Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

Neurobiology of Aging

Volumn 33, Issue 9, 2012, Pages 2229.e11-2229.e18

  Zou, Zhang Yu ^a   Peng, Yu ^b   Wang, Xin Ning ^a   Liu, Ming Sheng ^a   Li, Xiao Guang ^a   Cui, Li Ying ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b FIRST MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

Amyotrophic lateral sclerosis; G348V; Genetics; S292N; TARDBP

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; TAR DNA BINDING PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CAUCASIAN; CHINESE; CONTROLLED STUDY; EXON; FAMILIAL AMYTROPHIC LATERAL SCLEROSIS; FEMALE; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; RACE DIFFERENCE; SPORADIC AMYTROPHIC LATERAL SCLEROSIS; TAR DNA BINDING PROTEIN GENE;

EID: 84863500448     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2012.03.014     Document Type: Article

References (54)

1. Andersen P.M., Al-Chalabi A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know?. Nat. Rev. Neurol 2011, 7:603-615.
2. Baumer D., Parkinson N., Talbot K. TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation. J. Neurol. Neurosurg. Psychiatry 2009, 80:1283-1285.
3. Benajiba L., Le Ber I., Camuzat A., Lacoste M., Thomas-Anterion C., Couratier P., Legallic S., Salachas F., Hannequin D., Decousus M., Lacomblez L., Guedj E., Golfier V., Camu W., Dubois B., Campion D., Meininger V., Brice A. TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration. Ann. Neurol 2009, 65:470-473.
4. Brooks B.R., Miller R.G., Swash M., Munsat T.L. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Other Motor Neuron Disord 2000, 1:293-299. World Federation of Neurology Research Group on Motor Neuron Diseases.
5. Byrne S., Bede P., Elamin M., Kenna K., Lynch C., McLaughlin R., Hardiman O. Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph. Lateral Scler 2011, 12:157-159.
6. Calò C.M., Melis A., Vona G., Piras I.S. Sardinian population (Italy): a genetic review. Int. J. Mod. Anthrop 2008, 1:38-64.
7. Chiò A., Borghero G., Pugliatti M., Ticca A., Calvo A., Moglia C., Mutani R., Brunetti M., Ossola I., Marrosu M.G., Murru M.R., Floris G., Cannas A., Parish L.D., Cossu P., Abramzon Y., Johnson J.O., Nalls M.A., Arepalli S., Chong S., Hernandez D.G., Traynor B.J., Restagno G. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch. Neurol 2011, 68:594-598.
8. Chiò A., Calvo A., Moglia C., Restagno G., Ossola I., Brunetti M., Montuschi A., Cistaro A., Ticca A., Traynor B.J., Schymick J.C., Mutani R., Marrosu M.G., Murru M.R., Borghero G. Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations. Arch. Neurol 2010, 67:1002-1009.
9. Chiò A., Traynor B.J., Lombardo F., Fimognari M., Calvo A., Ghiglione P., Mutani R., Restagno G. Prevalence of SOD1 mutations in the Italian ALS population. Neurology 2008, 70:533-537.
10. Conforti F.L., Sproviero W., Simone I.L., Mazzei R., Valentino P., Ungaro C., Magariello A., Patitucci A., La Bella V., Sprovieri T., Tedeschi G., Citrigno L., Gabriele A.L., Bono F., Monsurro M.R., Muglia M., Gambardella A., Quattrone A. TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 2011, 82:587-588.
11. Corrado L., Ratti A., Gellera C., Buratti E., Castellotti B., Carlomagno Y., Ticozzi N., Mazzini L., Testa L., Taroni F., Baralle F.E., Silani V., D'Alfonso S. High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum. Mutat 2009, 30:688-694.
12. Cudkowicz M.E., McKenna-Yasek D., Sapp P.E., Chin W., Geller B., Hayden D.L., Schoenfeld D.A., Hosler B.A., Horvitz H.R., Brown R.H. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann. Neurol 1997, 41:210-221.
