Abstract
Technological developments in gene isolation and DNA sequencing have been important factors contributing to the knowledge of the genes associated with numerous diseases. This information has been critical for enhancing our understanding of the genetic basis of disease and the role that specific genes play in human phys
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Nathwani AC, Benjamin R, Nienhuis AW, Davidoff AM (2004) Current status and prospects for gene therapy. Vox Sanguinis 87:73–81
Sangiuolo F, Scaldaferri ML, Filareto A et al (2008) Cftr gene targeting in mouse embryonic stem cells mediated by small fragment homologous replacement (SFHR). Front Biosci 1:2989–2999
Macnab S, Whitehouse A (2009) Progress and prospects: human artificial chromosomes. Gene Ther 16:1180–1188
De Coppi P, Bartsch G Jr, Siddiqui MM et al (2007) Isolation of amniotic stem cell lines with potential for therapy. Nat Biotechnol 25:100–106
Spitalieri P, Cortese G, Pietropolli A et al (2009) Identification of multipotent cytotrophoblast cells from human first trimester chorionic villi. Cloning Stem Cells 11:535–556
Nakayama M (2010) Homologous recombination in human iPS and ES cells for use in gene correction therapy. Drug Discov Today 15:198–202
Eisenstein M (2010) IPSCs: one cell to rule them all? Nature methods 7:81–85
Rao M, Condic ML (2008) Alternative sources of pluripotent stem cells: scientific solutions to an ethical dilemma. Stem Cells Dev 17:1–10
Aiuti A, Slavin S, Aker M et al (2002) Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296:2410–2413
Gaspar HB, Parsley KL, Howe S et al (2004) Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Lancet 364:2181–2187
Hacein-Bey-Abina S, Le Deist F, Carlier F et al (2002) Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N Engl J Med 346:1185–1193
Thrasher A (2007) Severe adverse event in clinical trial of gene therapy for X-SCID. http://www.esgct.org/upload/X-SCID_statement_AT.pdf
Kohn DB, Sadelain M, Glorioso JC (2003) Occurrence of leukaemia following gene therapy of X-linked SCID. Nat Rev Cancer 3:477–488
Aiuti A, Cattaneo F, Galimberti S et al (2009) Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 360:447–458
Bainbridge JW, Smith AJ, Barker SS et al (2008) Effect of gene therapy on visual function in Leber’s congenital amaurosis. N Engl J Med 358:2231–2239
van Deutekom JC, van Ommen GJ (2003) Advances in Duchenne muscular dystrophy gene therapy. Nat Rev Genet 4:774–783. Review
Cho DH, Tapscott SJ (2007) Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta 1772:195–204
Takeshima Y, Nishio H, Sakamoto H et al (1995) Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe. J Clin Invest 95:515–520
Wu B, Moulton HM, Iversen PL et al (2008) Effective rescue of dystrophin improves cardiac function in dystrophin-deficient mice by a modified morpholino oligomer. Proc Natl Acad Sci USA 105:14814–14819
Gruenert DC, Bruscia E, Novelli G et al (2003) Sequence specific modification of genomic DNA by small DNA fragments. J Clin Invest 112:637–641
Kapsa R, Quigley A, Lynch GS et al (2001) In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement. Hum Gene Ther 12:629–642
Hoshiya H, Kazuki Y, Abe S et al (2009) A highly stable and nonintegrated human artificial chromosome (HAC) containing the 2.4 Mb entire human dystrophin gene. Molecular Therapy 17:309–317
Sangiuolo F, Filareto A, Spitalieri P (2005) In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement. Hum Gene Ther 16:869–880
Monani UR, Sendtner M, Coovert DD et al (2000) The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(−/−) mice and results in a mouse with spinal muscular atrophy. Human Molecular Genetics 9:333–339
