Mice with the deleted neurofilament of low-molecular-weight (Nefl) gene: 1. Effects on regional brain metabolism

Journal of Neuroscience Research

Volumn 80, Issue 6, 2005, Pages 741-750

  Dubois, M ^a   Lalonde, R ^b,c   Julien, J P ^d,f   Strazielle, C ^e  

^a UNIVERSITÉ DE ROUEN   (France)

^b UNIVERSITÉ DE ROUEN   (France)

^c CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^d MONTREAL GENERAL HOSPITAL   (Canada)

^e INSERM   (France)

^f LAVAL UNIVERSITY   (Canada)

Author keywords

Amyotrophic lateral sclerosis; Knockout mice; Neurofilaments; NFL subunit; Regional brain metabolism

Indexed keywords

CYTOCHROME C OXIDASE; NEUROFILAMENT PROTEIN; PROTEIN NEFL; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN METABOLISM; BRAIN STEM; CEREBELLUM; CONTROLLED STUDY; CRANIAL NERVE; ENZYME ACTIVITY; FEMALE; GENE DELETION; HYPOTROPHY; MALE; MOLECULAR WEIGHT; MOTONEURON; MOUSE; NERVE FIBER; NEUROFILAMENT; NONHUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PURKINJE CELL; RED NUCLEUS; RETICULAR FORMATION; RHOMBENCEPHALON; VESTIBULAR NUCLEUS;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; BRAIN; DISEASE MODELS, ANIMAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; IMMUNOHISTOCHEMISTRY; MALE; MICE; MICE, KNOCKOUT; NEUROFILAMENT PROTEINS;

EID: 21844473288     PISSN: 03604012     EISSN: None     Source Type: Journal    
DOI: 10.1002/jnr.20449     Document Type: Article

References (67)

