Transgenic and gene-targeting approaches to model disorders of motor neurons

Seminars in Neuroscience

Volumn 8, Issue 3, 1996, Pages 163-169

  Wong, Philip C ^a,b   Borchelt, David R ^a,b   Lee, Michael K ^a,b   Pardo, Carlos A ^a,b   Sisodia, Sangram S ^a,b   Cleveland, Don W ^c   Koliatsos, Vassilis E ^a,b   Price, Donald L ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LUDWIG INSTITUTE FOR CANCER RESEARCH   (United States)

^c NONE

Author keywords

Amyotrophic lateral sclerosis; Axonal spheroids; Neurofilaments; Receptors; Superoxide dismutase 1; Trophic factors

Indexed keywords

SUPEROXIDE DISMUTASE;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL DEATH; CELL INCLUSION; CYTOSKELETON; GENE MUTATION; GENE TARGETING; HYPERREFLEXIA; MOTOR NEURON DISEASE; MOUSE; MUSCLE ATROPHY; MUSCLE WEAKNESS; NEUROFILAMENT; NONHUMAN; PHENOTYPE; SPASTICITY; SPINAL MUSCULAR ATROPHY; TRANSGENIC MOUSE;

EID: 0030008692     PISSN: 10445765     EISSN: None     Source Type: Journal    
DOI: 10.1006/smns.1996.0021     Document Type: Article

References (56)

