The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway

Biochemical and Biophysical Research Communications

Volumn 421, Issue 3, 2012, Pages 544-549

  Han, Jeong Ho ^a   Ryu, Hyun Hee ^a   Jun, Mi Hee ^a   Jang, Deok Jin ^b   Lee, Jin A ^a  

^a Hannam University   (South Korea)

^b Kyungpook National University   (South Korea)

Author keywords

Autophagy; CHMP2B; Endocytosis; ESCRT; Neurodegenerative disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CHARGED MULTIVESICULAR BODY PROTEIN 2B; EPIDERMAL GROWTH FACTOR RECEPTOR; ESCRT PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOPHAGOSOME; BIOACCUMULATION; CARBOXY TERMINAL SEQUENCE; CELL SURVIVAL; CONTROLLED STUDY; DEGENERATIVE DISEASE; ENDOCYTOSIS; ENDOSOME; GENETIC ASSOCIATION; GENETIC TRANSFECTION; IMMUNOCYTOCHEMISTRY; INTRON; LYSOSOME; MISSENSE MUTATION; MOLECULAR CLONING; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; NERVE CELL; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN MOTIF; PROTEIN PROTEIN INTERACTION; RAT; WESTERN BLOTTING;

ADENOSINE TRIPHOSPHATASES; AUTOPHAGY; CELL SURVIVAL; CELLS, CULTURED; ENDOSOMAL SORTING COMPLEXES REQUIRED FOR TRANSPORT; HUMANS; LYSOSOMES; MITOSIS; MUTATION, MISSENSE; NEURODEGENERATIVE DISEASES; NEURONS; PROTEOLYSIS; RECEPTOR, EPIDERMAL GROWTH FACTOR;

EID: 84860692461     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.04.041     Document Type: Article

References (29)

