Allele dependent silencing of collagen type i using small interfering RNAs targeting 3'UTR indels - A novel therapeutic approach in osteogenesis imperfecta

International Journal of Medical Sciences

Volumn 10, Issue 10, 2013, Pages 1333-1343

  Lindahl, Katarina ^a   Kindmark, Andreas ^a   Laxman, Navya ^a   Åström, Eva ^b   Rubin, Carl Johan ^a   Ljunggren, Östen ^a  

^a UPPSALA UNIVERSITY   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Collagen type I; Osteogenesis imperfecta; SiRNA

Indexed keywords

COLLAGEN TYPE 1; COMPLEMENTARY DNA; MESSENGER RNA; SMALL INTERFERING RNA; 3' UNTRANSLATED REGION; ALPHA 2(I) COLLAGEN; COLLAGEN TYPE I, ALPHA 1 CHAIN;

3' UNTRANSLATED REGION; ADULT; ALLELE; ARTICLE; BONE CELL; COHORT ANALYSIS; COL1A1 GENE; COL1A2 GENE; CONCENTRATION RESPONSE; CONTROLLED STUDY; DNA POLYMORPHISM; ETHNIC GROUP; GENE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE SEQUENCE; GENE SILENCING; GENE TARGETING; GENETIC TRANSFECTION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; OSTEOGENESIS IMPERFECTA; POPULATION RESEARCH; RNA INTERFERENCE; SWEDISH; CELL CULTURE; GENETICS; PHYSIOLOGY; POLYMERASE CHAIN REACTION;

3' UNTRANSLATED REGIONS; ALLELES; CELLS, CULTURED; COLLAGEN TYPE I; HUMANS; OSTEOGENESIS IMPERFECTA; POLYMERASE CHAIN REACTION; RNA, SMALL INTERFERING;

EID: 84882576348     PISSN: 14491907     EISSN: None     Source Type: Journal    
DOI: 10.7150/ijms.5774     Document Type: Article

References (45)

