A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

Neurobiology of Aging

Volumn 34, Issue 5, 2013, Pages 1516.e9-1516.e15

  Weishaupt, Jochen H ^a   Waibel, Stefan ^a   Birve, Anna ^b   Volk, Alexander E ^a   Mayer, Benjamin ^a   Meyer, Thomas ^c   Ludolph, Albert C ^a   Andersen, Peter M ^a,b  

^a UNIVERSITY OF ULM   (Germany)

^b UMEÅ UNIVERSITY   (Sweden)

^c HUMBOLDT UNIVERSITY   (Germany)

Author keywords

Familial ALS; Glaucoma; Optineurin; Retinal degeneration; Truncating mutation

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; OPTINEURIN;

ADULT; AGED; ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; COMORBIDITY; CONTROLLED STUDY; FAMILIAL DISEASE; FEMALE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; GERMANY; GLAUCOMA; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; ONSET AGE; OPTINEURIN GENE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RETINA GANGLION CELL; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION;

EID: 84873426054     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2012.09.007     Document Type: Article

References (44)

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. Ayala-Lugo R.M., Pawar H., Reed D.M., Lichter P.R., Moroi S.E., Page M., Eadie J., Azocar V., Maul E., Ntim-Amponsah C., Bromley W., Obeng-Nyarkoh E., Johnson A.T., Kijek T.G., Downs C.A., Johnson J.M., Perez-Grossmann R.A., Guevara-Fujita M.L., Fujita R., Wallace M.R., Richards J.E. Variation in optineurin (OPTN) allele frequencies between and within populations. Mol. Vis. 2007, 13:151-163.
3. 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.
4. Caixeta-Umbelino C., de Vasconcellos J.P., Costa V.P., Kasahara N., Della Paolera M., de Almeida G.V., Cohen R., Mandia C., Rocha M.N., Richeti F., Longui C.A., de Melo M.B. Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. Ophthalmic Genet. 2009, 30:13-18.
5. Chalasani M.L., Swarup G., Balasubramanian D. Optineurin and its mutants: molecules associated with some forms of glaucoma. Ophthalmic Res. 2009, 42:176-184.
6. Cheng J.W., Li P., Wei R.L. Meta-analysis of association between optineurin gene and primary open-angle glaucoma. Med. Sci. Monit. 2010, 16:CR369-CR377.
7. Chi Z.L., Akahori M., Obazawa M., Minami M., Noda T., Nakaya N., Tomarev S., Kawase K., Yamamoto T., Noda S., Sasaoka M., Shimazaki A., Takada Y., Iwata T. Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice. Hum. Mol. Genet. 2010, 19:2606-2615.
8. Craig J.E., Hewitt A.W., Dimasi D.P., Howell N., Toomes C., Cohn A.C., Mackey D.A. The role of the Met98Lys optineurin variant in inherited optic nerve diseases. Br. J. Ophthalmol. 2006, 90:1420-1424.
9. 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.
10. Del Bo R., Tiloca C., Pensato V., Corrado L., Ratti A., Ticozzi N., Corti S., Castellotti B., Mazzini L., Soraru G., Cereda C., D'Alfonso S., Gellera C., Comi G.P., Silani V. Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 2011, 82:1239-1243.
11. De Marco N., Buono M., Troise F., Diez-Roux G. Optineurin increases cell survival and translocates to the nucleus in a Rab8-dependent manner upon an apoptotic stimulus. J. Biol. Chem. 2006, 281:16147-16156.
12. Deng H.X., Bigio E.H., Zhai H., Fecto F., Ajroud K., Shi Y., Yan J., Mishra M., Ajroud-Driss S., Heller S., Sufit R., Siddique N., Mugnaini E., Siddique T. Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations. Arch. Neurol. 2011, 68:1057-1061.
13. Felbecker A., Camu W., Valdmanis P.N., Sperfeld A.D., Waibel S., Steinbach P., Rouleau G.A., Ludolph A.C., Andersen P.M. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?. J. Neurol. Neurosurg. Psychiatry 2010, 81:572-577.
14. Gemenetzi M., Yang Y., Lotery A.J. Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment. Eye (Lond.) 2012, 26:355-369.
15. 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.
16. Iida A., Hosono N., Sano M., Kamei T., Oshima S., Tokuda T., Kubo M., Nakamura Y., Ikegawa S. Optineurin mutations in Japanese amyotrophic lateral sclerosis. J. Neurol. Neurosurg. Psychiatry 2012, 83:233-235.
17. Iida A., Hosono N., Sano M., Kamei T., Oshima S., Tokuda T., Nakajima M., Kubo M., Nakamura Y., Ikegawa S. Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese. Neurobiol. Aging 2012, 33:1843.e19-1843.e24.
