Etiology of (CAG)(n) triplet repeat neurodegenerative diseases such as Huntington's disease is connected to stimulation of glutamate receptors

Medical Hypotheses

Volumn 48, Issue 5, 1997, Pages 393-398

  Fischer, K M ^a  

^a NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BENZODIAZEPINE DERIVATIVE; CARBAMAZEPINE; CLOBAZAM; CLONAZEPAM; CYTOSINE; GLUTAMATE RECEPTOR; GLUTAMIC ACID; GLUTAMINE; GUANINE; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; PHENYTOIN; REPETITIVE DNA; VALPROIC ACID;

ARTICLE; AUTOIMMUNITY; DEGENERATIVE DISEASE; EPILEPSY; HUMAN; HUNTINGTON CHOREA; HYPOTHESIS; PRIORITY JOURNAL; STROKE;

EID: 0030614286     PISSN: 03069877     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0306-9877(97)90034-7     Document Type: Article

References (66)

1. Warren S T, Nelson D L. Trinucleotide repeat expansions in neurological disease. Curr Opin Neurobiol 1993; 3: 752-759.
2. Smothers J F, Von Dohlen C D, Smith L H Jr, Spall R D. Molecular evidence that the myxozoan protists are metazoans. Sci 1994; 265: 1719-1721.
3. La Spada A R, Paulson H L, Fischbeck K H. Trinucleotide repeat expansion in neurological disease. Ann Neurol 1994; 36: 814-822.
4. Joutel A, Bousser M-G, Biousse V et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nat Genet 1993; 5: 40-45.
5. Ranum L P W, Schut L J, Lundgren J K, Orr H T, Livingston D M. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994; 8: 280-284.
6. Subramony S H. Degenerative ataxias. Curr Opin Neurol 1994; 7: 316-322.
7. Humphries P, Kenna P, Farrar G J. New dimensions in macular dystrophies. Nat Genet 1994; 8: 315-317.
8. Currier R D, Collins G M, Subramony S H, Haerer A F. Treatment of hereditary ataxia with the levorotatory form of hydroxytryptophan. Arch Neurol 1995; 52: 440-441.
9. Willems P J. Dynamic mutations hit double figures. Nat Genet 1994; 8: 213-215.
10. Chung M-Y, Ranum L P W, Duvick L A, Servadio A, Zoghbi H Y, Orr H T. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat Genet 1993; 5: 254-258.
11. Kang S, Jaworski A, Ohshima K, Wells R D. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli, Nat Genet 1995; 10: 213-218.
12. Yu C-E, Oshima J, Fu Y-H et al. Positional cloning of the Werner's syndrome gene. Sci 1996; 272: 258-262.
13. Lin W-C, Desiderio S. Regulation of V(D)J recombination activator protein RAG-2 by phosphorylation. Sci 1993; 260: 953.
14. Pennisi E. Premature aging gene discovered. Sci 1996; 272: 193-194.
15. Fischer K. The genes for Prader Willi syndrome/Angelman syndrome and fragile X syndrome are homologous, with genetic imprinting and unstable trinucleotide repeats causing mental retardation, autism and aggression. Med Hypotheses 1996; 47: 289-298.
16. n nucleotide repeats form a stable tetrahelical structure. Proc Natl Acad Sci USA 1994; 91: 4950-4954.
17. Brook J D, McCurrach M E, Harley H G et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799-808.
18. Ballabio A. The rise and fall of positional cloning? Nat Genet 1993; 3: 277-279.
19. Knight S J L, Flannery A V, Hirst M C et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993; 74: 127-134.
20. Campuzano V, Montermini L, Moltò M D et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Sci 1996, 271: 1423-1427.
21. Flam F. Hints of a language in junk DNA. Sci 1994; 266: 1320.
22. McDonald J F. Evolution and consequences of transposable elements. Curr Opin Genet Devel 1993; 3: 855-864.
23. Ferat J-L, Michel F. Group II self-splicing introns in bacteria. Nat 1993; 364: 358-361.
24. Fischer K. Rapid evolution and histocompatibility antigen function. J Theor Biol 1980; 84: 513-522.
25. Economou E P, Bergen A W, Warren A C, Antonarakis S E. The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc Natl Acad Sci USA 1990; 87: 2951-2954.
26. Takasaki N, Murata S, Saitoh M, Kobayashi T, Park L, Okada N. Species-specific amplification of tRNA-derived short interspersed repetitive elements (SINEs) by retroposition: A process of parasitization of entire genomes during the evolution of salmonids. Proc Natl Acad Sci USA 1994; 91: 10153-10157.
27. Schiestl R H, Petes T D. Integration of DNA fragments by illegitimate recombination in Saccharomyces cerevisiae. Proc Natl Acad Sci USA 1991; 88: 7585-7589.
28. Shapiro J A. Adaptive mutation: who's really in the garden? Sci 1995; 268: 373-374.
29. Culotta E. A boost for 'adaptive' mutation. Sci 1994; 265: 318-319.
30. Haaf T, Sirugo G, Kidd K K, Ward D C. Chromosomal localization of long trinucleotide repeats in the human genome by fluorescence in situ hybridization. Nat Genet 1996; 12: 183-185.
