Gene Therapy

  • K. Rohini


Genes are the blueprints for proteins and serve as building blocks for tissues. Genes are regulators of chemical reactions inside the living cells. Mutation in a gene causes a change in the expressed structure of protein leading to protein dysfunction. Genetic errors disrupt gene expression and result in diseases. Advancement in biotechnology has helped in understanding the genetic basis of inherited diseases. Gene therapy is an experimental technique that uses genes as medicine for correcting defective genes that are responsible for disease development. Gene therapy has the potential to eliminate a wide range of inherited and acquired human diseases. A number of clinical trials in gene therapy are being carried out throughout the world. Gene therapy approach involves the treatment of disease by introducing new genetic instructions into the tissues of patients to correct the defective or abnormal gene. In gene therapy, mostly somatic (nonsex) cells are targeted for treatment. Due to controversies associated with the involvement of germ cells, this therapy is not attempted. As somatic gene therapy is directed at the individual, it has no impact on future generations. Changes directed at somatic cells are not inherited. The problem of “gene delivery” i.e., the need to get replacement genes into the desired tissues is the most difficult part and needs intensive research. The majority of current gene therapy clinical trials involve the mechanisms of viruses as “vectors”. These viral vectors are capable of integrating at random sites in the host’s cells. To date, gene therapy is being used to treat several genetic disorders. A large number of clinical trials are underway to test gene therapy as a treatment of choice for many life-threatening diseases.


Human Immunodeficiency Virus Gene Therapy Thymidine Kinase Chronic Granulomatous Disease Therapeutic Gene 
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  1. Aartsma-Rus A, van Ommen GJ (2007) Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications. RNA 13:1609–1624PubMedCrossRefGoogle Scholar
  2. Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, Scaramuzza S, Andolfi G, Mirolo M, Brigida I (2009) Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med 360(5):447–458PubMedCrossRefGoogle Scholar
  3. Buchschacher GL (2001) Introduction to retroviruses and retroviral vectors. Somat Cell Mol Genet 26:1–11PubMedCrossRefGoogle Scholar
  4. Bushman FD (2007) Retroviral integration and human gene therapy. J Clin Invest 117(8):2083–2086PubMedCrossRefGoogle Scholar
  5. Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile G, Gross F, Yvon E, Nusbaum P, Selz F, Hue C, Certain S, Casanova JL (2000) Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288(5466):669–672PubMedCrossRefGoogle Scholar
  6. Conese M, Ascenzioni F, Boyd AC (2011) Gene and cell therapy for cystic fibrosis: from bench to bedside. J Cystic Fibr 10(2):S114–S128CrossRefGoogle Scholar
  7. Deanna C, Burmester JK (2006) Gene therapy for cancer treatment: past, present and future. Clin Med Res 4(3):218–227CrossRefGoogle Scholar
  8. Li SD, Huang L (2006) Gene therapy progress and prospects: non-viral gene therapy by systemic delivery. Gene Ther 13:1313–1319PubMedCrossRefGoogle Scholar
  9. Mandel RJ, Manfredsson FP, Foust KD, Rising A, Reimsnider S, Nash K, Burger C (2006) Recombinant adeno-associated viral vectors as therapeutic agents to treat neurological disorders. Mol Ther 13:463–483PubMedCrossRefGoogle Scholar
  10. Miller DG, Rutledge EA, Russell DW (2002) Chromosomal effects of adeno-associated virus vector integration. Nat Genet 30:147–148PubMedCrossRefGoogle Scholar
  11. Niidome T, Huang L (2002) Gene therapy progress and prospects: nonviral vectors. Gene Ther 9:1647–1652PubMedCrossRefGoogle Scholar
  12. Pelletier R, Caron SO, Puymirat J (2006) RNA based gene therapy for dominantly inherited diseases. Curr Gene Ther 6:131–146PubMedCrossRefGoogle Scholar
  13. Patterson S, Papagatsias T, Benlahrech A (2009) Use of adenovirus in vaccines for HIV. Handb Exp Pharmacol 275–293Google Scholar
  14. St George JA (2003) Gene therapy progress and prospects: adenoviral vectors. Gene Ther 10:1135–1141PubMedCrossRefGoogle Scholar
  15. Suzuki S, Tadakuma T, Kunitomi M, Takayama E, Sato M, Asano T (2001) Liposome-mediated gene therapy using HSV-TK/Ganciclovir under the control of human PSA promoter in prostate cancer cells. Urol Int 67:216–223PubMedCrossRefGoogle Scholar
  16. Weidhaas JB, Angelichio EL, Fenner S, Coffin JM (2000) Relationship between retroviral DNA integration and gene expression. J Virol 74(18):8382–8389PubMedCrossRefGoogle Scholar
  17. Wolff JA, Budker V (2005) The mechanism of naked DNA uptake and expression. Adv Genet 54:3–20PubMedGoogle Scholar
  18. Woods NB, Bottero V (2006) Gene therapy: therapeutic gene causing lymphoma. Nature 440(7088):1123PubMedCrossRefGoogle Scholar
  19. Wu Z, Asokan A, Samulski RJ (2006) Adeno-associated virus serotypes: Vector toolkit for human gene therapy. Mol Ther 14:316–327PubMedCrossRefGoogle Scholar

Copyright information

© Springer India 2014

Authors and Affiliations

  1. 1.Unit of Biochemistry, Faculty of MedicineAIMST UniversityJalan Bedong SemelingMalaysia

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