Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Neurobiology of Aging

Volumn 36, Issue 3, 2015, Pages 1602.e17-1602.e27

  Smith, Bradley N ^a   Vance, Caroline ^a   Scotter, Emma L ^a   Troakes, Claire ^a   Wong, Chun Hao ^a   Topp, Simon ^a   Maekawa, Satomi ^a   King, Andrew ^a   Mitchell, Jacqueline C ^a   Lund, Karan ^a   Al Chalabi, Ammar ^a   Ticozzi, Nicola ^b   Silani, Vincenzo ^b   Sapp, Peter ^c   Brown, Robert H ^c   Landers, John E ^c   Al Sarraj, Safa ^a   Shaw, Christopher E ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

Amyotrophic lateral sclerosis; Profilin 1; TDP 43 proteinopathy

Indexed keywords

OLIGOMER; TAR DNA BINDING PROTEIN; DNA BINDING PROTEIN; PROFILIN; PROTEIN TDP-43;

AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOPSY; CELL GRANULE; CONTROLLED STUDY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR WEIGHT; NEUROPATHOLOGY; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROFILIN 1 GENE; PROTEIN AGGREGATION; SKIN FIBROBLAST; ALLELE; ANIMAL; CASE CONTROL STUDY; CELL CULTURE; COHORT ANALYSIS; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; META ANALYSIS (TOPIC); METABOLISM; MUTATION; PATHOLOGY; PROTEINOSIS;

ALLELES; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; CASE-CONTROL STUDIES; CELLS, CULTURED; COHORT STUDIES; DNA-BINDING PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MALE; META-ANALYSIS AS TOPIC; MUTATION; PROFILINS; PROTEIN AGGREGATION, PATHOLOGICAL;

EID: 84923474658     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.10.032     Document Type: Article

References (33)

