A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference

Experimental Neurology

Volumn 217, Issue 2, 2009, Pages 312-319

  Lombardi, Maria Stella ^a   Jaspers, Leonie ^a   Spronkmans, Christine ^a   Gellera, Cinzia ^b   Taroni, Franco ^b   Di Maria, Emilio ^c   Donato, Stefano Di ^b   Kaemmerer, William F ^d  

^a MEDTRONIC BAKKEN RESEARCH CENTER   (Netherlands)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d MEDTRONIC INC   (United States)

Author keywords

Allele specific; Haplotype; Huntington's disease; Pyrosequencing; RNA interference; Small interfering RNA

Indexed keywords

DNA; HUNTINGTIN; SMALL INTERFERING RNA;

ADOLESCENT; ADULT; AGED; ALLELE SPECIFIC THERAPY; ARTICLE; CAUCASIAN; CHILD; EUROPE; EVIDENCE BASED PRACTICE; FEMALE; FIBROBLAST; GENE; GENE TARGETING; GENE THERAPY; GENETIC LINKAGE; GENOTYPE; HETEROZYGOSITY; HIGH THROUGHPUT SCREENING; HUMAN; HUNTINGTON CHOREA; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RNA INTERFERENCE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; CHILD; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENE TARGETING; GENE THERAPY; GENETIC SCREENING; HETEROZYGOTE; HUMANS; HUNTINGTON DISEASE; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA INTERFERENCE; RNA, SMALL INTERFERING; YOUNG ADULT;

EID: 67349263503     PISSN: 00144886     EISSN: 10902430     Source Type: Journal    
DOI: 10.1016/j.expneurol.2009.03.004     Document Type: Article

References (30)

