Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis

Neurobiology of Aging

Volumn 34, Issue 9, 2013, Pages 2235.e7-2235.e10

  Yang, Shu ^a,b   Fifita, Jennifer A ^a,b   Williams, Kelly L ^a,b,c   Warraich, Sadaf T ^a,c   Pamphlett, Roger ^c,d   Nicholson, Garth A ^a,b,c,e   Blair, Ian P ^a,b,c  

^a ANZAC RESEARCH INSTITUTE   (Australia)

^b MACQUARIE UNIVERSITY   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e ANZAC Research Institute   (Australia)

Author keywords

Amyotrophic lateral sclerosis; Cellular pathology; Mutation; PFN1

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; FUSED IN SARCOMA PROTEIN; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUSTRALIAN; C9ORF72 GENE; COHORT ANALYSIS; CONTROLLED STUDY; ETHNIC GROUP; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FUS GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC SCREENING; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IMMUNOPATHOLOGY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROFILIN 1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SOD1 GENE; SPORADIC AMYOTROPHIC LATERAL SCLEROSIS; UBQLN2 GENE;

EID: 84878913868     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.04.003     Document Type: Article

References (20)

1. Brooks B.R., Miller R.G., Swash M., Munsat T.L. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lat. Scler. Other Mot. Neuron Disord. 2000, 1:293-299.
2. Daoud H., Dobrzeniecka S., Camu W., Meininger V., Dupre N., Dion P.A., Rouleau G.A. Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients. Neurobiol. Aging 2012, 34:1311.e1-1311.e2.
3. 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.
4. Deng H.X., Chen W., Hong S.T., Boycott K.M., Gorrie G.H., Siddique N., Yang Y., Fecto F., Shi Y., Zhai H., Jiang H., Hirano M., Rampersaud E., Jansen G.H., Donkervoort S., Bigio E.H., Brooks B.R., Ajroud K., Sufit R.L., Haines J.L., Mugnaini E., Pericak-Vance M.A., Siddique T. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011, 477:211-215.
5. Hardiman O. Amyotrophic Lateral Sclerosis, eLS 2010, John Wiley & Sons, Ltd.
6. Ingre C., Landers J.E., Rizik N., Volk A.E., Akimoto C., Birve A., Hubers A., Keagle P.J., Piotrowska K., Press R., Andersen P.M., Ludolph A.C., Weishaupt J.H. Anovel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts. Neurobiol. Aging 2013, 34:1708.e1-1708.e6.
7. Keller B.A., Volkening K., Droppelmann C.A., Ang L.C., Rademakers R., Strong M.J. Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism. Acta Neuropathol. 2012, 124:733-747.
8. Kwiatkowski T.J., Bosco D.A., LeClerc A.L., Tamrazian E., Vanderburg C.R., Russ C., Davis A., Gilchrist J., Kasarskis E.J., Munsat T., Valdmanis P., Rouleau G.A., Hosler B.A., Cortelli P., de Jong P.J., Yoshinaga Y., Haines J.L., Pericak-Vance M.A., Yan J., Ticozzi N., Siddique T., McKenna-Yasek D., Sapp P.C., Horvitz H.R., Landers J.E., Brown R.H. Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis. Science 2009, 323:1205-1208.
9. Lattante S., Le Ber I., Camuzat A., Brice A., Kabashi E. Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France. Neurobiol. Aging 2012, 34:1709.e1-1709.e2.
10. Majounie E., Renton A.E., Mok K., Dopper E.G.P., Waite A., Rollinson S., ChiÃ2 A., Restagno G., Nicolaou N., Simon-Sanchez J., van Swieten J.C., Abramzon Y., Johnson J.O., Sendtner M., Pamphlett R., Orrell R.W., Mead S., Sidle K.C., Houlden H., Rohrer J.D., Morrison K.E., Pall H., Talbot K., Ansorge O., Hernandez D.G., Arepalli S., Sabatelli M., Mora G., Corbo M., Giannini F., Calvo A., Englund E., Borghero G., Floris G.L., Remes A.M., Laaksovirta H., McCluskey L., Trojanowski J.Q., Van Deerlin V.M., Schellenberg G.D., Nalls M.A., Drory V.E., Lu C.-S., Yeh T.-H., Ishiura H., Takahashi Y., Tsuji S., Le Ber I., Brice A., Drepper C., Williams N., Kirby J., Shaw P., Hardy J., Tienari P.J., Heutink P., Morris H.R., Pickering-Brown S., Traynor B.J. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012, 11:323-330.
11. Mockrin S.C., Korn E.D. Acanthamoeba profilin interacts with G-actin to increase the rate of exchange of actin-bound adenosine 5'-triphosphate. Biochemistry 1980, 19:5359-5362.
12. 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.
13. Redler R.L., Dokholyan N.V. The complex molecular biology of amyotrophic lateral sclerosis (ALS). Prog. Mol. Biol. Transl. Sci. 2012, 107:215-262.
14. Renton A.E., Majounie E., Waite A., Simon-Sanchez 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., 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. Ahexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268.
15. Rosen D.R., Siddique T., Patterson D., Figlewicz D.A., Sapp P., Hentati A., Donaldson D., Goto J., O'Regan J.P., Deng H.X. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362:59-62.
16. 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.
17. Tiloca C., Ticozzi N., Pensato V., Corrado L., Del Bo R., Bertolin C., Fenoglio C., Gagliardi S., Calini D., Lauria G., Castellotti B., Bagarotti A., Corti S., Galimberti D., Cagnin A., Gabelli C., Ranieri M., Ceroni M., Siciliano G., Mazzini L., Cereda C., Scarpini E., Soraru G., Comi G.P., D'Alfonso S., Gellera C., Ratti A., Landers J.E., Silani V. Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia. Neurobiol. Aging 2012, 34:1517.e9-1517.e10.
18. Vance C., Rogelj B., Hortobagyi T., De Vos K.J., Nishimura A.L., Sreedharan J., Hu X., Smith B., Ruddy D., Wright P., Ganesalingam J., Williams K.L., Tripathi V., Al-Saraj S., Al-Chalabi A., Leigh P.N., Blair I.P., Nicholson G., de Belleroche J., Gallo J.-M., Miller C.C., Shaw C.E. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323:1208-1211.
19. Williams K.L., Warraich S.T., Yang S., Solski J.A., Fernando R., Rouleau G.A., Nicholson G.A., Blair I.P. UBQLN2/ubiquilin 2 mutation and pathologyin familial amyotrophic lateral sclerosis. Neurobiol. Aging 2012, 33:2527.e3-2527.e10.
20. Wu C.H., Fallini C., Ticozzi N., Keagle P.J., Sapp P.C., Piotrowska K., Lowe P., Koppers M., McKenna-Yasek D., Baron D.M., Kost J.E., Gonzalez-Perez P., Fox A.D., Adams J., Taroni F., Tiloca C., Leclerc A.L., Chafe S.C., Mangroo D., Moore M.J., Zitzewitz J.A., Xu Z.S., van den Berg L.H., Glass J.D., Siciliano G., Cirulli E.T., Goldstein D.B., Salachas F., Meininger V., Rossoll W., Ratti A., Gellera C., Bosco D.A., Bassell G.J., Silani V., Drory V.E., Brown R.H., Landers J.E. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 2012, 488:499-503.