1. Kuncl RW, Crawford TO, Rothstein JD, Drachman DB (1992) Motor neuron diseases, in Diseases of the Nervous System (Asbury AK, McKhann GM, McDonald WI, eds.) 2nd edn, pp 1179-1208. W.B. Saunders, Philadelphia
2. Williams DB, Windebank AJ (1993) Motor neuron disease, in Peripheral Neuropathy (Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds.) Third edn, pp 1028-1050. W.B. Saunders, Philadelphia
3. La Spada AR, Paulson HL, Fischbeck KH (1994) Trinucleotide repeat expansion in neurological disease. Ann Neurol 36:814-822
4. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frézal J, Cohen D, Weissenbach J, Munnich A, Melki J (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155-165
5. Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, Besner-Johnston A, Lefebvre C, Kang X, Salih M, Aubry H, Tamai K, Guan X, Ioannou P, Crawford TO, de Jong PJ, Surh L, Ikeda J-E, Korneluk RG, MacKenzie A (1995) The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167-178
6. Oppenheimer DR, Esiri MM (1992) Diseases of the basal ganglia, cerebellum and motor neurons, in Greenfield's Neuropathology (Adams JH, Duchen LW, eds). 5 edn, pp 988-1045. Oxford University Press, New York
7. Carpenter S (1968) Proximal axonal enlargement in motor neuron disease. Neurology 18:841-851
8. Hirano A, Donnenfeld H, Sasaki S, Nakano I (1984) Fine structural observations of neurofilamentous changes in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 43:461-470
9. Schmidt ML, Carden MJ, Lee VM-Y, Trojanowski JQ (1987) Phosphate dependent and independent neurofilament epitopes in the axonal swellings of patients with motor neuron disease and controls. Lab Invest 56:282-294
10. Hirano A (1991) Cytopathology of amyotrophic lateral sclerosis, in Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases (Rowland LP, ed.) pp 91-101. Raven Press, New York
11. Chou SM (1992) Pathology-light microscopy of amyotrophic lateral sclerosis, in Handbook of Amyotrophic Lateral Sclerosis. (Smith RA, ed.) pp 133-181. Marcel Dekker, New York
12. Gonatas NK, Stieber A, Mourelatos Z, Chen Y, Gonatas JO, Appel SH, Hays AP, Hickey WF, Hauw J-J (1992) Fragmentation of the Golgi apparatus of motor neurons in amyotrophic lateral sclerosis. Am J Pathol 140:731-737
13. Hirano A, Kato S (1992) Fine structural study of sporadic and familial amyotrophic lateral sclerosis, in Handbook of Amyotrophic Lateral Sclerosis (Smith RA, ed.), pp 183-192. Marcel Dekker, New York
14. Leigh PN (1994) Pathogenic mechanisms in amyotrophic lateral sclerosis and other motor neuron disorders, in Neurodegenerative Diseases (Calne DB, ed.) pp 473-488. W.B. Saunders, Philadelphia
15. Delisle MB, Carpenter S (1984) Neurofibrillary axonal swellings and amyotrophic lateral sclerosis. J Neurol Sci 63:241-250
16. Tandan R, Bradley WG (1985) Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management. Ann Neurol 18:271-280
17. Manetto V, Sternberger NH, Perry G, Sternberger LA, Gambetti P (1988) Phosphorylation of neurofilaments is altered in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 47:642-653
18. 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
19. Lowe J, Mayer RJ, Landon M (1993) Ubiquitin in neurodegenerative diseases. Brain Pathol 3:55-65
20. Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, Sapp P, Hung W-Y, Bebout J, McKenna-Yasek D, Deng G, Horvitz HB, Gusella JF, Brown RH Jr, Roses AD, Roos RP, Williams DB, Mulder DW, Watkins PC, Noore R, Nicholson G, Reed R, Brooks BR, Festoff B, Antel JP, Tandan R, Munsat TL, Laing NG, Halperin JJ, Norris FH, Van den Bergh R, Swerts L, Tanzi RE, Jubelt B, Mathews KD, Bosch EP (1991) Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 324:1381-1384
21. Deng H-X, Hentati A, Tainer JA, Iqbal Z, Cayabyab A, Hung W-Y, Getzoff ED, Hu P, Herzfeldt B, Roos RP, Warner C, Deng G, Soriano E, Smyth C, Parge HE, Ahmed A, Roses AD, Hallewell RA, Pericak-Vance MA, Siddique T (1993) Amyotrophic lateral sclerosis and structural defects in Cu, Zn superoxide dismutase. Science 261:1047-1051
22. Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng H-X, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Van den Bergh R, Hung W-Y, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR, Brown Jr RH (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59-62
23. Andersen PM, Nilsson P, Ala-Hurula V, Keränen M-L, Tarvainen I, Haltia T, Nilsson L, Binzer M, Forsgren L, Marklund SL (1995) Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nature Genet 10:61-66
24. Brown Jr RH (1995) Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice. Cell 80:687-692
25. Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4:631-634
26. Bowling AC, Schulz JB, Brown Jr RH, Beal MF (1993) Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 61:2322-2325
