THE ROLE OF RNA METABOLISM IN NEUROLOGICAL DISEASES
Alaqeel AM1,2,*, Abou Al-Shaar H3, Shariff RK3, Albakr A2
*Corresponding Author: Ahmed M. Alaqeel, M.D., Department of Neurosurgery, University of Calgary, 1403 29th Street NW, Calgary, Alberta T2N 2T9, Canada. Tel: +403-970-9117. Fax: +403-270-7878. E-mail: ahmedalaqeel@hotmail.com
page: 5

REFERENCES

1. Crosiers D, Theuns J, Cras P, Van Broeckhoven C. Parkinson disease: Insights in clinical, genetic and pathological features of monogenic disease subtypes. J Chem Neuroanat. 2011; 42(2): 131- 141. 2. Ross CA, Tabrizi SJ. Huntington’s disease: From molecular pathogenesis to clinical treatment. Lancet Neurol. 2011; 10(1): 83-98. 3. Steward O, Schuman EM. Protein synthesis at synaptic sites on dendrites. Annu Rev Neurosci. 2001; 24: 299-325. 4. Martin KC, Ephrussi A. mRNA localization: Gene expression in the spatial dimension. Cell. 2009; 136(4): 719-730. 5. Jiang C, Schuman EM. Regulation and function of local protein synthesis in neuronal dendrites. Trends Biochem Sci. 2002; 27(10): 506-513. 6. Martin KC, Casadio A, Zhu H, Yaping E, Rose JC, Chen M, et al. Synapse-specific, long-term facilitation of aplysia sensory to motor synapses: A function for local protein synthesis in memory storage. Cell. 1997; 91(7): 927-938. 7. Klann E, Dever TE. Biochemical mechanisms for translational regulation in synaptic plasticity. Nat Rev Neurosci. 2004; 5(12): 931-942. 8. Schratt G. MicroRNAs at the synapse. Nat Rev Neurosci. 2009; 10(12): 842-849. 9. Richter JD, Klann E. Making synaptic plasticity and memory last: Mechanisms of translational regulation. Genes Dev. 2009; 23(1): 1-11. 10. Wu L, Wells D, Tay J, Mendis D, Abbott MA, Barnitt A, et al. CPEB-mediated cytoplasmic polyadenylation and the regulation of experience- dependent translation of alpha-CaMKII mRNA at synapses. Neuron. 1998; 21(5): 1129- 1139. 11. Li LB, Bonini NM. Roles of trinucleotide-repeat RNA in neurological disease and degeneration. Trends Neurosci. 2010; 33(6): 292-298. 12. Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Annu Rev Neurosci. 2006; 29: 259-277. 13. Gatchel JR, Zoghbi HY. Diseases of unstable repeat expansion: Mechanisms and common principles. Nat Rev Genet. 2005; 6(10): 743-755. 14. Li LB, Yu Z, Teng X, Bonini NM. RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature. 2008; 453(7198): 1107-1111. 15. Sobczak K, de Mezer M, Michlewski G, Krol J, Krzyzosiak WJ. RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res. 2003; 31(19): 5469- 5482. 16. Sobczak K, Krzyzosiak WJ. CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. J Biol Chem. 2005; 280(5): 3898-3910. 17. Yu Z, Teng X, Bonini NM. Triplet repeat-derived siRNAs enhance RNA-mediated toxicity in a Drosophila model for myotonic dystrophy. PLoS Genet. 2011; 7(3): e1001340. doi: 10.1371/journalpgen. 1001340. 18. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, et al. Recruitment of human muscleblind proteins to (CUG) (n) expansions associated with myotonic dystrophy. EMBO J. 2000; 19(17): 4439-4448. 19. Bushati N, Cohen SM. MicroRNAs in neurodegeneration. Curr Opin Neurobiol. 2008; 18(3): 292-296. 20. Hébert SS, De Strooper B. Alterations of the microRNA network cause neurodegenerative disease. Trends Neurosci. 2009; 32(4): 199-206. 21. Bartel DP. MicroRNAs: Target recognition and regulatory functions. Cell. 2009; 136(2): 215- 233. 22. Filipowicz W, Bhattacharyya SN, Sonenberg N. Mechanisms of post-transcriptional regulation by micro-RNAs: Are the answers in sight? Nat Rev Genet. 2008; 9(2): 102-114. 23. Vasudevan S, Tong Y, Steitz JA. Switching from repression to activation: MicroRNAs can upregulate translation. Science. 2007; 318(5858): 1931-1934. 24. Krek A, Grün D, Poy MN, Wolf R, Rosenberg L, Epstein EJ, et al. Combinatorial microRNA target predictions. Nat Genet. 2005; 37(5): 495-500. 25. Lewis BP, Burge CB, Bartel DP. Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets. Cell. 2005; 120(1): 15-20. 26. Landgraf P, Rusu M, Sheridan R, Sewer A, Iovino N, Aravin A, et al. A mammalian microRNA expression atlas based on small RNA library sequencing. Cell. 2007; 129(7): 1401-1414. 27. Sethupathy P, Collins FS. MicroRNA target site polymorphisms and human disease. Trends Genet. 2008; 24(10): 489-497. 28. Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, et al. Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet. 2008; 17(23): 3631- 3642. 29. Wang G, van der Walt JM, Mayhew G, Li YJ, Züchner S, Scott WK, et al. Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet. 2008; 82(2): 283-289. 30. Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci. 2007; 30: 575-621. 31. Bilen J, Liu N, Burnett BG, Pittman RN, Bonini NM. MicroRNA pathways modulate polyglutamine- induced neurodegeneration. Mol Cell. 2006; 24(1): 157-163. 32. Schaefer A, O’Carroll D, Tan CL, Hillman D, Sugimori M, Llinas R, et al. Cerebellar neurodegeneration in the absence of microRNAs. J Exp Med. 2007; 204(7): 1553-1558. 33. Kim JM, Hong S, Kim GP, Choi YJ, Kim YK, Park SS, et al. Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Arch Neurol. 2007; 64(10): 1510- 1518. 34. Karres JS, Hilgers V, Carrera I, Treisman J, Cohen SM. The conserved microRNA miR-8 tunes atrophin levels to prevent neurodegeneration in Drosophila. Cell. 2007; 131(1): 136-145. 35. Waerner T, Gardellin P, Pfizenmaier K, Weith A, Kraut N. Human RERE is localized to nuclear promyelocytic leukemia oncogenic domains and enhances apoptosis. Cell Growth Differ. 2001; 12(4): 201-210. 36. Wells RD, Ashizawa T, Eds. Genetic Instabilities and Neurological Diseases, 2nd ed. Burlington, MA: Academic Press, 2006. 37. Sakamoto N, Ohshima K, Montermini L, Pandolfo M, Wells RD. Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription. J Biol Chem. 2001; 276(29): 27171-27177. 38. Marsh JL, Walker H, Theisen H, Zhu YZ, Fielder T, Purcell J. et al. Expanded polyglutamine peptides alone are intrinsically cytotoxic and cause neurodegeneration in Drosophila. Hum Mol Genet. 2000; 9(1): 13-25. 39. Todd PK, Paulson HL. RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol. 2010; 67(3): 291-300. 40. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001; 293(5531): 864-867. 41. Pascual M, Vicente M, Monferrer L, Artero R. The Muscleblind family of proteins: An emerging class of regulators of developmentally programmed alternative splicing. Differentiation. 2006; 74(2-3): 65-80. 42. Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet. 2001; 10(19): 2165-2170. 43. Jin P, Duan R, Qurashi A, Qin Y, Tian D, Rosser TC, et al. Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron. 2007; 55(4): 556-564. 44. Timchenko LT, Miller JW, Timchenko NA, De- Vore DR, Datar KV, Lin L, et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res. 1996; 24(22): 4407-4414. 45. White MC, Gao R, Xu W, Mandal SM, Lim JG, Hazra TK, et al. Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10. PLoS Genet. 2010; 6(6): e1000984. doi: 10.1371/journal. pgen. 1000984. 46. Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, et al. RNA gain-of-function in spinocerebellar ataxia type 8. PLoS Genet. 2009; 5(8): e1000600. doi: 10.1371/journal. pgen.1000600. 47. Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, et al. Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J. 2010; 29(7): 1248-1261. 48. Rudnicki DD, Holmes SE, Lin MW, Thornton CA, Ross CA, Margolis RL. Huntington’s disease--like 2 is associated with CUG repeatcontaining RNA foci. Ann Neurol. 2007; 61(3): 272-282. 49. Batra R, Charizanis K, Swanson MS. Partners in crime: Bidirectional transcription in unstable microsatellite disease. Hum Mol Genet. 2010; 19(R1): R77-R82. 50. Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci USA. 2011; 108(1): 260-265. 51. van Eyk CL, McLeod CJ, O’Keefe LV, Richards RI. Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease. Hum Mol Genet. 2012; 21(3): 536-547. 52. Lomen-Hoerth C, Anderson T, Miller B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology. 2002; 59(7): 1077-1079. 53. La Spada AR, Taylor JP. Repeat expansion disease: Progress and puzzles in disease pathogenesis. Nat Rev Genet. 2010; 11(4): 247-258. 54. Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, et al. Pathological TDP- 43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol. 2007; 61(5): 427- 434. 55. Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, et al. Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: Consensus recommendations. Acta Neuropathol. 2009; 117(1): 15-18. 56. Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, et al. Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry. 2011; 82(2): 196-203. 57. van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet. 2009; 41(10): 1083-1087. 58. Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet. 2010; 42(3): 234-239. 59. Arocena DG, Iwahashi CK, Won N, Beilina A, Ludwig AL, Tassone F, et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet. 2005; 14(23): 3661-3671.



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