1. Al-Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw C, Powell JF, Leigh PN. 1999. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum Mol Genet 8:157-164.
2. Andreadou E, Sgouropoulos P, Varelas P, Gouliamos A, Papageorgiou C. 1998. Subcortical frontal lesions on MRI in patients with motor neurone disease. Neuroradiology 40:298-302.
3. Beaulieu JM, Jacomy H, Julien JP. 2000. Formation of intermediate filament protein aggregates with disparate effects in two transgenic mouse models lacking the neurofilament light subunit. J Neurosci 20:5321-5328.
4. Bellintani-Guardia B, Schweizer M, Herbert H. 1996. Analysis of projections from the cochlear nucleus to the lateral paragigantocellular reticular nucleus in the rat. Cell Tissue Res 283:493-505.
5. Bergeron C, Beric-Maskarel K, Muntasser S, Weyer L, Somerville MJ, Percy ME. 1994. Neurofilament light and polyadenylated mRNA levels are decreased in amyotrophic lateral sclerosis motor neurons. J Neuropathol Exp Neurol 53:221-230.
6. Brodal A. 1967. Anatomical studies of cerebellar fibre connections with special reference to problems of functional localization. In: Fox CA, Snider RS, editors. The cerebellum: progress in brain research, vol 25. New York: Elsevier, p 135-173.
7. Browne SE, Bowling AC, Baik MJ, Gurney M, Brown RH Jr, Beal MF. 1998. Metabolic dysfunction in familial, but not sporadic, amyotrophic lateral sclerosis. J Neurochem 71:281-287.
8. Carpenter S. 1968. Proximal axonal enlargement in motor neuron disease. Neurology 18:841-851.
9. Collard JF, Côté F, Julien JP. 1995. Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature 375:61-64.
10. Côté F, Collard JF, Julien JP. 1993. Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 73:35-46.
11. Daniel H, Billard JM, Angaut P, Batini C. 1987. The interposito- rubrospinal system. Anatomical tracing of a motor control pathway in the rat. Neurosci Res 5:87-112.
12. De Camilli P, Miller PE, Levitt P, Walter U, Greengard P. 1984. Anatomy of cerebellar Purkinje cells in the rat determined by a specific immunohistochemical marker. Neuroscience 11:761-817.
13. Deiss V, Strazielle C, Lalonde R. 2000. Regional brain variations of cytochrome oxidase activity and motor co-ordination in staggerer mutant mice. Neuroscience 95:903-911.
14. DePaul R, Abbs JH, Caligiuri M, Gracco VL, Brooks BR. 1988. Hypoglossal, trigeminal, and facial motoneuron involvement in amyotrophic lateral sclerosis. Neurology 38:281-283.
15. Dubois M, Strazielle C, Julien JP, Lalonde R. 2005. Mice with the deleted neurofilament of low molecular weight (Nefl) gene: 2. Effects on motor functions and spatial orientation. J Neurosci Res 80:751-758.
16. Eyer J, Peterson A. 1994. Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta- galactosidase fusion protein. Neuron 12:389-405.
17. Ferrante RJ, Browne SE, Shinobu LA, Bowling AC, Baik MJ, MacGarvey U, Kowall NW, Brown RH Jr, Beal MF. 1997. Evidence of increased oxidative damage in both sporadic and familial amyotrophic lateral sclerosis. J Neurochem 69:2064-2074.
18. Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP. 1994. Variants of the heavy neurofilament subunit are associ-ated with the development of amyotrophic lateral sclerosis. Hum Mol Genet 3:1757-1761.
19. Franklin KJB, Paxinos G. 1997. The mouse brain in stereotaxic coordinates. New York: Academic Press.
20. Friede RL, Samorajski T. 1970. Axon caliber related to neurofilaments and microtubules in sciatic nerve fibers of rats and mice. Anat Rec 167:379-387.
21. Gonzalez-Lima F, Jones D. 1994. Quantitative mapping of cytochrome oxidase activity in the central auditory system of the gerbil: a study with cali-brated activity standards and metal-intensified histochemistry. Brain Res 660:34-39.
22. Grottel K, Jakielska-Bukowska D. 1993. The reticulovestibular projection in the rabbit: an experimental study with the retrograde horseradish peroxi-dase method. Neurosci Res 18:179-193.
23. Hess HH, Pope A. 1953. Ultramicrospectrophotometric determination of cytochrome oxidase for quantitative histochemistry. J Biol Chem 204:295-306.
