Skip to main content

Development of a lentiviral vector and an efficient infection method for gene therapy for p22phox-defective chronic granulomatous disease

An Erratum to this article was published on 31 August 2012

Abstract

Chronic granulomatous disease (CGD) is caused by impaired antimicrobial activity in phagocytes due to the absence or malfunction of the respiratory burst NADPH oxidase. In a previous study, we found that 12 patients from 10 unrelated families on Jeju Island had an identical homozygous single-base C-to-T substitution in exon 1 (c.7C > T) of CYBA, which encodes p22phox. Autosomal recessive p22phox-defective CGD carrierderived white blood cells were efficiently transduced by the elongation factor 1-alpha lentivirus constructs, as up to 90% of cells were green fluorescent protein (eGFP)-positive at 3 days post-transduction. pLL3.7-driven eGFP expression was stable for at least 4 weeks after transduction and persisted after CGD carrierderived cells were immortalized by human telomerase reverse transcriptase (hTERT) and B lymphoma Mo-MLV insertion region 1 (Bmi-1). Upon macrophage-like differentiation of the transduced HL-60 cells by dimethyl sulfoxide, up to 28% of the cells had higher mean levels of superoxide production than undifferentiated cells, and lentivirus efficiently transduced cells and induced the expression of genes for extended periods.

References

  • Ailles L, Schmidt M, de Sio FRS, Glimm H, Cavalieri S, Bruno S et al. (2002) Molecular evidence of lentiviral vector-mediated gene transfer into human self-renewing, multi-potent, long-term NOD/SCID repopulating hematopoietic cells. Mol Ther 6, 615–626.

    Article  CAS  Google Scholar 

  • Brenner S, Whiting-Theobald NL, Linton GF, Holmes KL, Anderson-Cohen M, Kelly PF et al. (2003). Concentrated RD114-pseudotyped MFGSgp91phox vector achieves high levels of functional correction of the chronic granulomatous disease oxidase defect in NOD/SCID/â2-microglobulin-/-repopulating mobilized human peripheral blood CD34 cells. Blood 102, 2789–2797.

    Article  CAS  Google Scholar 

  • Cavazzana-Calvo M and Fischer A (2007) Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Invest 117, 1456.

    Article  CAS  Google Scholar 

  • Collins SJ (1987) The HL-60 promyelocytic leukemia cell line: proliferation, differentiation, and cellular oncogene expression. Blood 70, 1233.

    CAS  Google Scholar 

  • Gao Z, Golob J, Tanavde VM, Civin CI, Hawley RG, and Cheng L (2001) High Levels of Transgene Expression Following Transduction of LongTerm NOD/SCIDRepopulating Human Cells with a Modified Lentiviral Vector. Stem Cells 19, 247–259.

    Article  CAS  Google Scholar 

  • Hacein-Bey-Abina S, von Kalle C, Schmidt M, Le Deist F, Wulffraat N, McIntyre E et al. (2003) A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 348, 255–256.

    Article  Google Scholar 

  • Ho C, Vowels M, Lockwood L, and Ziegler J (1996) Successful bone marrow transplantation in a child with X-linked chronic granulomatous disease. Bone Marrow Transplant 18, 213.

    CAS  Google Scholar 

  • Janssens W, Chuah MKL, Naldini L, Follenzi A, Collen D, Saint-Remy JM et al. (2003) Efficiency of onco-retroviral and lentiviral gene transfer into primary mouse and human B-lymphocytes is pseudotype dependent. Hum Gene Ther 14, 263–276.

    Article  CAS  Google Scholar 

  • Kim YM, Park JE, Kim JY, Lim HK, Nam JK, Cho M et al. (2009) Genetic Analysis of 10 Unrelated Korean Families with p22-phox-deficient Chronic Granulomatous Disease: An Unusually Identical Mutation of the CYBA Gene on Jeju Island, Korea. J Korean Med Sci 24, 1045.

    Article  CAS  Google Scholar 

  • Kume A and Dinauer MC (2000) Gene therapy for chronic granulomatous disease. J Lab Clin Med 135, 122–128.

