Trinucleotide-repeat expansions and neurodegenerative disease: A mechanism of pathogenesis

Clinical and Experimental Pharmacology and Physiology

Volumn 23, Issue 12, 1996, Pages 1015-1020

  Hannan, Anthony J ^a,b  

^a CHILDREN'S MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

CAG repeat; Cell death; Excitotoxicity; Glutamate; Huntington's disease; Neurodegeneration; Receptors

Indexed keywords

GLUTAMATE RECEPTOR; TRINUCLEOTIDE;

CELL DEATH; DEGENERATIVE DISEASE; HUMAN; HUNTINGTON CHOREA; MUTATION; REVIEW;

EID: 0030468929     PISSN: 03051870     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1440-1681.1996.tb01161.x     Document Type: Review

References (48)

1. Warren ST, Ashley CT. Triplet repeat mutations: The example of fragile X syndrome. Annu. Rev. Neurosci. 1995; 18: 77-99.
2. Tsilfidis C, Mackenzie AE, Mettler G, Barcelo J, Korneluk RG. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nature Genet. 1992; 1: 192-5.
3. Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J. Cell Biol. 1995; 128: 995-1002.
4. Koide R, Ikeuchi T, Onodera O et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 1994; 6: 9-13.
5. Nagafuchi S, Yanagisawa H, Sato K et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 1994; 9: 14-18.
6. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993; 72: 971-83.
7. Kawaguchi Y, Okamoto T, Taniwaki M et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 1994; 8: 221-8.
8. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352: 77-9.
9. Orr HT, Chung M, Banfi S et al. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1. Nature Genet. 1993; 4: 221-6.
10. Richards RI, Sutherland GR. Simple repeat DNA is not replicated simply. Nature Genet. 1994; 6: 114-16.
11. Brooks BP, Fischbeck KH. Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci. 1995; 18: 459-61.
12. Kuhl DP, Caskey CT. Trinucleotide repeats and genome variation. Curr. Opin. Genet. Dev. 1993; 3: 404-7.
13. Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 1995; 81: 533-40.
14. Kuryavyi VV, Jovin TM. Triad-DNA: A model for trinucleotide repeats. Nature Genet. 1995; 9: 339-41.
15. Trottier Y, Devys D, Imbert G et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet. 1995; 10: 104-10.
16. Li X-J, Li S-H, Sharp AH et al. A huntingtin-associated protein enriched in brain with implications for pathology. Nature 1995; 378: 398-402.
17. Mahtre AN, Trifiro MA, Kaufman M et al. Reduced transcriptional regulatory competance of the androgen receptor in X-linked spinal and bulbar atrophy. Nature Genet. 1993; 5: 184-8.
18. Green H. Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism. Cell 1993; 74: 955-6.
19. Hannan AJ. Trinucleotide-repeat expansions and neurodegenerative diseases. Trends Neurosci. 1995; 18: 440.
20. Olney JW, Sharpe LG. Brain lesions in infant rhesus monkey treated with monosodium glutamate. Science 1969; 166: 386-8.
21. Choi DW, Maulucci-Gedde M, Kriegstein AR. Glutamate neurotoxicity in cortical cell culture. J. Neurosci. 1987; 7: 357-68.
22. Rothstein JD, Jin L, Dykes-Hoberg M, Kuncl RW. Chronic inhibition of glutamate uptake produces a model of slow neurotoxicity. Proc. Natl Acad. Sci. USA 1993; 90: 6591-5.
23. Bambrick LL, Yarowsky PJ, Krueger BK. Glutamate as a hippocampal neuron survival factor: An inherited defect in the trisomy 16 mouse. Proc. Natl Acad. Sci. USA 1995; 92: 9692-6.
