A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis

Brain Pathology

Volumn 14, Issue 3, 2004, Pages 290-296

  Leung, Conrad L ^a   He, Cui Zhen ^a   Kaufmann, Petra ^a   Chin, Steven S ^a   Naini, Ali ^a   Liem, Ronald K H ^a   Mitsumoto, Hiroshi ^a   Hays, Arthur P ^a  

^a Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

INTERMEDIATE FILAMENT PROTEIN; NEUROFILAMENT PROTEIN; PERIPHERIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; GENE MUTATION; GENE OVEREXPRESSION; GENETIC TRANSFECTION; HOMOZYGOTE; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; MALE; MOTONEURON; NERVE CELL DEGENERATION; NUCLEOTIDE SEQUENCE; SITE DIRECTED MUTAGENESIS; TRANSGENIC MOUSE; WESTERN BLOTTING; WILD TYPE;

EID: 4143140690     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.2004.tb00066.x     Document Type: Article

References (32)

1. Ackerley S, Grierson AJ, Brownlees J, Thornhill P, Anderton BH, Leigh PN, Shaw CE, Miller CC (2000) Glutamate slows axonal transport of neurofilaments in transfected neurons. J Cell Biol 150:165-176.
2. Aletta JM, Angeletti R, Liem RK, Purcell C, Shelanski ML, Greene LA (1988) Relationship between the nerve growth factor-regulated clone 73 gene product and the 58-kilodalton neuronal intermediate filament protein (peripherin). J Neurochem 51:1317-1320.
3. Beaulieu JM, Nguyen MD, Julien JP (1999) Late onset death of motor neurons in mice overexpressing wild-type peripherin. J Cell Biol 147: 531-544.
4. Beaulieu JM, Robertson J, Julien JP (1999) Interactions between peripherin and neurofilaments in cultured cells: disruption of peripherin assembly by the NF-M and NF-H subunits. Biochem Cell Biol 77:41-45.
5. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A (2001) Mutations in GFAR encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 27:117-120.
6. Brownlees, J, Ackerley S, Grierson AJ, Jacobsen NJ, Shea K, Anderton BH, Leigh PN, Shaw CE, Miller CC (2002) Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum Mol Genet 11:2837-2844.
7. Cleveland DW, Rothstein JD (2001) From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosc 12:806-819.
8. Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB (2000) A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet 66:1426-1431.
9. Cui C, Stambrook PJ, Parysek LM (1995) Peripherin assembles into homopolymers in SW13 cells. J Cell Sci 108:3279-3284.
10. De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (2001) Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 49:245-249.
11. Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP (1994) Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 3:1757-1761.
12. Gaudette M, Hirano M, Siddique T (2000) Current status of SOD1 mutations in familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1:83-89.
13. Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH, Jr., Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29:166-173.
14. He CZ, Hays AP Expression of peripherin in ubiquinated inclusions of amyotrophic lateral sclerosis. J Neurol Sci 217:47-54.
15. Ho CL, Chien CL, Brown K, Liem RK (1998) Ultrastructural studies of carboxyl-terminal truncation mutants of the neuronal intermediate filament protein peripherin. J Neurochem 70: 1916-1924.
16. Ho, CL, Chin SS, Carnevale K, Liem RK (1995) Translation initiation and assembly of peripherin in cultured cells. Eur J Cell Biol 68:103-112.
17. Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M (2000) Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet 66:1432-1436.
18. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos S, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V (2003) Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126:590-597.
19. Julien JP (1999) Neurofilament functions in health and disease. Curr Opin Neurobiol 9:554-560.
20. Lariviere RC, Beaulieu JM, Nguyen MD, Julien JP (2003) Peripherin is not a contributing factor to motor neuron disease in a mouse model of amyotrophic lateral sclerosis caused by mutant superoxide dismutase. Neurobiol Dis 13:158-166.
21. Liem RKH, Leung CL Neuronal intermediate filament overexpression and neurodegeneration neurodegeneration in transgenic mice. Exp Neurology 184:3-8.
22. Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000) A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 67:37-46.
23. Munoz-Marmol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernandez-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E (1998) A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci U S A 95:11312-11317.
24. Otomo A, Hadano S, Okada T, Mizumura H, Kunita R, Nishijima H, Showguchi-Miyata J, Yanagisawa Y, Kohiki E, Suga E, Yasuda M, Osuga H, Nishimoto T, Narumiya S, Ikeda JE (2003) ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Hum Mol Genet 12:1671-1687.
25. Parysek LM, McReynolds MA, Goldman RD, Ley CA (1991) Some neural intermediate filaments contain both peripherin and the neurofilament proteins. J Neurosci Res 30:80-91.
26. Perez-Olle, R, Leung CL, Liem RK (2002) Effects of Charcot-Marie-Tooth- linked mutations of the neurofilament light subunit on intermediate filament formation. J Cell Sci 115:4937-4946.
27. Robertson J, Beaulieu JM, Doroudchi MM, Durham HD, Julien JP, Mushynski WE (2001) Apoptotic death of neurons exhibiting peripherin aggregates is mediated by the proinflammatory cytokine tumor necrosis factor-alpha. J Cell Biol 155:217-226.
28. Robertson J, Doroudchi MM, Nguyen MD, Durham HD, Strong MJ, Shaw G, Julien JP, Mushynski WE (2003) A neurotoxic peripherin splice variant in a mouse model of ALS. J Cell Biol 160: 939-949.
29. Smith F (2003) The molecular genetics of keratin disorders. Am J Clin Dermatol 4:347-364.
30. Troy CM, Muma NA, Greene LA, Price DL, Shelanski ML (1990) Regulation of peripherin and neurofilament expression in regenerating rat motor neurons. Brain Res 529:232-238.
31. Wong J, Oblinger MM (1990) Differential regulation of peripherin and neurofilament gene expression in regenerating rat DRG neurons. J Neurosci Res 27:332-341.
32. Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29:160-165.