13. Daoud H., Valdmanis P.N., Kabashi E., Dion P., Dupré N., Camu W., Meininger V., Rouleau G.A. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis. J. Med. Genet 2008, 46:112-114.
14. DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F., Boxer A.L., Baker M., Rutherford N.J., Nicholson A.M., Finch N.A., Flynn H., Adamson J., Kouri N., Wojtas A., Sengdy P., Hsiung G.Y., Karydas A., Seeley W.W., Josephs K.A., Coppola G., Geschwind D.H., Wszolek Z.K., Feldman H., Knopman D.S., Petersen R.C., Miller B.L., Dickson D.W., Boylan K.B., Graff-Radford N.R., Rademakers R. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72:245-256.
15. Del Bo R., Ghezzi S., Corti S., Pandolfo M., Ranieri M., Santoro D., Ghione I., Prelle A., Orsetti V., Mancuso M., Sorarù G., Briani C., Angelini C., Siciliano G., Bresolin N., Comi G.P. TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur. J. Neurol 2009, 16:727-732.
16. Dormann, D., Haass, C., in press. TDP-43 and FUS: a nuclear affair. Trends Neurosci.
17. Ferraiuolo L., Kirby J., Grierson A.J., Sendtner M., Shaw P.J. Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis. Nat. Rev. Neurol 2011, 7:616-630.
18. Folstein M.F., Folstein S.E., McHigh P.R. "Mini-mental state": a practical method for grading the cognition of patients for the clinician. J. Psychiatr. Res 1975, 12:189-198. 10.1016/0022-3956(75)90026-6.
19. Gijselinck I., Sleegers K., Engelborghs S., Robberecht W., Martin J.J., Vandenberghe R., Sciot R., Dermaut B., Goossens D., van der Zee J., De Pooter T., Del-Favero J., Santens P., De Jonghe P., De Deyn P.P., Van Broeckhoven C., Cruts M. Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol. Aging 2009, 30:1329-1331.
20. Gijselinck I., Van Langenhove T., van der Zee J., Sleegers K., Philtjens S., Kleinberger G., Janssens J., Bettens K., Van Cauwenberghe C., Pereson S., Engelborghs S., Sieben A., De Jonghe P., Vandenberghe R., Santens P., De Bleecker J., Maes G., Bäumer V., Dillen L., Joris G., Cuijt I., Corsmit E., Elinck E., Van Dongen J., Vermeulen S., Van den Broeck M., Vaerenberg C., Mattheijssens M., Peeters K., Robberecht W., Cras P., Martin J.J., De Deyn P.P., Cruts M., Van Broeckhoven C. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol 2012, 11:54-65. 10.1016/S1474-4422(11)70261-7.
21. Gitcho M.A., Baloh R.H., Chakraverty S., Mayo K., Norton J.B., Levitch D., Hatanpaa K.J., White C.L., Bigio E.H., Caselli R., Baker M., Al-Lozi M.T., Morris J.C., Pestronk A., Rademakers R., Goate A.M., Cairns N.J. TDP-43 A315T mutation in familial motor neuron disease. Ann. Neurol 2008, 63:535-538.
22. Godena V.K., Romano G., Romano M., Appocher C., Klima R., Buratti E., Baralle F.E., Feiguin F. TDP-43 regulates Drosophila neuromuscular junctions growth by modulating Futsch/MAP1B levels and synaptic microtubules organization. PLoS One 2011, 6:e17808.
23. Guerreiro R.J., Schymick J.C., Crews C., Singleton A., Hardy J., Traynor B.J. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS One 2008, 3:e2450.
24. Hardiman O., van den Berg L.H., Kiernan M.C. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat. Rev. Neurol 2011, 7:639-649.
25. Huang R., Fang D.-F., Ma M.-Y., Guo X.-Y., Zhao B., Zeng Y., Zhou D., Yang Y., Shang H.-F. TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 2012, 33:1015.e1-1015.e6.
26. Igaz L.M., Kwong L.K., Lee E.B., Chen-Plotkin A., Swanson E., Unger T., Malunda J., Xu Y., Winton M.J., Trojanowski J.Q., Lee V.M. Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice. J. Clin. Invest 2011, 121:726-738.
27. Iida A., Kamei T., Sano M., Oshima S., Tokuda T., Nakamura Y., Ikegawa S. Large-scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese. Neurobiol. Aging 2012, 33:786-790.