24. Goldberg MP, Monyer H, Choi DW. Hypoxic neuronal injury in vitro depends on extracellular glutamine. Annu. Rev. Neurosci. 1988; 13: 171-82.
25. Mahy N, Bendahan G, Bjelke B, Tinner B, Olson L, Fuxe K. Differential brain area vulnerability to long-term subcortical excitotoxic lesions. Neuroscience 1995; 65: 15-25.
26. Beal MF, Kowall NW, Ellison DW, Mazurek MF, Schwartz KJ, Martin JB. Replication of the neurochemical characteristics of Huntington's disease by quinolinic acid. Nature 1986; 321: 168-71.
27. Young AB, Greenamyre JT, Hollingsworth Z et al. NMDA receptor losses in putamen from patients with Huntington's disease. Science 1988; 241: 981-3.
28. Perry TL, Hansen S. What excitotoxin kills striatal neurons in Huntington's disease? Clues from neurochemical studies. Neurology 1990; 40: 20-4.
29. Albin RL, Tagle DA. Genetics and molecular biology of Huntington's disease. Trends Neuroci. 1995; 18: 11-14.
30. n repeat causing Huntington's disease in 352 patients of German origin. Hum. Mol. Genet. 1993; 2: 1467-9.
31. Coyle JT, Puttfarcken P. Oxidative stress, glutamate and neurodegenerative disorders. Science 1993; 262: 689-95.
32. Lafon-Cazal M, Pietri S, Culcasi M, Bockaert J. NMDA-dependent superoxide production and neurotoxicity. Nature 1993; 364: 535-7.
33. Dumuis A, Sebben M, Haynes H, Pin JP, Bockaert J. NMDA receptors activate the arachidonic acid cascade system in striatal neurons Nature 1988; 336: 68-70.
34. Monyer H, Hartley DM, Choi DW. 21-Aminosteroids attenuate excitotoxic neuronal injury in cortical cell cultures. Neuron 1990; 5: 121-6.
35. Brown RH. Amyotrophic lateral sclerosis: Recent insights from genetics and transgenic mice. Cell 1995; 80: 687-92.
36. Pin J-P, Bockaert J. Get receptive to metabolic glutamate receptors. Curr. Opin. Neurobiol. 1995; 5: 342-9.
37. + pump as a site of action for carbon monoxide and glutamate: A mechanism for long-term modulation of cellular activity. Neuron 1995; 14: 781-94.
38. Choi DW. Ionic dependence of glutamate neurotoxicity. J. Neurosci. 1987; 7: 369-79.
39. 2+ stores: Activation and function. Trends Neurosci. 1995; 18: 299-306.
40. Ankarcrona M, Dypbukt JM, Bonfoco E et al. Glutamate-induced neuronal death: A succession of necrosis or apoptosis depending on mitochondrial function. Neuron 1995; 15: 961-73.
41. Jones C, Penny L, Mattina T et al. Association of a chromosome deletion syndrome with the fragile site within the proto-oncogene CBL2. Nature 1995; 376: 145-9.
42. Schalling M, Hudson TJ, Buetow KH, Housman DE. Direct detection of novel expanded trinucleotide repeats in the human genome. Nature Genet. 1993; 4: 135-9.
43. O'Donovan MC, Guy C, Craddock N et al. Expanded CAG repeats in schizophrenia and bipolar disorder. Nature Genet. 1995; 10: 380-1.
44. Crow TJ. Sexual selection, Machiavellian intelligence, and the origins of psychosis. Lancet 1993; 342: 594-8.
45. Wang S, Sun CS, Walczak CA, Ziegle JS, Kipps BR, Goldin LR, Diehl SR. Evidence for a susceptibility locus for schizophrenia on chromosome 6pter-p22, Nature Genet. 1995; 10: 41-6.
46. Straub RE, Lehner T, Luo Y et al. A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3. Nature Genet. 1994; 8: 291-6.
47. Trottier Y, Lutz Y, Stevanin G et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 1995; 378: 403-6.
48. Burright EN, Clark HB, Servadio A et al. SCA1 transgenic mice: A model of neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995; 82: 937-48.