Statin treatment rescues FGFR3 skeletal dysplasia phenotypes

Akihiro Yamashita, Miho Morioka, Hiromi Kishi, Takeshi Kimura, Yasuhito Yahara, Minoru Okada, Kaori Fujita, Hideaki Sawai, Shiro Ikegawa and Noriyuki Tsumaki ()
Additional contact information
Akihiro Yamashita: Cell Induction and Regulation Field, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan
Miho Morioka: Cell Induction and Regulation Field, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan
Hiromi Kishi: Cell Induction and Regulation Field, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan
Takeshi Kimura: Cell Induction and Regulation Field, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan
Yasuhito Yahara: Cell Induction and Regulation Field, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan
Minoru Okada: Cell Induction and Regulation Field, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan
Kaori Fujita: Cell Induction and Regulation Field, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan
Hideaki Sawai: Hyogo College of Medicine, Hyogo 663-8501, Japan
Shiro Ikegawa: Laboratory of Bone and Joint Diseases, Center for Integrated Medical Sciences, RIKEN, Tokyo 108-8639, Japan
Noriyuki Tsumaki: Cell Induction and Regulation Field, Center for iPS Cell Research and Application, Kyoto University, Kyoto 606-8507, Japan

Nature, 2014, vol. 513, issue 7519, 507-511

Abstract: Abstract Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in skeletal dysplasias, such as thanatophoric dysplasia and achondroplasia (ACH). The lack of disease models using human cells has hampered the identification of a clinically effective treatment for these diseases. Here we show that statin treatment can rescue patient-specific induced pluripotent stem cell (iPSC) models and a mouse model of FGFR3 skeletal dysplasia. We converted fibroblasts from thanatophoric dysplasia type I (TD1) and ACH patients into iPSCs. The chondrogenic differentiation of TD1 iPSCs and ACH iPSCs resulted in the formation of degraded cartilage. We found that statins could correct the degraded cartilage in both chondrogenically differentiated TD1 and ACH iPSCs. Treatment of ACH model mice with statin led to a significant recovery of bone growth. These results suggest that statins could represent a medical treatment for infants and children with TD1 and ACH.

Date: 2014
References: Add references at CitEc
Citations:

Downloads: (external link)
https://www.nature.com/articles/nature13775 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:513:y:2014:i:7519:d:10.1038_nature13775

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature13775

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().