18. Kabashi E., Valdmanis P.N., Dion P., Spiegelman D., McConkey B.J., Vande Velde C., 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.
19. 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.
20. Kuhnlein 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.
21. 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.
22. Li Y., Kang J., Horwitz M.S. Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains. Mol. Cell. Biol. 1998, 18:1601-1610.
23. Liu Y., Akafo S., Santiago-Turla C., Cohen C.S., Larocque-Abramson K.R., Qin X., Herndon L.W., Challa P., Schmidt S., Hauser M.A., Allingham R.R. Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma. Mol. Vis. 2008, 14:2367-2372.
24. Lucas D.R., Newhouse J.P. The toxic effect of sodium L-glutamate on the inner layers of the retina. AMA Arch. Ophthalmol. 1957, 58:193-201.
25. Maruyama H., Morino H., Ito H., Izumi Y., Kato H., Watanabe Y., Kinoshita Y., Kamada M., Nodera H., Suzuki H., Komure O., Matsuura S., Kobatake K., Morimoto N., Abe K., Suzuki N., Aoki M., Kawata A., Hirai T., Kato T., Ogasawara K., Hirano A., Takumi T., Kusaka H., Hagiwara K., Kaji R., Kawakami H. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010, 465:223-226.
26. Millecamps S., Boillee S., Chabrol E., Camu W., Cazeneuve C., Salachas F., Pradat P.F., Danel-Brunaud V., Vandenberghe N., Corcia P., Le Forestier N., Lacomblez L., Bruneteau G., Seilhean D., Brice A., Feingold J., Meininger V., LeGuern E. Screening of OPTN in French familial amyotrophic lateral sclerosis. Neurobiol. Aging 2011, 32:557.e11-557.e13.
27. Munch C., Sedlmeier R., Meyer T., Homberg V., Sperfeld A.D., Kurt A., Prudlo J., Peraus G., Hanemann C.O., Stumm G., Ludolph A.C. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004, 63:724-726.
28. Olney J.W. Glutaate-induced retinal degeneration in neonatal mice. Electron microscopy of the acutely evolving lesion. J. Neuropathol. Exp. Neurol. 1969, 28:455-474.
29. Rabe M., Felbecker A., Waibel S., Steinbach P., Winter P., Muller U., Ludolph A.C. The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families. J. Neurol. 2010, 257:1298-1302.
30. 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. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268.
31. Rezaie T., Child A., Hitchings R., Brice G., Miller L., Coca-Prados M., Heon E., Krupin T., Ritch R., Kreutzer D., Crick R.P., Sarfarazi M. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 2002, 295:1077-1079.
32. Rollinson S., Bennion J., Toulson G., Halliwell N., Usher S., Snowden J., Richardson A., Neary D., Mann D., Pickering-Brown S.M. Analysis of optineurin in frontotemporal lobar degeneration. Neurobiol. Aging 2012, 33:425.e1-425.e2.
33. 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 [erratum in 1993;364:362]. Nature 1993, 362:59-62.
34. Sippl C., Bosserhoff A.K., Fischer D., Tamm E.R. Depletion of optineurin in RGC-5 cells derived from retinal neurons causes apoptosis and reduces the secretion of neurotrophins. Exp. Eye. Res. 2011, 93:669-680.
35. Solski J.A., Williams K.L., Yang S., Nicholson G.A., Blair I.P. Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis. Neurobiol. Aging 2012, 33:210.e9-210.e10.
36. 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.
37. Sugihara K., Maruyama H., Kamada M., Morino H., Kawakami H. Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population. Neurobiol. Aging 2011, 32:1923.e9-1923.e10.
38. Tumer Z., Bertelsen B., Gredal O., Magyari M., Nielsen K.C., Lucamp, Gronskov K., Brondum-Nielsen K. Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS. Neurobiol. Aging 2012, 33:208.e1-208.e5.
39. 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.
40. 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.
41. 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.
42. Waibel S., Neumann M., Rabe M., Meyer T., Ludolph A.C. Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology 2010, 75:815-817.
43. Xiao Z., Meng Q., Tsai J.C., Yuan H., Xu N., Li Y. A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family. Mol. Vis. 2009, 15:1649-1654.
44. Ying H., Yue B.Y. Cellular and molecular biology of optineurin. Int. Rev. Cell. Mol. Biol. 2012, 294:223-258.