    Article  CAS  Google Scholar 

  • Michalkiewicz M, Michalkiewicz T, Geurts AM, Roman RJ, Slocum GR, Singer O et al. (2007) Efficient transgenic rat production by a lentiviral vector. Am J Physiol-Heart Circ Physiol 293, H881–H894.

    Article  CAS  Google Scholar 

  • Miyoshi H, Smith KA, Mosier DE, Verma IM, and Torbett BE (1999) Transduction of human CD34 cells that mediate long-term engraftment of NOD/SCID mice by HIV vectors. Science 283, 682–686.

    Article  CAS  Google Scholar 

  • Okamoto T, Aoyama T, Nakayama T, Nakamata T, Hosaka T, Nishijo K et al. (2002) Clonal heterogeneity in differentiation potential of immortalized human mesenchymal stem cells. Biochem Biophys Res Commun 295, 354–361.

    Article  CAS  Google Scholar 

  • Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U et al. (2006) Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 12, 401–409.

    Article  CAS  Google Scholar 

  • Petersen JE, Hiran TS, Goebel WS, Johnson C, Murphy RC, Azmi FH et al. (2002) Enhanced cutaneous inflammatory reactions to Aspergillus fumigatus in a murine model of chronic granulomatous disease. J Invest Dermatol 118, 424–429.

    Article  CAS  Google Scholar 

  • Ramezani A and Hawley RG (2003) Human immunodeficiency virus type 1based vectors for gene delivery to human hematopoietic stem cells. Methods Mol Med 76, 467–492.

    CAS  Google Scholar 

  • Roe TY, Reynolds TC, Yu G, and Brown P (1993) Integration of murine leukemia virus DNA depends on mitosis. EMBO J 12, 2099.

    CAS  Google Scholar 

  • Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M et al. (2010) Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis 44, 291–299.

    Article  CAS  Google Scholar 

  • Saito M, Handa K, Kiyono T, Hattori S, Yokoi T, Tsubakimoto T et al. (2005) Immortalization of cementoblast progenitor cells with Bmi1 and TERT. J Bone Miner Res 20, 50–57.

    Article  CAS  Google Scholar 

  • Sirven A, Ravet E, Charneau P, Zennou V, Coulombel L, Guétard D et al. (2001) Enhanced transgene expression in cord blood CD34 -derived hematopoietic cells, including developing T cells and NOD/SCID mouse repopulating cells, following transduction with modified trip lentiviral vectors. Mol Therapy 3, 438–448.

    Article  CAS  Google Scholar 

  • Sutton RE, Wu HTM, Rigg R, Böhnlein E, and Brown PO (1998) Human immunodeficiency virus type 1 vectors efficiently transduce human hematopoietic stem cells. J Virol 72, 5781–5788.

    CAS  Google Scholar 

  • Teufelhofer O, Weiss RM., Parzefall W, Schulte-Hermann R., Micksche M., Berger W et al. (2003) Promyelocytic HL60 cells express NADPH oxidase and are excellent targets in a rapid spectrophotometric microplate assay for extracellular superoxide. Toxicol Sci 76, 376–383.

    Article  CAS  Google Scholar 

  • van Den Berg JM, Van Koppen E, Åhlin A, Belohradsky BH, Bernatowska E, Corbeel L et al. (2009) Chronic granulomatous disease: the European experience. PLoS One 4, e5234.

    Article  Google Scholar 

  • Woods NB, Fahlman C, Mikkola H, Hamaguchi I, Olsson K, Zufferey R et al. (2000) Lentiviral gene transfer into primary and secondary NOD/SCID repopulating cells. Blood 96, 3725–3733.

    CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding authors

Correspondence to Moonjae Cho or Kyung Sue Shin.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Kim, Y.M., Sik, H.J., Cho, M. et al. Development of a lentiviral vector and an efficient infection method for gene therapy for p22phox-defective chronic granulomatous disease. J Korean Soc Appl Biol Chem 55, 497–506 (2012). https://doi.org/10.1007/s13765-012-2098-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13765-012-2098-1

Keywords