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Molecular Medicine Reports
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Print ISSN: 1791-2997 Online ISSN: 1791-3004
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November-December 2009 Volume 2 Issue 6

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International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

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Article

Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo

  • Authors:
    • Fang-Lin Zhang
    • Wei Dong
    • Xiao-Yan Wu
    • Shu-Qun Hu
    • Ya-Lin Xu
    • Wei-Wei Xu
    • Qi Chen
    • Le-Ming Fan

  • View Affiliations / Copyright

    Affiliations: Atherosclerosis Research Center, Nanjing Medical University, Nanjing 210029, P.R. China. zhangfl05@gmail.com
  • Pages: 931-936
    |
    Published online on: November 1, 2009
       https://doi.org/10.3892/mmr_00000194
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Abstract

This study was designed to investigate the repair of point mutations in the low density lipoprotein receptor (LDLR) gene mediated by single-stranded oligonucleotides (SSOs) in vivo. Mutations in the LDLR gene are known to be the prime cause of familial hypercholesterolemia (FH). SSOs result in sequence-specific alterations leading to the correction of mutations. In the present study, the LDLR gene with a nonsense mutation (c660x) was fused to a luciferase reporter gene (p660-LDLR-luc) and introduced into mouse liver by hydrodynamic gene transfer. These mice were then injected via the tail vein with different SSOs complexed with polyethylenimine. Firefly luciferase activity present in hepatic cell lysate was measured to analyze repair efficiency. Restriction fragment length polymorphism analysis and direct sequencing were performed to affirm that the LDLR mutation was corrected. The results indicate that the LDLR mutation was corrected in the liver in vivo only in the presence of antisense SSOs (anti-SSOs). Our findings provide initial evidence that the point mutation in p660-LDLR-luc can be corrected by anti-SSO targeted repair in vivo. This may be a potential strategy for the treatment of FH.

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Copy and paste a formatted citation
Spandidos Publications style
Zhang F, Dong W, Wu X, Hu S, Xu Y, Xu W, Chen Q and Fan L: Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo. Mol Med Rep 2: 931-936, 2009.
APA
Zhang, F., Dong, W., Wu, X., Hu, S., Xu, Y., Xu, W. ... Fan, L. (2009). Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo. Molecular Medicine Reports, 2, 931-936. https://doi.org/10.3892/mmr_00000194
MLA
Zhang, F., Dong, W., Wu, X., Hu, S., Xu, Y., Xu, W., Chen, Q., Fan, L."Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo". Molecular Medicine Reports 2.6 (2009): 931-936.
Chicago
Zhang, F., Dong, W., Wu, X., Hu, S., Xu, Y., Xu, W., Chen, Q., Fan, L."Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo". Molecular Medicine Reports 2, no. 6 (2009): 931-936. https://doi.org/10.3892/mmr_00000194
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang F, Dong W, Wu X, Hu S, Xu Y, Xu W, Chen Q and Fan L: Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo. Mol Med Rep 2: 931-936, 2009.
APA
Zhang, F., Dong, W., Wu, X., Hu, S., Xu, Y., Xu, W. ... Fan, L. (2009). Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo. Molecular Medicine Reports, 2, 931-936. https://doi.org/10.3892/mmr_00000194
MLA
Zhang, F., Dong, W., Wu, X., Hu, S., Xu, Y., Xu, W., Chen, Q., Fan, L."Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo". Molecular Medicine Reports 2.6 (2009): 931-936.
Chicago
Zhang, F., Dong, W., Wu, X., Hu, S., Xu, Y., Xu, W., Chen, Q., Fan, L."Targeted correction of point mutations in the low density lipoprotein receptor gene mediated by single-stranded oligonucleotides in vivo". Molecular Medicine Reports 2, no. 6 (2009): 931-936. https://doi.org/10.3892/mmr_00000194
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