Genetic criteria for Huntington's disease pathogenesis

Brain Research Bulletin

Volumn 72, Issue 2-3 SPEC. ISS., 2007, Pages 78-82

  Gusella, James F ^a,b   MacDonald, Marcy ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Genetics; Huntington's disease; Modifier; Neurodegeneration

Indexed keywords

GENE PRODUCT;

DISEASE COURSE; DNA MODIFICATION; DNA SEQUENCE; EDITORIAL; GENE MAPPING; GENE TARGETING; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUNTINGTON CHOREA; MOLECULAR CLONING; MOLECULAR GENETICS; NEUROPATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ANIMALS; GENETIC TECHNIQUES; HUMANS; HUNTINGTON DISEASE;

EID: 33847630461     PISSN: 03619230     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainresbull.2006.10.014     Document Type: Editorial

References (36)

1. Andrew S., Theilmann J., Almqvist E., Norremolle A., Lucotte G., Anvret M., Sorensen S.A., Turpin J.C., and Hayden M.R. DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease. Clin. Genet. 43 (1993) 286-294
2. Bates G. Huntingtin aggregation and toxicity in Huntington's disease. Lancet 361 (2003) 1642-1644
3. Beal M.F. Huntington's disease, energy, and excitotoxicity. Neurobiol. Aging 15 (1994) 275-276
4. Bruyn R.P., and Stoof J.C. The quinolinic acid hypothesis in Huntington's chorea. J. Neurol. Sci. 95 (1990) 29-38
5. Chattopadhyay B., Ghosh S., Gangopadhyay P.K., Das S.K., Roy T., Sinha K.K., Jha D.K., Mukherjee S.C., Chakraborty A., Singhal B.S., Bhattacharya A.K., and Bhattacharyya N.P. Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India. Neurosci. Lett. 345 (2003) 93-96
6. DiFiglia M., Sapp E., Chase K.O., Davies S.W., Bates G.P., Vonsattel J.P., and Aronin N. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277 (1997) 1990-1993
7. Djousse L., Knowlton B., Hayden M., Almqvist E.W., Brinkman R., Ross C., Margolis R., Rosenblatt A., Durr A., Dode C., Morrison P.J., Novelletto A., Frontali M., Trent R.J., McCusker E., Gomez-Tortosa E., Mayo D., Jones R., Zanko A., Nance M., Abramson R., Suchowersky O., Paulsen J., Harrison M., Yang Q., Cupples L.A., Gusella J.F., MacDonald M.E., and Myers R.H. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease. Am. J. Med. Genet. A 119 (2003) 279-282
8. Djousse L., Knowlton B., Hayden M.R., Almqvist E.W., Brinkman R.R., Ross C.A., Margolis R.L., Rosenblatt A., Durr A., Dode C., Morrison P.J., Novelletto A., Frontali M., Trent R.J., McCusker E., Gomez-Tortosa E., Mayo Cabrero D., Jones R., Zanko A., Nance M., Abramson R.K., Suchowersky O., Paulsen J.S., Harrison M.B., Yang Q., Cupples L.A., Mysore J., Gusella J.F., MacDonald M.E., and Myers R.H. Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16. Neurogenetics 5 (2004) 109-114
9. Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M., Gray J., Conneally P.M., Young A., Penney J., Hollingsworth Z., Shoulson I., Lazzarini A.M., Falek A., Koroshetz W., Sax D.S., Bird E., Vonsattel J.P., Bonilla E., Alvir J., Bickham Conde J., Cha J.H., Dure L., Gomez F., Ramos M., Sanchez-Ramos J., Snodgrass S.R., de Young M., Wexler N.S., Moscowitz C., Penchaszadeh G., MacFarlane H., Anderson M.A., Jenkins B., Srinidhi J., Barnes G., Gusella J.F., and MacDonald M.E. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat. Genet. 4 (1993) 387-392
10. Fossale E., Wheeler V.C., Vrbanac V., Lebel L.A., Teed A., Mysore J.S., Gusella J.F., MacDonald M.E., and Persichetti F. Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice. Hum. Mol. Genet. 11 (2002) 2233-2241
11. Gines S., Ivanova E., Seong I.S., Saura C.A., and MacDonald M.E. Enhanced Akt signaling is an early pro-survival response that reflects N-methyl-d-aspartate receptor activation in Huntington's disease knock-in striatal cells. J. Biol. Chem. 278 (2003) 50514-50522
12. Gines S., Seong I.S., Fossale E., Ivanova E., Trettel F., Gusella J.F., Wheeler V.C., Persichetti F., and MacDonald M.E. Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice. Hum. Mol. Genet. 12 (2003) 497-508
13. Gusella J.F., and MacDonald M.E. Hunting for Huntington's disease. Mol. Genet. Med. 3 (1993) 139-158
14. Gusella J.F., and MacDonald M.E. Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease. Nat. Rev. Neurosci. 1 (2000) 109-115
15. Gusella J., and MacDonald M. No post-genetics era in human disease research. Nat. Rev. Genet. 3 (2002) 72-79
16. Gusella J.F., Wexler N.S., Conneally P.M., Naylor S.L., Anderson M.A., Tanzi R.E., Watkins P.C., Ottina K., Wallace M.R., Sakaguchi A.Y., Young A.B., Bonilla E., Shoulson I., and Martin J. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306 (1983) 234-238
