Allele-Specific Gene Silencing in Two Mouse Models of Autosomal Dominant Skeletal Myopathy

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Loy, Ryan E ^a   Lueck, John D ^a   Mostajo Radji, Mohammed A ^a   Carrell, Ellie M ^a   Dirksen, Robert T ^a  

^a UNIVERSITY OF ROCHESTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; COMPLEMENTARY DNA; RYANODINE RECEPTOR; SMALL INTERFERING RNA;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT SKELETAL MYOPATHY; CALCIUM TRANSPORT; CELL STRAIN HEK293; CENTRAL CORE DISEASE; CONFOCAL MICROSCOPY; ELECTROPORATION; FOOT PAD; GENE SILENCING; HETEROZYGOSITY; IN VIVO STUDY; MALIGNANT HYPERTHERMIA; MOUSE; MYOPATHY; NONHUMAN; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TEMPERATURE DEPENDENCE;

ALLELES; ANIMALS; DISEASE MODELS, ANIMAL; GENE KNOCK-IN TECHNIQUES; GENE KNOCKDOWN TECHNIQUES; GENE SILENCING; GENES, DOMINANT; GENETIC TESTING; HEK293 CELLS; HUMANS; MICE; MUSCLES; MUSCULAR DISEASES; MUTATION; REPRODUCIBILITY OF RESULTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA, SMALL INTERFERING; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

MUS;

EID: 84869016830     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0049757     Document Type: Article

References (27)

1. Miller VM, Xia H, Marrs GL, Gouvion CM, Lee G, et al. (2003) Allele-specific silencing of dominant disease genes. Proc Natl Acad Sci U S A 100(12): 7195-7200.
2. Burnett JC, Rossi JJ, (2012) RNA-based therapeutics: Current progress and future prospects. Chem Biol 19(1): 60-71.
3. Goemans NM, Tulinius M, van den Akker JT, Burm BE, Ekhart PF, et al. (2011) Systemic administration of PRO051 in duchenne's muscular dystrophy. N Engl J Med 364(16): 1513-1522.
4. Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, et al. (2011) Exon skipping and dystrophin restoration in patients with duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An open-label, phase 2, dose-escalation study. Lancet 378(9791): 595-605.
5. Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA, (2007) Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 117(12): 3952-3957.
6. Wheeler TM, Sobczak K, Lueck JD, Osborne RJ, Lin X, et al. (2009) Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 325(5938): 336-339.
7. Chelu MG, Goonasekera SA, Durham WJ, Tang W, Lueck JD, et al. (2006) Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J 20(2): 329-330.
8. Zvaritch E, Depreux F, Kraeva N, Loy RE, Goonasekera SA, et al. (2007) An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc Natl Acad Sci U S A 104(47): 18537-18542.
9. Boncompagni S, Rossi AE, Micaroni M, Hamilton SL, Dirksen RT, et al. (2009) Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc Natl Acad Sci U S A.
10. Andronache Z, Hamilton SL, Dirksen RT, Melzer W, (2009) A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice. Proc Natl Acad Sci U S A 106(11): 4531-4536.
11. Loy RE, Orynbayev M, Xu L, Andronache Z, Apostol S, et al. (2011) Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum. J Gen Physiol 137(1): 43-57.
12. Zvaritch E, Kraeva N, Bombardier E, McCloy RA, Depreux F, et al. (2009) Ca2+ dysregulation in Ryr1I4895T/wt mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. Proc Natl Acad Sci U S A.
13. Boncompagni S, Loy RE, Dirksen RT, Franzini-Armstrong C, (2010) The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging. Aging Cell 9(6): 958-970.
14. Takeshima H, Yamazawa T, Ikemoto T, Takekura H, Nishi M, et al. (1995) Ca(2+)-induced Ca2+ release in myocytes from dyspedic mice lacking the type-1 ryanodine receptor. EMBO J 14(13): 2999-3006.
15. Nakai J, Dirksen RT, Nguyen HT, Pessah IN, Beam KG, et al. (1996) Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor. Nature 380(6569): 72-75.
16. Reynolds A, Leake D, Boese Q, Scaringe S, Marshall WS, et al. (2004) Rational siRNA design for RNA interference. Nat Biotechnol 22(3): 326-330.
17. Oestreich EA, Malik S, Goonasekera SA, Blaxall BC, Kelley GG, et al. (2009) Epac and phospholipase cepsilon regulate Ca2+ release in the heart by activation of protein kinase cepsilon and calcium-calmodulin kinase II. J Biol Chem 284(3): 1514-1522.
18. DiFranco M, Neco P, Capote J, Meera P, Vergara JL, (2006) Quantitative evaluation of mammalian skeletal muscle as a heterologous protein expression system. Protein Expr Purif 47(1): 281-288.
19. Beam KG, Knudson CM, (1988) Calcium currents in embryonic and neonatal mammalian skeletal muscle. J Gen Physiol 91(6): 781-798.
20. Durham WJ, Aracena-Parks P, Long C, Rossi AE, Goonasekera SA, et al. (2008) RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell 133(1): 53-65.
21. Lanner JT, Georgiou DK, Dagnino-Acosta A, Ainbinder A, Cheng Q, et al. (2012) AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation. Nat Med 18(2): 244-251.
22. Suzuki M, Zheng X, Zhang X, Zhang Y, Ichim TE, et al. (2009) Regulation of allergy with RNA interference. Crit Rev Immunol 29(6): 443-468.
23. Huang HY, Chiang BL, (2009) siRNA as a therapy for asthma. Curr Opin Mol Ther 11(6): 652-663.
24. Tiemann K, Rossi JJ, (2009) RNAi-based therapeutics-current status, challenges and prospects. EMBO Mol Med 1(3): 142-151.
25. Jackson AL, Burchard J, Schelter J, Chau BN, Cleary M, et al. (2006) Widespread siRNA "off-target" transcript silencing mediated by seed region sequence complementarity. RNA 12(7): 1179-1187.
26. Haley B, Zamore PD, (2004) Kinetic analysis of the RNAi enzyme complex. Nat Struct Mol Biol 11(7): 599-606.
27. Burnett JC, Rossi JJ, Tiemann K, (2011) Current progress of siRNA/shRNA therapeutics in clinical trials. Biotechnol J 6(9): 1130-1146.