1. Abramzon Y., Johnson J.O., Scholz S.W., Taylor J.P., Brunetti M., Calvo A., Mandrioli J., Benatar M., Mora G., Restagno G., Chio A., Traynor B.J. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 2012, 33:2231.e1-2231.e6.
2. Adzhubei I.A., Schmidt S., Peshkin L., Ramensky V.E., Gerasimova A., Bork P., Kondrashov A.S., Sunyaev S.R. Amethod and server for predicting damaging missense mutations. Nat. Methods 2010, 7:248-249.
3. Al-Chalabi A., Jones A., Troakes C., King A., Al-Sarraj S., van den Berg L.H. The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol. 2012, 124:339-352.
4. Arnold K., Bordoli L., Kopp J., Schwede T. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics 2006, 22:195-201.
5. Brooks B.R. Versailles minimal dataset for diagnosis of ALS: a distillate of the 2nd Consensus Conference on accelerating the diagnosis of ALS. Versailles 2nd Consensus Conference participants. Amyotroph. Lateral Scler. Other Mot. Neuron Disord. 2000, 1(Suppl 1):S79-S81.
6. Capriotti E., Fariselli P., Rossi I., Casadio R. Athree-state prediction of single point mutations on protein stability changes. BMC Bioinformatics 2008, 9(Suppl 2):S6.
7. Chen Y., Zheng Z.Z., Huang R., Chen K., Song W., Zhao B., Chen X., Yang Y., Yuan L., Shang H.F. PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis. Neurobiol. Aging 2013, 34:1922.e1-1922.e5.
8. Choi Y., Sims G.E., Murphy S., Miller J.R., Chan A.P. Predicting the functional effect of amino acid substitutions and indels. PLoS One 2012, 7:e46688.
9. 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 2013, 34:1311.e1-1311.e2.
10. Dehouck Y., Kwasigroch J.M., Gilis D., Rooman M. PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality. BMC Bioinformatics 2011, 12:151.
11. 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.
12. Dillen L., Van Langenhove T., Engelborghs S., Vandenbulcke M., Sarafov S., Tournev I., Merlin C., Cras P., Vandenberghe R., De Deyn P.P., Jordanova A., Cruts M., Van Broeckhoven C., van der Zee J. Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients. Neurobiol. Aging 2013, 34:1711.e1-1711.e5.
13. Fratta P., Charnock J., Collins T., Devoy A., Howard R., Malaspina A., Orrell R., Sidle K., Clarke J., Shoai M., Lu C.H., Hardy J., Plagnol V., Fisher E.M. Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J.Neurol. Neurosurg. Psychiatry 2013, 85:506-508.
14. Gamerdinger M., Hajieva P., Kaya A.M., Wolfrum U., Hartl F.U., Behl C. Protein quality control during aging involves recruitment of the macroautophagy pathway by BAG3. EMBO J. 2009, 28:889-901.
15. Hebsgaard S.M., Korning P.G., Tolstrup N., Engelbrecht J., Rouze P., Brunak S. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res. 1996, 24:3439-3452.
16. 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.
17. Johansson M.U., Zoete V., Michielin O., Guex N. Defining and searching forstructural motifs using DeepView/Swiss-PdbViewer. BMC Bioinformatics 2012, 13:173.
18. Kwok C.T., Morris A., de Belleroche J.S. Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. Eur. J. Hum. Genet 2013, 22:492-496.
19. Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970, 227:680-685.
20. 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 andfrontotemporal lobar degeneration in France. Neurobiol. Aging 2012, 34:1709.e1-1709.e2.
21. Maekawa S., Leigh P.N., King A., Jones E., Steele J.C., Bodi I., Shaw C.E., Hortobagyi T., Al-Sarraj S. TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations. Neuropathology 2009, 29:672-683.
22. Ng P.C., Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001, 11:863-874.
23. Scotter E.L., Vance C., Nishimura A.L., Lee Y.B., Chen H.J., Urwin H., Sardone V., Mitchell J.C., Rogelj B., Rubinsztein D.C., Shaw C.E. Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species. J.Cell Sci. 2014, 127(Pt 6):1263-1278.
24. 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.
25. Tydlacka S., Wang C.E., Wang X., Li S., Li X.J. Differential activities of the ubiquitin-proteasome system in neurons versus glia may account for the preferential accumulation of misfolded proteins in neurons. J.Neurosci. 2008, 28:13285-13295.
26. van Blitterswijk M., Baker M.C., Bieniek K.F., Knopman D.S., Josephs K.A., Boeve B., Caselli R., Wszolek Z.K., Petersen R., Graff-Radford N.R., Boylan K.B., Dickson D.W., Rademakers R. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotroph. Lateral Scler. Frontotemporal Degener. 2013, 4:463-469.
27. van Blitterswijk M., van Es M.A., Hennekam E.A., Dooijes D., van Rheenen W., Medic J., Bourque P.R., Schelhaas H.J., van der Kooi A.J., de Visser M., de Bakker P.I., Veldink J.H., van den Berg L.H. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum. Mol. Genet. 2012, 21:3776-3784.
28. van Blitterswijk M., van Vught P.W., van Es M.A., Schelhaas H.J., van der Kooi A.J., de Visser M., Veldink J.H., van den Berg L.H. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiol. Aging 2012, 33:1016.e1-1016.e7.
29. Vance C., Scotter E.L., Nishimura A.L., Troakes C., Mitchell J.C., Kathe C., Urwin H., Manser C., Miller C.C., Hortobagyi T., Dragunow M., Rogelj B., Shaw C.E. ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules. Hum. Mol. Genet. 2013, 22:2676-2688.
30. Worth, C.L., Burke, D.F., Blundell, T.L., 2007. Estimating the effects of single nucleotide polymorphisms on protein structure: how good are we at identifying likely disease associated mutations? Proceedings of Molecular Interactions - Bringing Chemistry to Life, 11-26.
31. 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.
32. Yang S., Fifita J.A., Williams K.L., Warraich S.T., Pamphlett R., Nicholson G.A., Blair I.P. Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis. Neurobiol. Aging 2013, 34:2235.e7-2235.e10.
33. Zou Z., Sun Q., Liu M., Li X., Cui L. Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin. Neurobiol. Aging 2013, 34:1713.e5-1713.e6.