The implications of TDP-43 mutations in pathogenesis of amyotrophic lateral sclerosis

Brain and Nerve

Volumn 61, Issue 11, 2009, Pages 1301-1307

  Ishihara, Tomohiko ^a   Yokoseki, Akio ^a   Nishizawa, Masatoyo ^a   Takahashi, Hitoshi ^a   Onodera, Osamu ^a  

^a NIIGATA UNIVERSITY   (Japan)

Author keywords

Amyotrophic lateral sclerosis (ALS) 10; hnRNP; Missense mutation; TAR DNA binding protein 43 kDa (TDP 43)

Indexed keywords

RIBONUCLEOPROTEIN; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CARBOXY TERMINAL SEQUENCE; CYTOTOXICITY; DEGENERATIVE DISEASE; GENE MUTATION; HUMAN; NEUROFILAMENT;

AMYOTROPHIC LATERAL SCLEROSIS; DNA-BINDING PROTEINS; HUMANS; MUTATION;

EID: 72049116588     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (39)

1. Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, et al: TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 351: 602-611, 2006 (Pubitemid 44708852)
2. ) Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, et al: Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314: 130-133, 2006 (Pubitemid 44547757)
3. Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, et al: TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 63: 538-542, 2008 (Pubitemid 351614721)
4. Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, et al: TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 63: 535-538, 2008 (Pubitemid 351614720)
5. ) Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, et al: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40: 572-574, 2008 (Pubitemid 351601218)
6. Kühnlein P, Sperfeld AD, Vanmassenhove B, Van Deerlin V, Lee VM, et al: Two German kindreds with familial amyotrophic lateral sclerosis due to TARD-BP mutations. Arch Neurol 65: 1185-1189, 2008
7. Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, et al: Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 4: e1000193, 2008
8. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, et al: TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319: 1668-1672, 2008
9. Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, et al: TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 7: 409-416, 2008
10. Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, et al: Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation. Neurobiol Aging 30: 1272-1275, 2009
11. Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, et al: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat 30: 688-694, 2009
12. Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupré N, et al: Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J Med Genet 46: 112-114, 2009
13. Del Bo R, Ghezzi S, Corti S, Pandolfo M, Ranieri M, et al: TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol 16: 727-732, 2009
14. Kamada M, Maruyama H, Tanaka E, Morino H, Wate R, et al: Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. J Neurol Sci 284: 69-71, 2009
15. Lemmens R, Race V, Hersmus N, Matthijs G, Van Den Bosch L, et al: TDP-43 M311V mutation in familial amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 80: 354-355, 2009
16. Ou SH, Wu F, Harrich D, García-Martínez LF, Gaynor RB: Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. J Virol 69: 3584-3596, 1995
17. Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, et al: TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 280: 37572-37584, 2005 (Pubitemid 41642366)
18. Buratti E, Dörk T, Zuccato E, Pagani F, Romano M, et al: Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 20: 1774-1784, 2001 (Pubitemid 32299413)
19. Abhyankar MM, Urekar C, Reddi PP: A novel CpG-free vertebrate insulator silences the testis-specific SP-10 gene in somatic tissues: role for TDP-43 in insulator function. J Biol Chem 282: 36143-36154, 2007
20. Bose JK, Wang IF, Hung L, Tarn WY, Shen CK: TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing. J Biol Chem 283: 28852-28859, 2008
21. Maquat LE: Nonsense-mediated mRNA decay in mammals. J Cell Sci 118: 1773-1776, 2005
22. Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, et al: Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol Aging 30: 1329-1331, 2007
23. D'Ambrogio A, Buratti E, Stuani C, Guarnaccia C, Romano M, et al: Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo. Nucleic Acids Res, 2009 (in print)
24. Nishihira Y, Tan CF, Onodera O, Toyoshima Y, Yamada M, et al: Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions. Acta Neuropathol 116: 169-182, 2008
25. Tan CF, Eguchi H, Tagawa A, Onodera O, Iwasaki T, et al: TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol 113: 535-542, 2007 (Pubitemid 46672599)
26. Tagawa A, Tan CF, Kikugawa K, Fukase M, Nakano R, et al: Familial amyotrophic lateral sclerosis: a SOD1-unrelated Japanese family of bulbar type with Bunina bodies and ubiquitin-positive skein-like inclusions in lower motor neurons. Acta Neuropathol 113: 205-211, 2007 (Pubitemid 46158153)
27. Pamphlett R, Luquin N, McLean C, Jew SK, Adams L: TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or without TDP-43 mutations. Neuropathol Appl Neurobiol 35: 222-225, 2009
28. Inukai Y, Nonaka T, Arai T, Yoshida M, Hashizume Y, et al: Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS. FEBS Lett 582: 2899-2904, 2008
29. Hasegawa M, Arai T, Nonaka T, Kametani F, Yoshida M, et al: Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Ann Neurol 64: 60-70, 2008
30. Johnson BS, Snead D, Lee JJ, McCaffery JM, Shorter J, et al: TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. J Biol Chem 284: 20329-20339, 2009
31. Kim SH, Shi Y, Hanson KA, Williams LM, Sakasai R, et al: Potentiation of amyotrophic lateral sclerosis (ALS)-associated TDP-43 aggregation by the proteasome-targeting factor, ubiquilin 1. J Biol Chem 284: 8083-8092, 2009
32. Nonaka T, Kametani F, Arai T, Akiyama H, Hasegawa M: Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43. Hum Mol Genet 18: 3358-3364, 2009
33. Amador-Ortiz C, Lin WL, Ahmed Z, Personett D, Davies P, et al: TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease. Ann Neurol 61: 435-445, 2007 (Pubitemid 46878771)
34. Higashi S, Iseki E, Yamamoto R, Minegishi M, Hino H, et al: Concurrence of TDP-43, tau and alpha-synuclein pathology in brains of Alzheimer's disease and dementia with Lewy bodies. Brain Res 1184: 284-294, 2007 (Pubitemid 350160566)
35. Cairns NJ, Neumann M, Bigio EH, Holm IE, Troost D, et al: TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions. Am J Pathol 171: 227-240, 2007 (Pubitemid 47342406)
36. Cook C, Zhang YJ, Xu YF, Dickson DW, Petrucelli L: TDP-43 in neurodegenerative disorders. Expert Opin Biol Ther 8: 969-978, 2008
37. Wider C, Wszolek ZK: Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome) - a literature review. Parkinsonism Relat Disord 14: 1-7, 2008
38. Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, et al: Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 61: 427-434, 2007 (Pubitemid 46878770)
39. Tsuchiya K, Shintani S, Nakabayashi H, Kikugawa K, Nakano R, et al: Familial amyotrophic lateral sclerosis with onset in bulbar sign, benign clinical course, and Bunina bodies: a clinical, genetic, and pathological study of a Japanese family. Acta Neuropathol 100: 603-607, 2000