24. Hirokawa N, Glicksman MA, Willard MB. 1984. Organization of mammalian neurofilament polypeptides within the neuronal cytoskeleton. J Cell Biol 98:1523-1536.
25. Hoffman PN, Lasek RJ. 1975. The slow component of axonal transport. Identification of major structural polypeptides of the axon and their generality among mammalian neurons. J Cell Biol 66:351-366.
26. Hoffman PN, Cleveland DW, Griffin JW, Landes PW, Cowan NJ, Price DL. 1987. Neurofilament gene expression: a major determinant of axonal caliber. Proc Natl Acad Sci U S A 84:3472-3476.
27. Ito M. 1984. The cerebellum and neural control. New York: Raven Press.
28. Ito M, Yoshida M, Obata K. 1964. Monosynaptic inhibition of the intracerebellar nuclei induced from the cerebellar cortex. Experientia 20:575-576.
29. Kawamura Y, Dyck PJ, Shimono M, Okasaki H, Tateishi J, Doi H. 1981. Morphometric comparison of the vulnerability of peripheral motor and sensory neurons in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 40:667-675.
30. Kokubo Y, Kuzuhara S, Narita Y, Kikugawa K, Nakano R, Inuzuka T, Tsuji S, Watanabe M, Miyazaki T, Murayama S, Ihara Y. 1999. Accumulation of neurofilaments and SOD1-immunoreactive products in a patient with familial amyotrophic lateral sclerosis with I113T SOD1 mutation. Arch Neurol 56:1506-1508.
31. Kriz J, Zhu Q, Julien JP, Padjen AL. 2000. Electrophysiological properties of axons in mice knock-out for neurofilament genes: disparity between conduction velocity and axon diameter in absence of NF-H. Brain Res 885:32-44.
32. Kure R, Brown IR. 1995. Expression of low-molecular-weight neurofilament (NF-L) mRNA during postnatal development of the mouse brain. Neurochem Res 20:833-846.
33. Lee MK, Xu Z, Wong PC, Cleveland DW. 1993. Neurofilaments are obligate heteropolymers in vivo. J Cell Biol 122:1337-1350.
34. Lee MK, Marszalek JR, Cleveland DW. 1994. A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 13:975-988.
35. Leterrier JF, Rusakov DA, Nelson BD, Linden M. 1994. Interactions between brain mitochondria and cytoskeleton: evidence for specialized outer membrane domains involved in the association of cytoskeleton-associated proteins to mitochondria in situ and in vitro. Microsc Res Techniq 27:233-261.
36. Ma D, Descarries L, Julien JP, Doucet G. 1995. Abnormal perikaryal accumulation of neurofilament light protein in the brain of mice transgenic for the human protein: sequence of postnatal development. Neuroscience 68:135-149.
37. Milner DJ, Mavroidis M, Weisleder N, Capetanaki Y. 2000. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol 150:1283-1298.
38. Munoz DG, Greene C, Perl DP, Selkoe DJ. 1988. Accumulation of phosphorylated neurofilaments in anterior horn motoneurons of amyotrophic lateral sclerosis patients. J Neuropathol Exp Neurol 47:9-18.
39. Newman DB, Ginsberg CY. 1992. Brainstem reticular nuclei that project to the cerebellum in rats: a retrograde tracer. Brain Behav Evol 39:24-68.
40. Nguyen MD, Larivière R, Julien J-P. 2001 Deregulation of Cdk5 in a mouse model of ALS: toxicity alleviated by perikaryal neurofilament inclusions. Neuron 30:135-147.
41. Ohtake T. 1992. Ascending projections from the gigantocellular reticular and dorsal paragigantocellular nuclei of the medulla oblongata in the rat: an anterograde PHA-L tracing study. Neurosci Res 14:96-116.
42. Payne JN. 1987. Cerebellar afferents from the lateral reticular nucleus in the rat. Neuroscience 23:211-221.
43. Plummer J, Peterson A, Messer A. 1995. Accelerated and widespread neuronal loss occurs in motor neuron degeneration (mnd) mice expressing a neurofilament-disrupting transgene. Mol Cell Neurosci 6:532-543.
44. Rao MV, Houseweart MK, Williamson TL, Crawford TO, Folmer J, Cleveland DW 1998. Neurofilament-dependent radial growth of motor axons and axonal organization of neurofilaments does not require the neurofilament heavy subunit (NF-H) or its phosphorylation. J Cell Biol 143:171-181.
45. Rouleau GA, Clark AW, Rooke K, Pranatarowa A, Krizus A, Suchowevsky O, Julien JP, Figlewicz D. 1996. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Ann Neurol 39:128-131.