31. O'Donovan M C, Guy C, Craddock N et al. Expanded CAG repeats in schizophrenia and bipolar disorder. Nat Genet 1995; 10: 380-381.
32. Bonifati V, Vanacore N, Meco G. Anticipation of onset age in familial Parkinson's disease. Neurol 1994; 44: 1978-1979.
33. Moises H W, Yang L, Kristbjarnarson H et al. An international two-stage genome-wide search for schizophrenia susceptibility genes. Nat Genet 1995; 11: 321-323.
34. Stine O C, Xu J, Koskela R et al. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet 1995; 57: 1384-1394.
35. Risch N, Botstein D. A manic-depressive history. Nat Genet 1996; 12: 351-353.
36. Marshall E. The highs and lows on the research roller coaster. Sci 1994; 264: 1693-1695.
37. Morell V. Manic-depression findings spark polarized debate. Sci 1996; 272: 31-32.
38. Kuhl D P A, Caskey C T. Trinucleotide repeats and genome variation. Curr Opin Genet Devel 1993; 3: 404-407.
39. Servadio A, Koshy B, Armstrong D, Antalffy B, Orr H T, Zoghbi H Y. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 1995; 10: 94-98.
40. Lansbury P T Jr, Costa P R, Griffiths J M et al. Structural model for the β-amyloid fibril based on interstrand alignment of an antiparallel-sheet comprising a C-terminal peptide. Nat Struct Biol 1995; 2: 990-998.
41. Barinaga M. An intriguing new lead on Huntington's disease. Sci 1996; 271: 1233-1234.
42. Burke J R, Engchild J J, Martin M E et al. Huntington and DRPLA proteins selectively interact with the enzyme GAPDH. Nat Med 1996; 2: 347-350.
43. Choi D W. Bench to bedside: The glutamate connection. Sci 1992; 258: 241-243.
44. During M J, Spencer D D. Extracellular hippocampal glutamate and spontaneous seizure in the conscious human brain. Lancet 1993; 341: 1607-1610.
45. Humpel C, Lindqvist E, Söderström S, Kylberg A, Ebendal T, Olson L. Monitoring release of neurotrophic activity in the brains of awake rats. Sci 1995; 269: 552-554.
46. 2+ store. Sci 1995; 270: 1835-1838.
47. Mosbacher J, Schoepfer R, Monyer H, Burnashev N, Seeburg P H, Ruppersberg J P. A molecular determinant for submillisecond desensitization in glutamate receptors. Sci 1994; 266: 1059-1062.
48. Barinaga M. A new face for the glutamate receptor. Sci 1995; 267: 177-178.
49. Takahashi J S, Pinto L H, Vitaterna M H. Forward and reverse genetic approaches to behavior in the mouse. Sci 1994; 264: 1724-1732.
50. Grady C L, McIntosh A R, Horwitz B et al. Age-related reductions in human recognition memory due to impaired encoding. Sci 1995; 269: 218-221.
51. Sik A, Ylinen A, Penttonen M, Buzsáki G. Inhibitory CA1-CA3-hilar region feedback in the hippocampus. Sci 1994; 265: 1722-1724.
52. Kandel E, Abel T. Neuropeptides, adenylyl cyclase, and memory storage. Sci 1995; 268; 825-826.
53. Smiraova T, Laroche S, Errington M L, Hicks A A, Bliss T V P, Mallet J. Transsynaptic expression of a presynaptic glutamate receptor during hippocampal long-term potentiation. Sci 1993; 262: 433-436.
54. Bach-y-Rita P, Barondes S H. Psychopharmacologic drugs: mechanisms of action. Sci 1994; 264: 642-644.
55. + channels by local anesthetics. Sci 1994; 265: 1724-1728.
56. Thomson A H, Brodie M J. Pharmacokinetic optimization of anticonvulsant therapy. Clin Pharmacokinet 1992; 23: 216-230.
57. Richens A. New drugs for epilepsy: a rapidly changing scene. Acta Neurol Scand 1992; 140: 65-70.
58. Anhut H, Ashman P, Feuerstein T J, Sauermann W, Saunders M, Schmidt B, and the International Gabapentin Study Group. Gabapentin (Neurontin) as add-on therapy in patients with partial seizures: A double-blind, placebo-controlled study. Epil 1994; 35: 795-801.
59. Field L L, Tobias R, Magnus T. A locus on chromosome 15q26 (IDDM3) produces susceptibility to insulin-dependent diabetes mellitus. Nat Genet 1994; 8: 189-194.
60. Copeman J B, Cucca F, Hearne C M et al. Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33. Nat Genet 1995; 9: 80-85.
61. Fischer K. Rheumatoid arthritis: connection to a rapid evolution mechanism? Med Hypotheses 1987; 24: 353-368.
62. Bain S C, Prins J B, Hearne C M et al. Insulin gene region-encoded susceptibility to type 1 diabetes is not restricted to HLA-DR4-positive individuals. Nat Genet 1992; 2: 212-215.
63. Permutt M A, Ghosh S. Rat model contributes new loci for NIDDM susceptibility in man. Nat Genet 1996; 12: 4-6.
64. Lanchbury J S, Pitzalis C. Cellular immune mechanisms in rheumatoid arthritis and other inflammatory arthritides. Curr Opin Immun 1993; 5: 918-924.
65. Rieux-Laucat F, Le Deist F, Hivroz C et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Sci 1995; 268: 1347-1349.
66. Neumann H, Cavalie A, Jenne D E, Wekerle H. Induction of MHC class I genes in neurons. Sci 1995; 269: 549-552.