Muscle and Heart Function Restoration in a Limb Girdle Muscular Dystrophy 2I (LGMD2I) Mouse Model by Systemic FKRP Gene Delivery

Molecular Therapy - Tập 22 - Trang 1890-1899 - 2014
Chunping Qiao1, Chi-Hsien Wang1,2, Chunxia Zhao1,3, Peijuan Lu4, Hiroyuki Awano4, Bin Xiao1, Jianbin Li1, Zhenhua Yuan1, Yi Dai5, Carrie Bette Martin1, Juan Li1, Qilong Lu4, Xiao Xiao1
1Division of Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, North Carolina, USA
2Graduate Institute of Injury Prevention and Control, College of Public Health and Nutrition, Taipei Medical University, Taipei, Taiwan
3Cardiovascular Division of Internal Medicine, Tongji Hospital, Tongji Medical college, Huazhong University of Science and Technology, Wuhan, PR China
4McColl-Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular/ALS Center, Carolinas Medical Center, Charlotte, North Carolina, USA
5Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China

Tài liệu tham khảo

Emery, 2002, The muscular dystrophies, Lancet, 359, 687, 10.1016/S0140-6736(02)07815-7 Michele, 2002, Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies, Nature, 418, 417, 10.1038/nature00837 Godfrey, 2007, Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan, Brain, 130, 2725, 10.1093/brain/awm212 Mercuri, 2003, Phenotypic spectrum associated with mutations in the fukutin-related protein gene, Ann Neurol, 53, 537, 10.1002/ana.10559 Kuga, 2012, Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan, J Biol Chem, 287, 9560, 10.1074/jbc.M111.271767 Bowe, 1994, Identification and purification of an agrin receptor from Torpedo postsynaptic membranes: a heteromeric complex related to the dystroglycans, Neuron, 12, 1173, 10.1016/0896-6273(94)90324-7 Sugita, 2001, A stoichiometric complex of neurexins and dystroglycan in brain, J Cell Biol, 154, 435, 10.1083/jcb.200105003 Barresi, 2006, Dystroglycan: from biosynthesis to pathogenesis of human disease, J Cell Sci, 119, 199, 10.1242/jcs.02814 Brockington, 2010, Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle, PLoS One, 5, e14434, 10.1371/journal.pone.0014434 Longman, 2003, Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan, Hum Mol Genet, 12, 2853, 10.1093/hmg/ddg307 van Reeuwijk, 2005, POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome, J Med Genet, 42, 907, 10.1136/jmg.2005.031963 Beltran-Valero de Bernabe, 2002, Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome, Am J Human Genet, 71, 1033, 10.1086/342975 Yoshida, 2001, Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1, Dev Cell, 1, 717, 10.1016/S1534-5807(01)00070-3 Kobayashi, 1998, An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy, Nature, 394, 388, 10.1038/28256 Brockington, 2001, Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C, Hum Mol Genet, 10, 2851, 10.1093/hmg/10.25.2851 Manya, 2004, Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity, Proc Natl Acad Sci USA, 101, 500, 10.1073/pnas.0307228101 Yoshida-Moriguchi, 2010, O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding, Science, 327, 88, 10.1126/science.1180512 Brown, 2004, Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies, Am J Pathol, 164, 727, 10.1016/S0002-9440(10)63160-4 Hong, 2011, Asian patients with limb girdle muscular dystrophy 2I (LGMD2I), J Clin Neurosci, 18, 494, 10.1016/j.jocn.2010.08.010 Beltran-Valero de Bernabe, 2004, Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome, J Med Genet, 41, e61, 10.1136/jmg.2003.013870 Chan, 2010, Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies, Hum Mol Genet, 19, 3995, 10.1093/hmg/ddq314 Wang, 2011, Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected], Am J Pathol, 178, 261, 10.1016/j.ajpath.2010.11.020 Xu, 2013, Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions, Mol Ther, 21, 1832, 10.1038/mt.2013.156 Xiao, 1996, Efficient long-term gene transfer into muscle tissue of