Azzouz M, Le T, Ralph GS et al (2004) Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy. J Clin Invest 114:1726–1731
Foust KD, Wang X, McGovern VL (2010) Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 28:271–274
Passini MA, Bu J, Roskelley EM et al (2010) CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy. J Clin Invest 120:1253–1264
Acsadi G, Anguelov RA, Yang H et al (2002) Increased survival and function of SOD1 mice after glial cell-derived neurotrophic factor gene therapy. Hum Gene Ther 13:1047–1059
Wang LJ, Lu YY, Muramatsu S et al (2002) Neuroprotective effects of glial cell line-derived neurotrophic factor mediated by an adeno-associated virus vector in a transgenic animal model of amyotrophic lateral sclerosis. J Neurosci 22:6920–6928
Azzouz M, Ralph GS, Storkebaum E et al (2004) VEGF delivery with retrogradely transported lentivector prolongs survival in a mouse ALS model. Nature 429:413–417
Kaspar BK, Lladó J, Sherkat N et al (2003) Retrograde viral delivery of IGF-1 prolongs survival in a mouse ALS model. Science 301:839–842
Hsich G, Sena-Esteves M, Breakefield XO (2002) Critical issues in gene therapy for neurologic disease. Hum Gene Ther 13:579–604
Hacein-Bey-Abina S, Von Kalle C, Schmidt M et al (2003) LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302:415–419
Montini E, Cesana D, Schmidt M et al (2006) Hematopoietic stem cell gene transfer in a tumor-prone mouse model uncovers low genotoxicity of lentiviral vector integration. Nat Biotechnol 24:687–696
Storkebaum E, Lambrechts D, Dewerchin M et al (2005) Treatment of motoneuron degeneration by intracerebroventricular delivery of VEGF in a rat model of ALS. Nat Neurosci 8:85–92
Takahashi K, Yamanaka S (2006) Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126:663–676
Gao J, Coggeshall RE, Tarasenko YI, Wu P (2005) Human neural stem cell-derived cholinergic neurons innervate muscle in motoneuron deficient adult rats. Neuroscience 131:257–262
Xu L, Yan J, Chen D et al (2006) Human neural stem cell grafts ameliorate motor neuron disease in SOD-1 transgenic rats. Transplantation 82:865–875
Wichterle H, Lieberam I, Porter JA, Jessell TM (2002) Directed differentiation of embryonic stem cells into motor neurons. Cell 110:385–397
Harper JM, Krishnan C, Darman JS et al (2004) Axonal growth of embryonic stem cell-derived motoneurons in vitro and in motoneuron-injured adult rats. Proc Natl Acad Sci USA 101:7123–7128
Corti S, Locatelli F, Papadimitriou D et al (2006) Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1. Hum Mol Genet 15:167–187
Corti S, Locatelli F, Papadimitriou D et al (2007) Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model. Brain 130:1289–1305
Corti S, Nizzardo M, Nardini M (2008) Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy. J Clin Invest 118:3316–3330
Dimos JT, Rodolfa KT, Niakan KK et al (2008) Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 321:1218–1221
Ebert AD, Yu J, Rose FF et al (2008) Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 457:277–280
Wang KC, Helms JA, Chang HY (2009) Regeneration, repair and remembering identity: the three Rs of Hox gene expression. Trends Cell Biol 19:268–275
Ghosh AK, Varga J (2007) The transcriptional coactivator and acetyltransferase p300 in fibroblast biology and fibrosis. J Cell Physiol 213:663–671
Zentilin L, Puligadda U, Lionetti V et al (2009) Cardiomyocyte VEGFR-1 activation by VEGF-B induces compensatory hypertrophy and preserves cardiac function after myocardial infarction. FASEB J 24:1467–1478