28. Ito D., Suzuki N. Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS. Neurology 2011, 77:1636-1643.
29. Kabashi E., Lin L., Tradewell M.L., Dion P.A., Bercier V., Bourgouin P., Rochefort D., Bel Hadj S., Durham H.D., Vande Velde C., Rouleau G.A., Drapeau P. Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum. Mol. Genet 2010, 19:671-683.
30. Kabashi E., Valdmanis P.N., Dion P., Spiegelman D., McConkey B.J., Velde C.V., Bouchard J.-P., Lacomblez L., Pochigaeva K., Salachas F., Pradat P.-F., Camu W., Meininger V., Dupre N., Rouleau G.A. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat. Genet 2008, 40:572-574.
31. Kamada M., Maruyama H., Tanaka E., Morino H., Wate R., Ito H., Kusaka H., Kawano Y., Miki T., Nodera H., Izumi Y., Kaji R., Kawakami H. Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. J. Neurol. Sci 2009, 284:69-71.
32. Kimura J. Assessment of individual nerves. Techniques to assess muscle function. Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice 2001, 130-171. Oxford University Press, New York, 307-325. 3rd Edition. J. Kimura (Ed.).
33. Kirby J., Goodall E.F., Smith W., Highley J.R., Masanzu R., Hartley J.A., Hibberd R., Hollinger H.C., Wharton S.B., Morrison K.E., Ince P.G., McDermott C.J., Shaw P.J. Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. Neurogenetics 2009, 11:217-225.
34. Kraemer B.C., Schuck T., Wheeler J.M., Robinson L.C., Trojanowski J.Q., Lee V.M., Schellenberg G.D. Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis. Acta Neuropathol 2010, 119:409-419.
35. Kühnlein P., Sperfeld A.D., Vanmassenhove B., Van Deerlin V., Lee V.M., Trojanowski J.Q., Kretzschmar H.A., Ludolph A.C., Neumann M. Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. Arch. Neurol 2008, 65:1185-1189.
36. Lemmens R., Race V., Hersmus N., Matthijs G., Van Den Bosch L., Van Damme P., Dubois B., Boonen S., Goris A., Robberecht W. TDP-43 M311V mutation in familial amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 2009, 80:354-355.
37. Liu-Yesucevitz L., Bilgutay A., Zhang Y.J., Vanderweyde T., Citro A., Mehta T., Zaarur N., McKee A., Bowser R., Sherman M., Petrucelli L., Wolozin B. Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue. PLoS One 2010, 5:e13250.
38. Mackenzie I.R., Rademakers R., Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol 2010, 9:995-1007. 10.1016/S1474-4422(10)70195-2.
39. Millecamps S., Salachas F., Cazeneuve C., Gordon P., Bricka B., Camuzat A., Guillot-Noël L., Russaouen O., Bruneteau G., Pradat P.F., Le Forestier N., Vandenberghe N., Danel-Brunaud V., Guy N., Thauvin-Robinet C., Lacomblez L., Couratier P., Hannequin D., Seilhean D., Le Ber I., Corcia P., Camu W., Brice A., Rouleau G., LeGuern E., Meininger V. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J. Med. Genet 2010, 47:554-560.
40. Neumann M., Sampathu D.M., Kwong L.K., Truax A.C., Micsenyi M.C., Chou T.T., Bruce J., Schuck T., Grossman M., Clark C.M., McCluskey L.F., Miller B.L., Masliah E., Mackenzie I.R., Feldman H., Feiden W., Kretzschmar H.A., Trojanowski J.Q., Lee V.M. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314:130-133.
41. Origone P., Caponnetto C., Bandettini Di Poggio M., Ghiglione E., Bellone E., Ferrandes G., Mancardi G.L., Mandich P. Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. Amyotroph. Lateral Scler 2010, 11:223-227.
42. Orrù S., Manolakos E., Orrù N., Kokotas H., Mascia V., Carcassi C., Petersen M.B. High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis. Clin. Genet 2012, 81:172-178.
43. Piaceri, I., Del, M.M., Tedde, A., Bagnoli, S., Latorraca, S., Massaro, F., Paganini, M., Corrado, A., Sorbi, S., Nacmias, B., in press. Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis. Clin. Genet.
