexander disease. J Biol Chem 2006; 281: 38634-38643.
12. Yoshida T, Tomozawa Y, Arisato T, Okamoto Y, Hirano H, Masanori N: The functional alteration of mutant GFAP depends on the location of the domain: Morphological and functional studies using astrocytoma-derived cells. J Hum Genet 2007; 52: 362-369.
13. Balbi P, Seri M, Ceccherini I et al: Adult-onset Alexander disease. Report on a family. J Neurol 2007; e-pub ahead of print 21 November 2007.
14. Bachetti T, Bocca P, Borghini S et al: Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. Int J Biochem Cell Biol 2007; 39: 327-339.
15. Sadamitsu C, Nagano T, Fukumaki Y, Iwaki A: Heat shock factor 2 is involved in the upregulation of αB-crystallin by high extracellular potassium. J Biochem 2001; 129: 813-820.
16. CheAg J, Randall AZ, Sweredoski MJ, Baldi P: SCRATCH: a protein structure and feature prediction server. Nucleic Acid Res 2005; 33: 73-76.
17. Perng MD, Su M Wen SF et al: 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 αB-crystallin and HSP27. Am J Hum Genet 2006; 79: 197-213.
18. Iwaki T, Iwaki A, Fukumaki Y, Tateishi J: αB-crystallin in C6 glioma cells supports their survival in elevated extracellular K+: Implication of the protective role of αB-crystallin accumulation in reactive glia. Brain Res 1995; 673: 47-52.
19. Romano S, Salvetti M, Ceccherini I, De Simone T, Savoiardo M: Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord. Lancet Neurol 2007; 6: 562-570.
20. Mignot C, Delarasse C, Escaich S et al: Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease. Exp Cell Res 2007; 313: 2766-2779.
21. Shiihara T, Sawaishi Y, Adachi M, Kato M, Hayasaka K: Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP. J Neurol Sci 2004; 225: 125-127.