46. Sakaguchi T, Okada M, Kitamura T, Kawasaki K. 1993. Reduced diameter and conduction velocity of myelinated fibers in the sciatic nerve of a neurofilament-deficient mutant quail. Neurosci Lett 153:65-68.
47. Shammah-Lagnado SJ, Negrao N, Suva BA, Ricardo JA. 1987. Afferent connections of the nuclei reticularis pontis oralis and caudalis: a horseradish peroxidase study in the rat. Neuroscience 20:961-989.
48. Sheykholeslami K, Kaga K, Mizutani M. 2001. Auditory nerve fiber differences in the normal and neurofilament deficient Japanese quail. Hear Res 159:117-124.
49. Sobue G, Hashizume Y, Mitsuma T, Takahashi A. 1987. Size-dependent myelinated fiber loss in the corticospinal tract in Shy-Drager syndrome and amyotrophic lateral sclerosis. Neurology 37:529-532.
50. Steinbusch HWM, Nieuwenhuys R. 1983. The raphe nuclei of the rat brainstem. A cytoarchitectonic and immunohistochemical stud. In: Emson PC, editor. Chemical neuroanatomy. New York: Raven Press. p 131-207.
51. Strazielle C, Krémarik P, Ghersi-Egea JF, Lalonde R. 1998. Regional brain variations of cytochrome oxidase activity and motor coordination in Lurcher mutant mice. Exp Brain Res 121:35-15.
52. Strazielle C, Dubois M, Eyer J, Lalonde R. 2002. NFH-LacZ transgenic mice: regional brain activity of cytochrome oxidase. Exp Neurol 177:521-530.
53. Tabuchi T, Umetani T, Yamadori T. 1989. Corticonuclear and corticovestibular projections from the uvula in the albino rat: differential projections from sublobuli of the uvula. Brain Res 492:176-186.
54. Takahashi H, Oyanagi K, Ikuta F, Tanaka M, Yuasa T, Miyatake T. 1993. Widespread multiple system degeneration in a patient with familial amyotrophic lateral sclerosis. J Neurol Sci 120:15-21.
55. Tomkins J, Usher P, Slade JY, Ince PG, Curtis A, Bushby K, Shaw PJ. 1998. Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). Neuroreport 9:3967-3970.
56. Tu PH, Robinson KA, de Snoo F, Eyer J, Peterson A, Lee VM, Trojanowski QJ. 1997. Selective degeneration of Purkinje cells with Lewy body-like inclusions in aged NFHLACZ transgenic mice. J Neurosci 17:1064-1074.
57. Vickers JC, Morrison JH, Friedrich VL Jr, Elder GA, Perl DP, Katz RN, Lazzarini RA. 1994. Age-associated and cell-type-specific neurofibrillary pathology in transgenic mice expressing the human midsized neurofilament subunit. J Neurosci 14:5603-5612.
58. Wang XF, Woody CD, Chizhevsky V, Gruen E, Landeira-Fernandez J. 1991. The dentate nucleus is a short-latency relay of a primary auditory transmission pathway. Neuroreport 2:361-364.
59. Williamson TL, Bruijn LI, Zhu Q, Anderson KL, Anderson SD, Julien JP, Cleveland DW 1998. Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant. Proc Natl Acad Sci U S A 95:9631-9636.
60. Wong NK, He BP, Strong MJ. 2000. Characterization of neuronal intermediate filament protein expression in cervical spinal motor neurons in sporadic amyotrophic lateral sclerosis (ALS). J Neuropathol Exp Neurol 59:972-982.
61. Wong-Riley MT. 1979. Changes in the visual system of monocularly sutured or enucleated cats demonstrable with cytochrome oxidase histochemistry. Brain Res 171:11-28.
62. Wong-Riley MT. 1989. Cytochrome oxidase: an endogenous metabolic marker for neuronal activity. Trends Neurosci 12:94-101.
63. Xiong G, Matsushita M. 2000. Connections of Purkinje cell axons of lobule X with vestibulospinal neurons projecting to the cervical cord in the rat. Exp Brain Res 131:491-499.
64. Xu Z, Cork LC, Griffin JW, Cleveland DW 1993. Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease. Cell 73:23-33.
65. Yamasaki H, Itakura C, Mizutani M. 1991. Hereditary hypotrophic axonopathy with neurofilament deficiency in a mutant strain of the Japanese quail. Acta Neuropathol 82:427-434.
66. Zhang C, Wong-Riley MTT. 1999. Expression and regulation of NMDA receptor subunit R1 and neuronal nitric oxide synthase in cortical neuronal cultures: correlation with cytochrome oxidase. J Neurocytol 28:525-539.
67. Zhu Q, Couillard-Despres S, Julien JP. 1997. Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol 148:299-316.