Mulder G, Tallis AJ, Marshall VT et al (2009) Treatment of nonhealing diabetic foot ulcers with a platelet-derived growth factor gene-activated matrix (GAM501): results of a phase 1/2 trial. Wound Repair Regen 17:772–779
Anitua E, Sánchez M, Orive G et al (2008) Delivering growth factors for therapeutics. Trends Pharmacol Sci 29:37–41
Tafuro S, Ayuso E, Zacchigna S et al (2009) Inducible adeno-associated virus vectors promote functional angiogenesis in adult organisms via regulated vascular endothelial growth factor expression. Cardiovasc Res 83:663–671
Voigt K, Izsvák Z, Ivics Z (2008) Targeted gene insertion for molecular medicine. J Mol Med 86:1205–1219
Tolmachov O (2009) Designing plasmid vectors. Methods Mol Biol 542:117–129
Smith RH (2008) Adeno-associated virus integration: virus versus vector. Gene Ther 15:817–822
Rippe B, Rosengren BI, Carlsson O et al (2002) Transendothelial transport: the vesicle controversy. J Vasc Res 39:375–390
Kulkarni M, Greiser U, O’Brien T et al (2010) Liposomal gene delivery mediated by tissueengineered scaffolds. Trends Biotechnol 28:28–36
Giacca M (2007) Virus-mediated gene transfer to induce therapeutic angiogenesis: where do we stand? Int J Nanomedicine 2:527–540
Ritter T, Lehmann M, Volk HD (2002) Improvements in gene therapy: averting the immune response to adenoviral vectors. Bio Drugs 16:3–10
Zentilin L, Giacca M (2008) Adeno-associated virus vectors: versatile tools for in vivo gene transfer. Contrib Nephrol 159:63–77
Pluta K, Kacprzak MM (2009) Use of HIV as a gene transfer vector. Acta Biochim Pol 56:531–595
D’Costa J, Mansfield SG, Humeau LM (2009) Lentiviral vectors in clinical trials: Current status. Curr Opin Mol Ther 11:554–564
Mok H, Park JW, Park TG (2007) Micro-encapsulation of PEGylated adenovirus within PLGA microspheres for enhanced stability and gene transfection efficiency. Pharm Res 24:2263–2269
Enestvedt CK, Hosack L, Winn SR et al (2008) VEGF gene therapy augments localized angiogenesis and promotes anastomotic wound healing: a pilot study in a clinically relevant animal model. J Gastrointest Surg 12:1762–1770
Trentin D, Hall H, Wechsler S et al (2006) Peptide-matrix-mediated gene transfer of an oxygen-insensitive hypoxia-inducible factor-1alpha variant for local induction of angiogenesis. Proc Natl Acad Sci USA 103:2506–2511
Cardoso AL, Simões S, de Almeida LP et al (2008) Tf-lipoplexes for neuronal siRNA delivery: a promising system to mediate gene silencing in the CNS. J Control Release 132:113–123
Mi J, Zhang X, Giangrande PH et al (2005) Targeted inhibition of alphavbeta3 integrin with an RNA aptamer impairs endothelial cell growth and survival. Biochem Biophys Res Commun 338:956–963
Heyde M, Partridge KA, Oreffo RO et al (2007) Gene therapy used for tissue engineering applications. J Pharm Pharmacol 59:329–350
Berry CC, Shelton JC, Lee DA (2009) Cell-generated forces influence the viability, metabolism and mechanical properties of fibroblast-seeded collagen gel constructs. J Tissue Eng Regen Med 3:43–53
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2011 Springer-Verlag Italia
About this chapter
Cite this chapter
Malgieri, A., Spitalieri, P., Novelli, G., Sangiuolo, F.C. (2011). Gene Therapy. In: Barbarisi, A. (eds) Biotechnology in Surgery. Updates in Surgery, vol 0. Springer, Milano. https://doi.org/10.1007/978-88-470-1658-3_8
Download citation
DOI: https://doi.org/10.1007/978-88-470-1658-3_8
Publisher Name: Springer, Milano
Print ISBN: 978-88-470-1657-6
Online ISBN: 978-88-470-1658-3
eBook Packages: MedicineMedicine (R0)