44. Renton A.E., Majounie E., Waite A., Simón-Sánchez J., Rollinson S., Gibbs J.R., Schymick J.C., Laaksovirta H., van Swieten J.C., Myllykangas L., Kalimo H., Paetau A., Abramzon Y., Remes A.M., Kaganovich A., Scholz S.W., Duckworth J., Ding J., Harmer D.W., Hernandez D.G., Johnson J.O., Mok K., Ryten M., Trabzuni D., Guerreiro R.J., Orrell R.W., Neal J., Murray A., Pearson J., Jansen I.E., Sondervan D., Seelaar H., Blake D., Young K., Halliwell N., Callister J.B., Toulson G., Richardson A., Gerhard A., Snowden J., Mann D., Neary D., Nalls M.A., Peuralinna T., Jansson L., Isoviita V.M., Kaivorinne A.L., Holtta-Vuori M., Ikonen E., Sulkava R., Benatar M., Wuu J., Chio A., Restagno G., Borghero G., Sabatelli M., Consortium I., Heckerman D., Rogaeva E., Zinman L., Rothstein J.D., Sendtner M., Drepper C., Eichler E.E., Alkan C., Abdullaev Z., Pack S.D., Dutra A., Pak E., Hardy J., Singleton A., Williams N.M., Heutink P., Pickering-Brown S., Morris H.R., Tienari P.J., Traynor B.J. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268.
45. Rutherford N.J., Zhang Y.J., Baker M., Gass J.M., Finch N.A., Xu Y.F., Stewart H., Kelley B.J., Kuntz K., Crook R.J., Sreedharan J., Vance C., Sorenson E., Lippa C., Bigio E.H., Geschwind D.H., Knopman D.S., Mitsumoto H., Petersen R.C., Cashman N.R., Hutton M., Shaw C.E., Boylan K.B., Boeve B., Graff-Radford N.R., Wszolek Z.K., Caselli R.J., Dickson D.W., Mackenzie I.R., Petrucelli L., Rademakers R. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet 2008, 4:e1000193.
46. Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., Ackerley S., Durnall J.C., Williams K.L., Buratti E., Baralle F., de Belleroche J., Mitchell J.D., Leigh P.N., Al-Chalabi A., Miller C.C., Nicholson G., Shaw C.E. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008, 319:1668-1672.
47. Syriani E., Morales M., Gamez J. FUS/TLS gene mutations are the second most frequent cause of familial ALS in the Spanish population. Amyotroph. Lateral Scler 2011, 12:118-123.
48. Ticozzi N., LeClerc A.L., van Blitterswijk M., Keagle P., McKenna-Yasek D.M., Sapp P.C., Silani V., Wills A.-M., Brown R.H., Landers J.E. Mutational analysis of TARDBP in neurodegenerative diseases. Neurobiol. Aging 2011, 32:2096-2099.
49. Tsai C.P., Soong B.W., Lin K.P., Tu P.H., Lin J.L., Lee Y.C. FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiol. Aging 2011, 32:e513-e521.
50. Van Deerlin V.M., Leverenz J.B., Bekris L.M., Bird T.D., Yuan W., Elman L.B., Clay D., Wood E.M., Chen-Plotkin A.S., Martinez-Lage M., Steinbart E., McCluskey L., Grossman M., Neumann M., Wu I.L., Yang W.S., Kalb R., Galasko D.R., Montine T.J., Trojanowski J.Q., Lee V.M., Schellenberg G.D., Yu C.E. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008, 7:409-416. 10.1016/S1474-4422(08)70071-1.
51. Williams K.L., Durnall J.C., Thoeng A.D., Warraich S.T., Nicholson G.A., Blair I.P. A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred. J. Neurol. Neurosurg. Psychiatry 2009, 80:1286-1288.
52. Wils H., Kleinberger G., Janssens J., Pereson S., Joris G., Cuijt I., Smits V., Ceuterick-de Groote C., Van Broeckhoven C., Kumar-Singh S. TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:3858-3863.
53. Xiong H.L., Wang J.Y., Sun Y.M., Wu J.J., Chen Y., Qiao K., Zheng Q.J., Zhao G.X., Wu Z.Y. Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis. BMC Med. Genet 2010, 11:8.
54. Yokoseki A., Shiga A., Tan C.-F., Tagawa A., Kaneko H., Koyama A., Eguchi H., Tsujino A., Ikeuchi T., Kakita A., Okamoto K., Nishizawa M., Takahashi H., Onodera O. TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann. Neurol 2008, 63:538-542.