1. Willing MC, Pruchno CJ, Atkinson M, Byers PH. Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am J Hum Genet 1992; 51: 508-515.
2. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979; 16: 101-116.
3. Sillence DO, Rimoin DL, Danks DM. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser 1979; 15: 113-129.
4. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 2007; 28: 209-221.
5. Byers PH, Pyott SM. Recessively inherited forms of osteogenesis imperfecta. Annu Rev Genet 2012; 46: 475-497.
6. Phillini RT CA, Steiner RD. Bisphosphonate therapy for osteogenesis imper-fecta. Cochrane Database Syst. Rev. 2008
7. Castillo H, Samson-Fang L. Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review. Dev Med Child Neurol 2009; 51: 17-29.
8. Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, et al. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 2004; 74: 917-930.
9. Millington-Ward S, McMahon HP, Allen D, Tuohy G, Kiang AS, et al. RNAi of COL1A1 in mesenchymal progenitor cells. Eur J Hum Genet 2004; 12: 864-866.
10. Lindahl K, Rubin CJ, Kindmark A, Ljunggren O. Allele dependent silencing of COL1A2 using small interfering RNAs. Int J Med Sci 2008; 5: 361-365.
11. Takeshita F, Ochiya T. Therapeutic potential of RNA interference against cancer. Cancer Sci 2006; 97: 689-696.
12. Hamilton AJ, Baulcombe DC. A species of small antisense RNA in posttranscriptional gene silencing in plants. Science 1999; 286: 950-952.
13. Elbashir SM, Harborth J, Lendeckel W, Yalcin A, Weber K, et al. Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells. Nature 2001; 411: 494-498.
14. Zimmermann TS, Lee AC, Akinc A, Bramlage B, Bumcrot D, et al. RNAi-mediated gene silencing in non-human primates. Nature 2006; 441: 111-114.
15. Liao H, Irvine AD, Macewen CJ, Weed KH, Porter L, et al. Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One 2011; 6: e28582.
16. Schwarz DS, Ding H, Kennington L, Moore JT, Schelter J, et al. Designing siRNA that distinguish between genes that differ by a single nucleotide. PLoS Genet 2006;2: e140.
17. Hickerson RP, Smith FJ, Reeves RE, Contag CH, Leake D, et al. Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. J Invest Dermatol 2008; 128: 594-605.
18. Dykxhoorn DM, Schlehuber LD, London IM, Lieberman J. Determinants of specific RNA interference-mediated silencing of human beta-globin alleles differing by a single nucleotide polymorphism. Proc Natl Acad Sci U S A 2006; 103: 5953-5958.
19. Leslie Pedrioli DM, Fu DJ, Gonzalez-Gonzalez E, Contag CH, Kaspar RL, et al. Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. J Invest Dermatol 2012; 132: 1627-1635.
20. Muller GA, Hansen U, Xu Z, Griswold B, Talan MI, et al. Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. FASEB J 2012; 26: 668-677.
21. Grundberg E, Lau EM, Pastinen T, Kindmark A, Nilsson O, et al. Vitamin D receptor 3' haplotypes are unequally expressed in primary human bone cells and associated with increased fracture risk: the MrOS Study in Sweden and Hong Kong. J Bone Miner Res 2007; 22: 832-840.
22. Ge B, Gurd S, Gaudin T, Dore C, Lepage P, et al. Survey of allelic expression using EST mining. Genome Res 2005; 15: 1584-1591.
23. Bachrach LK, Ward LM. Clinical review 1: Bisphosphonate use in childhood osteoporosis. J Clin Endocrinol Metab 2009; 94: 400-409.
24. Phillipi CA, Remmington T, Steiner RD. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 2008;:CD005088.
25. Letocha AD, Cintas HL, Troendle JF, Reynolds JC, Cann CE, et al. Controlled trial of pamidronate in children with types III and osteogenesis IV. imperfecta confirms vertebral gains but not short-term functional improvement. J Bone Miner Res 2005; 20: 977-986.
26. Mehrotra M, Rosol M, Ogawa M, Larue AC. Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: microcomputed tomography studies. Exp Hematol 2010; 38: 593-602.
27. Panaroni C, Gioia R, Lupi A, Besio R, Goldstein SA, et al. In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. Blood 2009; 114: 459-468.
28. Li F, Wang X, Niyibizi C. Distribution of single-cell expanded marrow derived progenitors in a developing mouse model of osteogenesis imperfecta following systemic transplantation. Stem Cells 2007; 25: 3183-3193
29. Guillot PV, Abass O, Bassett JH, Shefelbine SJ, Bou-Gharios G, et al. Intrauterine transplantation of human fetal mesenchymal stem cells from first-trimester blood repairs bone and reduces fractures in osteogenesis imperfecta mice. Blood 2008; 111: 1717-1725.
30. Le Blanc K, Gotherstrom C, Ringden O, Hassan M, McMahon R, et al. Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta. Transplantation 2005; 79: 1607-1614.
31. Raghunath M, Mackay K, Dalgleish R, Steinmann B. Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr 1995; 154: 123-129.
32. Cabral WA, Marini JC. High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am J Hum Genet 2004; 74: 752-760.
33. Horwitz EM, Prockop DJ, Gordon PL, Koo WW, Fitzpatrick LA, et al. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 2001; 97: 1227-1231.
34. Horwitz EM, Gordon PL, Koo WK, Marx JC, Neel MD, et al. Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone. Proc Natl Acad Sci U S A 2002; 99: 8932-8937.
35. Nuytinck L, Coppin C, De Paepe A. A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I. Matrix Biol 1998; 16: 349-352.
36. Lombardi MS, Jaspers L, Spronkmans C, Gellera C, Taroni F, et al. A majority of Huntington's disease patients may be treatable by individualized allele-specific RNA interference. Exp Neurol 2009; 217: 312-319.
37. Carroll JB, Warby SC, Southwell AL, Doty CN, Greenlee S, et al. Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin. Mol Ther 2011; 19: 2178-2185.
38. Pfister EL, Kennington L, Straubhaar J, Wagh S, Liu W, et al. Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Curr Biol 2009; 19: 774-778.
39. Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, et al. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J Invest Dermatol 2011; 131: 2079-2086.
40. de Ynigo-Mojado L, Martin-Ruiz I, Sutherland JD. Efficient allele-specific targeting of LRRK2 R1441 mutations mediated by RNAi. PLoS One 2011;6: e21352.
41. McNamara JO, 2nd, Andrechek ER, Wang Y, Viles KD, Rempel RE, et al. Cell type-specific delivery of siRNAs with aptamer-siRNA chimeras. Nat Biotechnol 2006; 24: 1005-1015.
42. Ashihara E, Kawata E, Maekawa T. Future prospect of RNA interference for cancer therapies. Curr Drug Targets 2010; 11: 345-360.
43. Minakuchi Y, Takeshita F, Kosaka N, Sasaki H, Yamamoto Y, et al. Atelocollagen-mediated synthetic small interfering RNA delivery for effective gene silencing in vitro and in vivo. Nucleic Acids Res 2004;32: e109.
44. Ochiya T, Takahama Y, Nagahara S, Sumita Y, Hisada A, et al. New delivery system for plasmid DNA in vivo using atelocollagen as a carrier material: the Minipellet. Nat Med 1999; 5: 707-710.
45. Takeshita F, Minakuchi Y, Nagahara S, Honma K, Sasaki H, et al. Efficient delivery of small interfering RNA to bone-metastatic tumors by using atelocollagen in vivo. Proc Natl Acad Sci U S A 2005; 102: 12177-12182.