Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics

Biochemical and Biophysical Research Communications

Volumn 462, Issue 3, 2015, Pages 275-281

  Miyamoto, Yuki ^a   Eguchi, Takahiro ^b   Kawahara, Kazuko ^a   Hasegawa, Nanami ^a,c   Nakamura, Kazuaki ^a   Funakoshi Tago, Megumi ^c   Tanoue, Akito ^a   Tamura, Hiroomi ^c   Yamauchi, Junji ^a,d  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c KEIO UNIVERSITY   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

Author keywords

Dynamics; Fission and fusion cycle; HLD4; HSPD1; Mitochondria

Indexed keywords

CHAPERONIN 60; FLUORESCENT DYE; MYELIN; HSPD1 PROTEIN, HUMAN; HYBRID PROTEIN; MITOCHONDRIAL PROTEIN;

ANIMAL CELL; ARTICLE; BRAIN MITOCHONDRION; BRAIN REGION; CONTROLLED STUDY; DEMYELINATION; GENETIC ASSOCIATION; LEUKODYSTROPHY; MISSENSE MUTATION; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL MEMBRANE POTENTIAL; MITOCHONDRIAL TARGETING SIGNAL; MUTANT; MYELIN SHEATH; NEUROPATHOLOGY; NONHUMAN; OLIGODENDROGLIA; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; ANIMAL; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; DEMYELINATING DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; HUMAN; METABOLISM; MITOCHONDRION; PATHOLOGY; ULTRASTRUCTURE;

AMINO ACID SUBSTITUTION; ANIMALS; CERCOPITHECUS AETHIOPS; CHAPERONIN 60; COS CELLS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL PROTEINS; MUTATION, MISSENSE; RECOMBINANT FUSION PROTEINS;

EID: 84930177976     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2015.04.132     Document Type: Article

References (23)

1. R.H. Miller Regulation of oligodendrocyte development in the vertebrate CNS Prog. Neurobiol. 67 2002 451 467
2. K.A. Nave, and B.D. Trapp Axon-glial signaling and the glial support of axon function Annu. Rev. Neurosci. 31 2008 535 561
3. M. Simons, and D.A. Lyons Axonal selection and myelin sheath generation in the central nervous system Curr. Opin. Cell Biol. 25 2013 512 519
4. R.J. Franklin, and V. Gallo The translational biology of remyelination: past, present, and future Glia 62 2014 1905 1915
5. J. Garbern, F. Cambi, M. Shy, and J. Kamholz The molecular pathogenesis of Pelizaeus-Merzbacher disease Arch. Neurol. 56 1999 1210 1214
6. A.S. Dhaunchak, D.R. Colman, and K.A. Nave Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease J. Neurosci. 31 2011 14961 14971
7. T. Torii, Y. Miyamoto, J. Yamauchi, and A. Tanoue Pelizaeus-Merzbacher disease: cellular pathogenesis and pharmacologic therapy Pediatr. Int. 56 2014 659 666
8. D. Magen, C. Georgopoulos, P. Bross, D. Ang, Y. Segev, D. Goldsher, A. Nemirovski, E. Shahar, S. Ravid, A. Luder, B. Heno, R. Gershoni-Baruch, K. Skorecki, and H. Mandel Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy Am. J. Hum. Genet. 83 2008 30 42
9. A.L. Horwich, W.A. Fenton, E. Chapman, and G.W. Farr Two families of chaperonin: physiology and mechanism Annu. Rev. Cell Dev. Biol. 23 2007 115 145
10. Y.E. Kim, M.S. Hipp, A. Bracher, M. Hayer-Hartl, and F.U. Hartl Molecular chaperone functions in protein folding and proteostasis Annu. Rev. Biochem. 82 2013 323 355
11. Y. Miyamoto, T. Torii, N. Yamamori, T. Ogata, A. Tanoue, and J. Yamauchi Akt and PP2A reciprocally regulate the guanine nucleotide exchange factor Dock6 to control axon growth of sensory neurons Sci. Signal 6 2013 ra15
12. T. Torii, Y. Miyamoto, K. Tago, K. Sango, K. Nakamura, A. Sanbe, A. Tanoue, and J. Yamauchi Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth J. Biol. Chem. 289 2014 33887 33903
13. A. Parnas, M. Nadler, S. Nisemblat, A. Horovitz, H. Mandel, and A. Azem The MitCHAP-60 disease is due to entropic destabilization of the human mitochondrial Hsp60 oligomer J. Biol. Chem. 284 2009 28198 28203
14. Y.T. Wu, S.B. Wu, W.Y. Lee, and Y.H. Wei Mitochondrial respiratory dysfunction-elicited oxidative stress and posttranslational protein modification in mitochondrial diseases Ann. N. Y. Acad. Sci. 1201 2010 147 156
15. E. Marzetti, R. Calvani, M. Cesari, T.W. Buford, M. Lorenzi, B.J. Behnke, and C. Leeuwenburgh Mitochondrial dysfunction and sarcopenia of aging: from signaling pathways to clinical trials Int. J. Biochem. Cell Biol. 45 2013 2288 2301
16. A. Kasahara, and L. Scorrano Mitochondria: from cell death executioners to regulators of cell differentiation Trends Cell Biol. 24 2014 761 770
17. Y. Miyamoto, T. Torii, A. Tanoue, and J. Yamauchi Pelizaeus-Merzbacher disease-associated proteolipid protein 1 inhibits oligodendrocyte precursor cell differentiation via extracellular-signal regulated kinase signaling Biochem. Biophys. Res. Commun. 424 2012 262 268
18. S. Diekmann, M. Henneke, B.C. Burckhardt, and J. Gärtner Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin 47 function but also by a hemichannel dysfunction Eur. J. Hum. Genet. 18 2010 985 992
19. F. Zara, R. Biancheri, C. Bruno, L. Bordo, S. Assereto, E. Gazzerro, F. Sotgia, X.B. Wang, S. Gianotti, S. Stringara, M. Pedemonte, G. Uziel, A. Rossi, A. Schenone, P. Tortori-Donati, M.S. van der Knaap, M.P. Lisanti, and C. Minetti Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract Nat. Genet. 38 2006 1111 1113
20. Y. Miyamoto, T. Torii, T. Eguchi, K. Nakamura, A. Tanoue, and J. Yamauchi Hypomyelinating leukodystrophy-associated missense mutant of FAM126A/hyccin/DRCTNNB1A aggregates in the endoplasmic reticulum J. Clin. Neurosci. 21 2014 1033 1039
21. M. Feinstein, B. Markus, I. Noyman, H. Shalev, H. Flusser, I. Shelef, K. Liani-Leibson, Z. Shorer, I. Cohen, S. Khateeb, S. Sivan, and O.S. Birk Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation Am. J. Hum. Genet. 87 2010 820 828
22. C. Simons, L.B. Griffin, G. Helman, G. Golas, A. Pizzino, M. Bloom, J.L. Murphy, J. Crawford, S.H. Evans, S. Topper, M.T. Whitehead, J.M. Schreiber, K.A. Chapman, C. Tifft, K.B. Lu, H. Gamper, M. Shigematsu, R.J. Taft, A. Antonellis, Y.M. Hou, and A. Vanderver Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect Am. J. Hum. Genet. 96 2015 675 681
23. N.I. Wolf, G.S. Salomons, R.J. Rodenburg, P.J. Pouwels, J.H. Schieving, T.G. Derks, J.M. Fock, P. Rump, D.M. van Beek, M.S. van der Knaap, and Q. Waisfisz Mutations in RARS cause hypomyelination Ann. Neurol. 76 2014 134 139