Please use this identifier to cite or link to this item: https://doi.org/10.1038/s41434-022-00313-w
Title: First use of gene therapy to treat growth hormone resistant dwarfism in a mouse model
Authors: Sia, Kian Chuan 
Gan, Shu Uin 
Rodhi, Siti Humairah Mohd 
Fu, Zhen Ying
Kopchick, John J
Waters, Michael J
Lee, Kok Onn 
Keywords: Science & Technology
Life Sciences & Biomedicine
Biochemistry & Molecular Biology
Biotechnology & Applied Microbiology
Genetics & Heredity
Medicine, Research & Experimental
Research & Experimental Medicine
ADENOASSOCIATED VIRUS VECTOR
LONG-TERM TREATMENT
LARON-SYNDROME
FACTOR-I
IGF-I
INSENSITIVITY SYNDROME
CHILDREN
LIVER
DISRUPTION
DEFICIENCY
Issue Date: 1-Feb-2022
Publisher: SPRINGERNATURE
Citation: Sia, Kian Chuan, Gan, Shu Uin, Rodhi, Siti Humairah Mohd, Fu, Zhen Ying, Kopchick, John J, Waters, Michael J, Lee, Kok Onn (2022-02-01). First use of gene therapy to treat growth hormone resistant dwarfism in a mouse model. GENE THERAPY 29 (6) : 346-356. ScholarBank@NUS Repository. https://doi.org/10.1038/s41434-022-00313-w
Abstract: The only treatment tested for growth hormone receptor (GHR) defective Laron Syndrome (LS) is injections of recombinant insulin-like-growth factor 1 (rhIGF1). The response is suboptimal and associated with progressive obesity. In this study, we treated 4–5-week-old Laron dwarf mice (GHR−/−) with an adeno-associated virus expressing murine GHR (AAV-GHR) injection at a dose of 4 × 1010 vector genome per mouse. Serum growth hormone (GH) levels decreased, and GH-responsive IGF1, IGF binding protein 3 (IGFBP3) and acid labile subunit (ALS) increased. There was a significant but limited increase in body weight and length, similar to the response to rhIGF1 treatment in LS patients. All the major organs increased in weight except the brain. Our study is the first to use gene therapy to treat GH-receptor deficiency. We propose that gene therapy with AAV-GHR may eventually be useful for the treatment of human LS.
Source Title: GENE THERAPY
URI: https://scholarbank.nus.edu.sg/handle/10635/234498
ISSN: 0969-7128
1476-5462
DOI: 10.1038/s41434-022-00313-w
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