immunocompetent mice by adeno-associated virus vector, J Virol, 70, 8098, 10.1128/JVI.70.11.8098-8108.1996 Wang, 2000, Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model, Proc Natl Acad Sci USA, 97, 13714, 10.1073/pnas.240335297 Harper, 2002, Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy, Nat Med, 8, 253, 10.1038/nm0302-253 Kornegay, 2010, Widespread muscle expression of an AAV9 human mini-dystrophin vector after intravenous injection in neonatal dystrophin-deficient dogs, Mol Ther, 18, 1501, 10.1038/mt.2010.94 Qiao, 2005, Amelioration of laminin-alpha2-deficient congenital muscular dystrophy by somatic gene transfer of miniagrin, Proc Natl Acad Sci USA, 102, 11999, 10.1073/pnas.0502137102 Stedman, 1991, The mdx mouse diaphragm reproduces the degenerative changes of Duchenne muscular dystrophy, Nature, 352, 536, 10.1038/352536a0 Mokuno, 1987, Serum creatine kinase isoenzymes in Duchenne muscular dystrophy determined by sensitive enzyme immunoassay methods, Muscle Nerve, 10, 459, 10.1002/mus.880100513 Watchko, 2002, Adeno-associated virus vector-mediated minidystrophin gene therapy improves dystrophic muscle contractile function in mdx mice, Hum Gene Ther, 13, 1451, 10.1089/10430340260185085 Wang, 2005, Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart, Nat Biotechnol, 23, 321, 10.1038/nbt1073 Sveen, 2008, Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy, Arch Neurol, 65, 1196, 10.1001/archneur.65.9.1196 Wang, 2008, Construction and analysis of compact muscle-specific promoters for AAV vectors, Gene Ther, 15, 1489, 10.1038/gt.2008.104 Li, 1999, Synthetic muscle promoters: activities exceeding naturally occurring regulatory sequences, Nat Biotechnol, 17, 241, 10.1038/6981 Wu, 2008, Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer, Proc Natl Acad Sci USA, 105, 14814, 10.1073/pnas.0805676105 Mertes, 1993, Symptoms, adverse effects, and complications associated with dobutamine stress echocardiography. Experience in 1118 patients, Circulation, 88, 15, 10.1161/01.CIR.88.1.15 He, 2012, Enhancing muscle membrane repair by gene delivery of MG53 ameliorates muscular dystrophy and heart failure in δ-Sarcoglycan-deficient hamsters, Mol Ther, 20, 727, 10.1038/mt.2012.5 Hollingsworth, 2013, Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I, Eur J Heart Fail, 15, 986, 10.1093/eurjhf/hft057 Wahbi, 2008, Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study, Neuromuscul Disord, 18, 650, 10.1016/j.nmd.2008.06.365 Li, 1999, rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy, Gene Ther, 6, 74, 10.1038/sj.gt.3300830 Qiao, 2011, Liver-specific microRNA-122 target sequences incorporated in AAV vectors efficiently inhibits transgene expression in the liver, Gene Ther, 18, 403, 10.1038/gt.2010.157 Xiao, 1998, Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus, J Virol, 72, 2224, 10.1128/JVI.72.3.2224-2232.1998 Ayuso, 2010, High AAV vector purity results in serotype- and tissue-independent enhancement of transduction efficiency, Gene Ther, 17, 503, 10.1038/gt.2009.157 Rohr, 2005, Quantitative real-time PCR for titration of infectious recombinant AAV-2 particles, J Virol Methods, 127, 40, 10.1016/j.jviromet.2005.03.006 Veldwijk, 2002, Development and optimization of a real-time quantitative PCR-based method for the titration of AAV-2 vector stocks, Mol Ther, 6, 272, 10.1006/mthe.2002.0659 Qiao, 2008, Myostatin propeptide gene delivery by adeno-associated virus serotype 8 vectors enhances muscle growth and ameliorates dystrophic phenotypes in mdx mice, Hum Gene Ther, 19, 241, 10.1089/hum.2007.159 Xiao, 2000, Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapy, J Virol, 74, 1436, 10.1128/JVI.74.3.1436-1442.2000 Bojak, 2002, Muscle specific versus ubiquitous expression of Gag based HIV-1 DNA vaccines: a comparative analysis, Vaccine, 20, 1975, 10.1016/S0264-410X(02)00081-6