17. Li J.L., Hayden M.R., Almqvist E.W., Brinkman R.R., Durr A., Dode C., Morrison P.J., Suchowersky O., Ross C.A., Margolis R.L., Rosenblatt A., Gomez-Tortosa E., Cabrero D.M., Novelletto A., Frontali M., Nance M., Trent R.J., McCusker E., Jones R., Paulsen J.S., Harrison M., Zanko A., Abramson R.K., Russ A.L., Knowlton B., Djousse L., Mysore J.S., Tariot S., Gusella M.F., Wheeler V.C., Atwood L.D., Cupples L.A., Saint-Hilaire M., Cha J.H., Hersch S.M., Koroshetz W.J., Gusella J.F., MacDonald M.E., Myers R.H., and The HD MAPS study. A genome scan for modifiers of age at onset in Huntington disease. Am. J. Hum. Genet. 73 (2003) 682-687
18. Lin C.H., Tallaksen-Greene S., Chien W.M., Cearley J.A., Jackson W.S., Crouse A.B., Ren S., Li X.J., Albin R.L., and Detloff P.J. Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Mol. Genet. 10 (2001) 137-144
19. MacDonald M.E., Gines S., Gusella J.F., and Wheeler V.C. Huntington's disease. Neuromol. Med. 4 (2003) 7-20
20. MacDonald M.E., Novelletto A., Lin C., Tagle D., Barnes G., Bates G., Taylor S., Allitto B., Altherr M., Myers R., Lehrach H., Collins F.S., Wasmuth J.J., Frontali M., and Gusella J.F. The Huntington's disease candidate region exhibits many different haplotypes. Nat. Genet. 1 (1992) 99-103
21. MacDonald M.E., Vonsattel J.P., Shrinidhi J., Couropmitree N.N., Cupples L.A., Bird E.D., Gusella J.F., and Myers R.H. Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. Neurology 53 (1999) 1330-1332
22. Meissen G.J., Myers R.H., Mastromauro C.A., Koroshetz W.J., Klinger K.W., Farrer L.A., Watkins P.A., Gusella J.F., Bird E.D., and Martin J.B. Predictive testing for Huntington's disease with use of a linked DNA marker. N. Engl. J. Med. 318 (1988) 535-542
23. Menalled L.B., Sison J.D., Dragatsis I., Zeitlin S., and Chesselet M.F. Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats. J. Comp. Neurol. 465 (2003) 11-26
24. Naze P., Vuillaume I., Destee A., Pasquier F., and Sablonniere B. Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease. Neurosci. Lett. 328 (2002) 1-4
25. Panov A., Obertone T., Bennett-Desmelik J., and Greenamyre J.T. Ca(2+)-dependent permeability transition and complex I activity in lymphoblast mitochondria from normal individuals and patients with Huntington's or Alzheimer's disease. Ann. N.Y. Acad. Sci. 893 (1999) 365-368
26. Panov A.V., Gutekunst C.A., Leavitt B.R., Hayden M.R., Burke J.R., Strittmatter W.J., and Greenamyre J.T. Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines. Nat. Neurosci. 5 (2002) 731-736
27. Ross C.A. Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders. Neuron 35 (2002) 819-822
28. Rubinsztein D.C., Leggo J., Chiano M., Dodge A., Norbury G., Rosser E., and Craufurd D. Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc. Natl. Acad. Sci. U.S.A. 94 (1997) 3872-3876
29. Sawa A., Wiegand G.W., Cooper J., Margolis R.L., Sharp A.H., Lawler Jr. J.F., Greenamyre J.T., Snyder S.H., and Ross C.A. Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization. Nat. Med. 5 (1999) 1194-1198
30. Shaw P.J. Excitatory amino acid receptors, excitotoxicity, and the human nervous system. Curr. Opin. Neurol. Neurosurg. 6 (1993) 414-422
31. Snell R.G., MacMillan J.C., Cheadle J.P., Fenton I., Lazarou L.P., Davies P., MacDonald M.E., Gusella J.F., Harper P.S., and Shaw D.J. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat. Genet. 4 (1993) 393-397
32. 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 72 (1993) 971-983
33. Wanker E.E. Protein aggregation and pathogenesis of Huntington's disease: mechanisms and correlations. Biol. Chem. 381 (2000) 937-942
34. Wexler N.S., Lorimer J., Porter J., Gomez F., Moskowitz C., Shackell E., Marder K., Penchaszadeh G., Roberts S.A., Gayan J., Brocklebank D., Cherny S.S., Cardon L.R., Gray J., Dlouhy S.R., Wiktorski S., Hodes M.E., Conneally P.M., Penney J.B., Gusella J., Cha J.H., Irizarry M., Rosas D., Hersch S., Hollingsworth Z., MacDonald M., Young A.B., Andresen J.M., Housman D.E., De Young M.M., Bonilla E., Stillings T., Negrette A., Snodgrass S.R., Martinez-Jaurrieta M.D., Ramos-Arroyo M.A., Bickham J., Ramos J.S., Marshall F., Shoulson I., Rey G.J., Feigin A., Arnheim N., Acevedo-Cruz A., Acosta L., Alvir J., Fischbeck K., Thompson L.M., Young A., Dure L., O'Brien C.J., Paulsen J., Brickman A., Krch D., Peery S., Hogarth P., Higgins Jr. D.S., and Landwehrmeyer B. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proc. Natl. Acad. Sci. U.S.A. 101 (2004) 3498-3503
35. Wheeler V.C., Gutekunst C.A., Vrbanac V., Lebel L.A., Schilling G., Hersch S., Friedlander R.M., Gusella J.F., Vonsattel J.P., Borchelt D.R., and MacDonald M.E. Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice. Hum. Mol. Genet. 11 (2002) 633-640
36. Wheeler V.C., Lebel L.A., Vrbanac V., Teed A., te Riele H., and MacDonald M.E. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum. Mol. Genet. 12 (2003) 273-281