Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot - Marie - Tooth type 2A

Human Molecular Genetics

Volumn 17, Issue 3, 2008, Pages 367-375

  Detmer, Scott A ^a   Velde, Christine Vande ^b   Cleveland, Don W ^b   Chan, David C ^a  

^a CALIFORNIA INSTITUTE OF TECHNOLOGY   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE; MITOCHONDRIAL ENZYME; MITOFUSIN 2;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AXONAL INJURY; CLINICAL FEATURE; EMBRYO; GAIT DISORDER; GASTROCNEMIUS MUSCLE; GENE EXPRESSION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HINDLIMB; MITOCHONDRION; MOTONEURON; MOTOR NERVE; MOUSE; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE ROOT; NEWBORN; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; TRANSGENIC MOUSE; WALKING;

ANIMALS; AXONS; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; DNA PRIMERS; GREEN FLUORESCENT PROTEINS; HINDLIMB; HOMOZYGOTE; HUMANS; LAMENESS, ANIMAL; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MOTOR NEURONS; MUTAGENESIS, SITE-DIRECTED; PHENOTYPE; RECOMBINANT FUSION PROTEINS;

ANIMALIA; MAMMALIA; MUS MUSCULUS; SOLEIDAE;

EID: 38349185051     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm314     Document Type: Article

References (28)