27. Robberecht W, Sapp P, Viaene MK, Rosen D, McKenna-Yasek D, Haines J, Horvitz R, Theys P, Brown Jr R (1994) Cu/Zn superoxide dismutase activity in familial and sporadic amyotrophic lateral sclerosis. J Neurochem 62:384-387
28. Borchelt DR, Lee MK, Slunt HH, Guarnieri M, Xu Z-S, Wong PC, Brown Jr RH, Price DL, Sisodia SS, Cleveland DW (1994) Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity. Proc Natl Acad Sci USA 91:8292-8296
29. Gurney ME, Pu H, Chiu AY, Dal Canto MC, Polchow CY, Alexander DD, Caliendo J, Hentati A, Kwon YW, Deng H-X, Chen W, Zhai P, Sufit RL, Siddique T (1994) Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 264:1772-1775
30. Ripps ME, Huntley GW, Hof PR, Morrison JH, Gordon JW (1995) Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 92:689-693
31. Wong PC, Pardo CA, Borchelt DR, Lee MK, Copeland NG, Jenkins NA, Sisodia SS, Cleveland DW, Price DL (1995) An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14:1105-1116
32. Dal Canto MC, Gurney ME (1994) The development of central nervous system pathology in a murine transgenic model of human amyotrophic lateral sclerosis. Am J Pathol 145:1-9
33. Hoffman PN, Thompson GW, Griffin JW, Price DL (1985) Changes in neurofilament transport coincide temporally with alterations in the caliberof axons in regenerating motor fibers. J Cell Biol 101:1332-1340
34. 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 USA 84:3472-3476
35. Eyer J, Peterson A (1994) Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-β-galactosidase fusion protein. Neuron 12:389-405
36. Clark AW, Parhad IM, Griffin JW, Price DL (1984) Neurofilamentous axonal swellings as a normal finding in the spinal anterior horn of man and other primates. J Neuropathol Exp Neurol 43:253-262
37. Griffin JW, Hoffman PN, Clark AW, Carroll PT, Price DL (1978) Slow axonal transport of neurofilament proteins: impairment by β,β′-iminodipropionitrile administration. Science 202:633-635
38. Clark AW, Griffin JW, Price DL (1980) The axonal pathology in chronic IDPN intoxication. J Neuropathol Exp Neurol 39:42-55
39. Cork LC, Griffin JW, Choy C, Padula CA, Price DL (1982) Pathology of motor neurons in accelerated hereditary canine spinal muscular atrophy. Lab Invest 46:89-99
40. Troncoso JC, Hoffman PN, Griffin JW, Hess-Kozlow KM, Price DL (1985) Aluminum intoxication: a disorder of neurofilament transport in motor neurons. Brain Res 342:172-175
41. Cork LC, Struble RG, Gold BG, DiCarlo C, Fahnestock KE, Griffin JW, Price DL (1989) Changes in size of motor axons in hereditary canine spinal muscular atrophy. Lab Invest 61:333-342
42. Muma NA, Cork LC (1993) Alterations in neurofilament mRNA in hereditary canine spinal muscular atrophy. Lab Invest 69:436-442
43. 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
44. Côté F, Collard J-F, Julien J-P (1993) Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: a mouse model of amyotrophic lateral sclerosis. Cell 73:35-46
45. Collard J-F, Côté F, Julien J-P (1995) Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis. Nature 375:61-64
46. 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
47. Klein R, Smeyne RJ, Wurst W, Long LK, Auerbach BA, Joyner AL, Barbacid M (1993) Targeted disruption of the trkB neurotrophin receptor gene results in nervous system lesions and neonatal death. Cell 75:113-122
48. Masu Y, Wolf E, Holtmann B, Sendtner M, Brem G, Thoenen H (1993) Disruption of the CNTF gene results in motor neuron degeneration. Nature 365:27-32
49. Davies AM (1994) Tracking neurotrophin function. Nature 368:193-194
50. Jones KR, Fariñas I, Backus C, Reichardt LF (1994) Targeted disruption of the BDNF gene perturbs brain and sensory neuron development but not motor neuron development. Cell 76:989-999
51. Snider WD (1994) Functions of the neurotrophins during nervous system development: what the knockouts are teaching us. Cell 77:627-638
52. Li M, Sendtner M, Smith A (1995) Essential function of LIF receptor in motor neurons. Nature 378:724-727
53. Ernfors P, Lee KF, Jaenisch R (1994) Mice lacking brain-derived neurotrophic factor develop with sensory deficits. Nature 368:147-150
54. Conover JC, Erickson JT, Katz DM, Bianchi LM, Poueymirou WT, McClain J, Pan L, Helgren M, Ip NY, Boland P, Friedman B, Wiegand S, Vejsada R, Kato AC, DeChiara TM, Yancopoulos GD (1995) Neuronal deficits, not involving motor neurons, in mice lacking BDNF and/or NT4. Nature 375:235-238
55. Takahashi R, Yokoji H, Misawa H, Hayashi M, Hu J, Deguchi T (1994) A null mutation in the human CNTF gene is not causally related to neurological diseases. Nature Genet 7:79-84
56. DeChiara TM, Vejsada R, Poueymirou WT, Acheson A, Suri C, Conover JC, Friedman B, McClain J, Pan L, Stahl N, Ip NY, Kato A, Yancopoulos GD (1995) Mice lacking the CNTF receptor, unlike mice lacking CNTF, exhibit profound motor neuron deficits at birth. Cell 83:313-322