1. Aronin N. Target selectivity in mRNA silencing. Gene Ther. 13 (2006) 509-516
2. In: Bates G.P., Harper P.S., and Jones A.L. (Eds). Huntington's Disease (2002), Oxford University Press, Oxford, England
3. Caplen N.J., Taylor J.P., Statham V.S., Tanaka F., Fire A., and Morgan R.A. Rescue of polyglutamine-mediated cytotoxicity by double-stranded RNA-mediated RNA interference. Hum. Mol. Genet. 11 (2002) 175-184
4. Cattaneo E., Zuccato C., and Tartari M. Normal huntingtin function: an alternative approach to Huntington's disease. Nat. Rev. Neurosci. 6 (2005) 919-930
5. DiFiglia M., Sena-Esteves M., Chase K., Sapp E., Pfister E., Sass M., Yoder J., Reeves P., Pandey R.K., Rajeev K.G., Manoharan M., Sah D.W., Zamore P.D., and Aronin N. Therapeutic silencing of mutant huntingtin with siRNA attenuates striatal and cortical neuropathology and behavioral deficits. Proc. Natl. Acad. Sci. U. S. A. 104 (2007) 17204-17209
6. Dragatsis I., Levine M.S., and Zeitlin S. Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice. Nat. Genet. 26 (2000) 300-306
7. Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M., et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat. Genet. 4 (1993) 387-392
8. Duyao M.P., Auerbach A.B., Ryan A., Persichetti F., Barnes G.T., McNeil S.M., Ge P., Vonsattel J.P., Gusella J.F., Joyner A.L., et al. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science 269 (1995) 407-410
9. Excoffier L., and Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol. Biol. Evol. 12 (1995) 921-927
10. Gauthier L.R., Charrin B.C., Borrell-Pages M., Dompierre J.P., Rangone H., Cordelieres F.P., De Mey J., MacDonald M.E., Lessmann V., Humbert S., and Saudou F. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell 118 (2004) 127-138
11. Gellera C., Meoni C., Castellotti B., Zappacosta B., Girotti F., Taroni F., and DiDonato S. Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene. Am. J. Hum. Genet. 59 (1996) 475-477
12. Harper S.Q., Staber P.D., He X., Eliason S.L., Martins I.H., Mao Q., Yang L., Kotin R.M., Paulson H.L., and Davidson B.L. RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc. Natl. Acad. Sci. U. S. A. 102 (2005) 5820-5825
13. Heinsen H., Strik M., Bauer M., Luther K., Ulmar G., Gangnus D., Jungkunz G., Eisenmenger W., and Gotz M. Cortical and striatal neurone number in Huntington's disease. Acta Neuropathol. 88 (1994) 320-333
14. Landles C., and Bates G.P. Huntingtin and the molecular pathogenesis of Huntington's disease. Fourth in molecular medicine review series. EMBO Rep. 5 (2004) 958-963
15. Liu W., Kennington L.A., Rosas H.D., Hersch S., Cha J.H., Zamore P.D., and Aronin N. Linking SNPs to CAG repeat length in Huntington's disease patients. Nat. Methods 5 (2008) 951-953
16. Machida Y., Okada T., Kurosawa M., Oyama F., Ozawa K., and Nukina N. rAAV-mediated shRNA ameliorated neuropathology in Huntington disease model mouse. Biochem. Biophys. Res. Commun. 343 (2006) 190-197
17. Martinez L.A., Naguibneva I., Lehrmann H., Vervisch A., Tchenio T., Lozano G., and Harel-Bellan A. Synthetic small inhibiting RNAs: efficient tools to inactivate oncogenic mutations and restore p53 pathways. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 14849-14854
18. Miller V.M., Xia H., Marrs G.L., Gouvion C.M., Lee G., Davidson B.L., and Paulson H.L. Allele-specific silencing of dominant disease genes. Proc. Natl. Acad. Sci. U. S. A. 100 (2003) 7195-7200
19. Nasir J., Floresco S.B., O'Kusky J.R., Diewert V.M., Richman J.M., Zeisler J., Borowski A., Marth J.D., Phillips A.G., and Hayden M.R. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81 (1995) 811-823
20. Rigamonti D., Bauer J.H., De-Fraja C., Conti L., Sipione S., Sciorati C., Clementi E., Hackam A., Hayden M.R., Li Y., Cooper J.K., Ross C.A., Govoni S., Vincenz C., and Cattaneo E. Wild-type huntingtin protects from apoptosis upstream of caspase-3. J. Neurosci. 20 (2000) 3705-3713
21. Rodriguez-Lebron E., Denovan-Wright E.M., Nash K., Lewin A.S., and Mandel R.J. Intrastriatal rAAV-mediated delivery of anti-huntingtin shRNAs induces partial reversal of disease progression in R6/1 Huntington's disease transgenic mice. Mol. Ther. 12 (2005) 618-633
22. Ross C.A. Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington's disease and related disorders. Neuron 35 (2002) 819-822
23. Roze E., Saudou F., and Caboche J. Pathophysiology of Huntington's disease: from huntingtin functions to potential treatments. Curr. Opin. Neurol. 21 (2008) 497-503
24. Sathasivam K., Amaechi I., Mangiarini L., and Bates G. Identification of an HD patient with a (CAG)180 repeat expansion and the propagation of highly expanded CAG repeats in lambda phage. Hum. Genet. 99 (1997) 692-695
25. Schwarz D.S., Ding H., Kennington L., Moore J.T., Schelter J., Burchard J., Linsley P.S., Aronin N., Xu Z., and Zamore P.D. Designing siRNA that distinguish between genes that differ by a single nucleotide. PLoS Genet. 2 (2006) e140
26. 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
27. van Bilsen P.H., Jaspers L., Lombardi M.S., Odekerken J.C., Burright E.N., and Kaemmerer W.F. Identification and allele-specific silencing of the mutant huntingtin allele in Huntington's disease patient-derived fibroblasts. Hum. Gene. Ther. 19 (2008) 710-719
28. Xia H., Mao Q., Paulson H.L., and Davidson B.L. siRNA-mediated gene silencing in vitro and in vivo. Nat. Biotechnol. 20 (2002) 1006-1010
29. Zeitlin S., Liu J.P., Chapman D.L., Papaioannou V.E., and Efstratiadis A. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat. Genet. 11 (1995) 155-163
30. Zuccato C., Ciammola A., Rigamonti D., Leavitt B.R., Goffredo D., Conti L., MacDonald M.E., Friedlander R.M., Silani V., Hayden M.R., Timmusk T., Sipione S., and Cattaneo E. Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science 293 (2001) 493-498