1. Young, P. and Suter, U. (2003) The causes of Charcot - Marie - Tooth disease. Cell. Mol. Life Sci., 60, 2547-2560.
2. Zuchner, S. and Vance, J.M. (2006) Mechanisms of disease: A molecular genetic update on hereditiry axonal neuropathies. Nat. Clin. Pract. Neurol., 2, 45-53.
3. Zuchner, S., Mersiyanova, I.V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E.L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J. et al. (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot - Marie - Tooth neuropathy type 2A. Nat. Genet., 36, 449-451.
4. Griffin E.E., Detmer, S.A. and Chan, D.C. (2006) Molecular mechanism of mitochondrial membrane fusion. Biochim. Biophys. Acta, 1763, 482-489.
5. Chan, D.C. (2006) Mitochondrial fusion and fission in mammals. Annu. Rev. Cell Dev. Biol., 22, 79-99.
6. Okamoto, K. and Shaw, J.M. (2005) Mitochondrial morphology and dynamics in yeast and multicellular eukaryotes. Annu. Rev. Genet., 39 503-536.
7. Chung, K.W., Kim, S.B., Park K.D., Choi, K.G., Lee, J.H., Eun, H.W., Suh, J.S., Hwang, J.H., Kim, W.K., Seo, B.C. et al. (2006) Early onset severe and late-onset mild Charcot - Marie - Tooth disease with mitofusin 2 (MFN2) mutations. Brain, 129, 2103-2118.
8. Engelfried, K, Vorgerd, M., Hagedorn, M., Haas, G., Gilles, J., Epplen, J.T. and Meins, M. (2006) Charcot - Marie - Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). BMC Med. Genet., 7, 53.
9. Kijima, K., Numakura, C., Izumino, H., Umetsu, K., Nezu, A., Shiiki, T., Ogawa, M., Ishizaki, Y., Kitamura, T., Shozawa, Y. et al. (2005) Mitochondrial GTPase mitofusin 2 mutation in Charcot - Marie - Tooth neuropathy type 2A. Hum Genet., 116, 23-27.
10. Lawson, V.H., Graham, B.V. and Flanigan, K.M. (2005) Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology, 65, 197-204.
11. Verhoeven, K., Claeys, K.G., Zuchner, S., Schroder, J.M., Weis, J., Ceuterick, C., Jordanova, A., Nelis, E., De Vriendt, E., Van Hul, M. et al. (2006) MFN2 mutation distribution and genotype/phenotype correlation in Charcot - Marie - Tooth type 2. Brain, 129, 2093-2102.
12. Zuchner, S., De Jonghe, P., Jordanova, A., Claeys, YG., Guergueltcheva, V., Cherninkova, S, Hamilton, S.R., Van Stavem, G., Krajewski, K.M., Stajich, J. et al. (2006) Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol., 59, 276-281.
13. Detmer, S.A. and Chan, D.C. (2007) Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. J. Cell Biol., 176, 405-414.
14. Baloh, R.H., Schmidt, R.E., Pestronk, A. and Milbrandt, J. (2007) Altered axonal mitochondrial transport in the pathogenesis of Charcot - Marie - Tooth disease from mitofusin 2 mutations. J. Neurosci., 27, 422-430.
15. Misgeld, T., Karschensteiner, M., Bareyre, F.M., Burgess, R.W. and Lichtman, J.W. (2007) Imaging axonal transport of mitochondria in vivo. Nat. Methods, 4, 559-561.
16. Stowers, R.S., Megeath, L.J., Gorska-Andrzejak J.; Meinertzhagen, I.A. and Schwarz, T.L. (2002) Axonal transport of mitochondria to synapses depends on milton, a novel Drosophila protein. Neuron, 36, 1063-1077.
17. Guo, X., Macleod, G.T., Wellington, A., Hu, F, Panchumarthi, S., Schoenfield, M., Marin, L., Charlton, M.P., Atwood, H.L. and Zinsmaier, K.E. (2005) The GTPase dMiro is required for axonal transport of mitochondria to Drosophila synapses. Neuron, 47, 379-393.
18. Verstreken, P., Ly, C.V., Venken, K.J., Koh, T.W., Zhou, Y. and Bellen, H.J. (2005) Synaptic mitochondria are critical for mobilization of reserve pool vesicles at Drosophila neuromuscular junctions. Neuron 47, 365-378.
19. Bourne, H.R., Sanders, D.A. and McCormick, F. (1991) The GTPaSe superfamily: Conserved structure and molecular mechanism. Nature, 349, 117-127.
20. Wichterle, H., Lieberam, I., Porter, J.A. and Jessell, T.M. (2002) Directed differentiation of embryonic stem cells into motor neurons. Cell, 110, 385-397.
21. Arber, S., Han, B., Mendelsohn, M., Smith, M., Jessell, T.M. and Sockanathan, S. (1999) Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity. Neuron, 23, 659-674.
22. Thaler, J., Harrison, K., Sharma, K., Lettieri, K., Kehrl, J. and Pfaff, S.L. (1999) Active suppression of interneuron programs within developing motor neurons revealed by analysis of homeodomain factor HB9. Neuron 23, 675-687.
23. Hsieh-Li, H.M., Chang, J.G., Jong, Y.J., Wu, M.H., Wang, N.M., Tsai, C.H. and Li, H. (2000) A mouse model for spinal muscular atrophy. Nat Genet, 24, 66-70.
24. Chen, H., McCaffery, J.M. and Chan, D.C. (2007) Mitochondrial fusion protects against neurodegeneration in the cerebellum. Cell, 130 548-562.
25. Chang, D.T., Honick, A.S. and Reynolds, I.J. (2006) Mitochondrial trafficking to synapses in cultured primary cortical neurons. J. Neurosci., 26, 7035-7045.
26. Li, Z., Okamoto, K., Hayashi, Y. and Sheng, M. (2004) The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses. Cell, 119, 873-887.
27. Li, J., Shen, H., Himmel, K.L., Dupuy, A.J., Largaespada, D.A., Nakamura, T., Shaughnessy, J.D., Jr, Jenkins, N.A. and Copeland, N.G. (1999) Leukaemia disease genes: Large-scale cloning and pathway predictions. Nat. Genet., 23, 348-353.
28. Yamanaka, K., Miller, T.M., McAlonis-Downes, M., Chun, S.J. and Cleveland, D.W. (2006) Progressive spinal axonal degeneration and slowness in ALS2-deficient mice. Ann Neurol., 60, 95-104.