1. Hurley J.H., Boura E., Carlson L.A., Rozycki B. Membrane budding. Cell 2010, 143:875-887.
2. Schmidt O., Teis D. The ESCRT machinery. Curr. Biol. 2012, 22:R116-R120.
3. Babst M., Katzmann D.J., Estepa-Sabal E.J., Meerloo T., Emr S.D. Escrt-III: an endosome-associated heterooligomeric protein complex required for mvb sorting. Dev. Cell 2002, 3:271-282.
4. Babst M., Katzmann D.J., Snyder W.B., Wendland B., Emr S.D. Endosome-associated complex, ESCRT-II, recruits transport machinery for protein sorting at the multivesicular body. Dev. Cell 2002, 3:283-289.
5. Katzmann D.J., Babst M., Emr S.D. Ubiquitin-dependent sorting into the multivesicular body pathway requires the function of a conserved endosomal protein sorting complex, ESCRT-I. Cell 2001, 106:145-155.
6. Davies B.A., Azmi I.F., Payne J., Shestakova A., Horazdovsky B.F., Babst M., Katzmann D.J. Coordination of substrate binding and ATP hydrolysis in Vps4-mediated ESCRT-III disassembly. Mol. Biol. Cell 2010, 21:3396-3408.
7. Adell M.A., Teis D. Assembly and disassembly of the ESCRT-III membrane scission complex. FEBS Lett. 2011, 585:3191-3196.
8. Roxrud I., Stenmark H., Malerod L. ESCRT & Co. Biol. Cell 2010, 102:293-318.
9. Rusten T.E., Simonsen A. ESCRT functions in autophagy and associated disease. Cell Cycle 2008, 7:1166-1172.
10. Saksena S., Emr S.D. ESCRTs and human disease. Biochem. Soc. Trans. 2009, 37:167-172.
11. Stuffers S., Brech A., Stenmark H. ESCRT proteins in physiology and disease. Exp. Cell Res. 2009, 315:1619-1626.
12. Kim B.Y., Olzmann J.A., Barsh G.S., Chin L.S., Li L. Spongiform neurodegeneration-associated E3 ligase Mahogunin ubiquitylates TSG101 and regulates endosomal trafficking. Mol. Biol. Cell 2007, 18:1129-1142.
13. Jiao J., Sun K., Walker W.P., Bagher P., Cota C.D., Gunn T.M. Abnormal regulation of TSG101 in mice with spongiform neurodegeneration. Biochim. Biophys. Acta 2009, 1792:1027-1035.
14. Reid E., Connell J., Edwards T.L., Duley S., Brown S.E., Sanderson C.M. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Hum. Mol. Genet. 2005, 14:19-38.
15. Isaacs A.M., Johannsen P., Holm I., Nielsen J.E. Frontotemporal dementia caused by CHMP2B mutations. Curr. Alzheimer Res. 2011, 8:246-251.
16. Skibinski G., Parkinson N.J., Brown J.M., Chakrabarti L., Lloyd S.L., Hummerich H., Nielsen J.E., Hodges J.R., Spillantini M.G., Thusgaard T., Brandner S., Brun A., Rossor M.N., Gade A., Johannsen P., Sorensen S.A., Gydesen S., Fisher E.M., Collinge J. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat. Genet. 2005, 37:806-808.
17. Lee J.A., Beigneux A., Ahmad S.T., Young S.G., Gao F.B. ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration. Curr. Biol. 2007, 17:1561-1567.
18. Filimonenko M., Stuffers S., Raiborg C., Yamamoto A., Malerod L., Fisher E.M., Isaacs A., Brech A., Stenmark H., Simonsen A. Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J. Cell Biol. 2007, 179:485-500.
19. Ghazi-Noori S., Froud K.E., Mizielinska S., Powell C., Smidak M., Fernandez de Marco M., O'Malley C., Farmer M., Parkinson N., Fisher E.M., Asante E.A., Brandner S., Collinge J., Isaacs A.M. Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. Brain 2012, 135:819-832.
20. Momeni P., Rogaeva E., Van Deerlin V., Yuan W., Grafman J., Tierney M., Huey E., Bell J., Morris C.M., Kalaria R.N., van Rensburg S.J., Niehaus D., Potocnik F., Kawarai T., Salehi-Rad S., Sato C., St George-Hyslop P., Hardy J. Genetic variability in CHMP2B and frontotemporal dementia. Neurodegener. Dis. 2006, 3:129-133.
21. van der Zee J., Urwin H., Engelborghs S., Bruyland M., Vandenberghe R., Dermaut B., De Pooter T., Peeters K., Santens P., De Deyn P.P., Fisher E.M., Collinge J., Isaacs A.M., Van Broeckhoven C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum. Mol. Genet. 2008, 17:313-322.
22. Urwin H., Authier A., Nielsen J.E., Metcalf D., Powell C., Froud K., Malcolm D.S., Holm I., Johannsen P., Brown J., Fisher E.M., van der Zee J., Bruyland M., Van Broeckhoven C., Collinge J., Brandner S., Futter C., Isaacs A.M. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum. Mol. Genet. 2010, 19:2228-2238.
23. Parkinson N., Ince P.G., Smith M.O., Highley R., Skibinski G., Andersen P.M., Morrison K.E., Pall H.S., Hardiman O., Collinge J., Shaw P.J., Fisher E.M. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 2006, 67:1074-1077.
24. Cox L.E., Ferraiuolo L., Goodall E.F., Heath P.R., Higginbottom A., Mortiboys H., Hollinger H.C., Hartley J.A., Brockington A., Burness C.E., Morrison K.E., Wharton S.B., Grierson A.J., Ince P.G., Kirby J., Shaw P.J. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One 2010, 5:e9872.
25. Ghanim M., Guillot-Noel L., Pasquier F., Jornea L., Deramecourt V., Dubois B., Le Ber I., Brice A. CHMP2B mutations are rare in French families with frontotemporal lobar degeneration. J. Neurol. 2010, 257:2032-2036.
26. Lee J.A., Gao F.B. Inhibition of autophagy induction delays neuronal cell loss caused by dysfunctional ESCRT-III in frontotemporal dementia. J. Neurosci. 2009, 29:8506-8511.
27. Futter C.E., Pearse A., Hewlett L.J., Hopkins C.R. Multivesicular endosomes containing internalized EGF-EGF receptor complexes mature and then fuse directly with lysosomes. J. Cell Biol. 1996, 132:1011-1023.
28. Stuchell-Brereton M.D., Skalicky J.J., Kieffer C., Karren M.A., Ghaffarian S., Sundquist W.I. ESCRT-III recognition by VPS4 ATPases. Nature 2007, 449:740-744.
29. Metcalf D., Isaacs A.M. The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes. Biochem. Soc. Trans. 2010, 38:1469-1473.