Composition for preventing or treating cardiofaciocutaneous syndrome
AssigneeKorea Advanced Institute of Science and Technology
InventorsYong Mahn Han, Jung Yun Choi
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Abstract
The present invention relates to a pharmaceutical composition for the prevention or treatment of CFC (cardiofaciocutaneous) syndrome comprising a TGF-β signaling pathway inhibitor or a BMP signaling pathway activator. The treatment of SB-431542 or BMP4 protein was confirmed to increase the ALP activity and bone mineral deposition in the osteoblasts originated from the induced pluripotent stem cells derived from CFC syndrome patients. Thus, the TGF-β signaling pathway inhibitor containing SB-431542 or the BMP signaling pathway activator containing BMP4 protein can be effectively used for the prevention or treatment of CFC syndrome.
Claims8
A method for preventing or treating CFC (cardiofaciocutaneous) syndrome, comprising administering a pharmaceutically amount of one or more inhibitors of TGF-β signaling pathway selected from the group consisting of SB-431542, LY2109761, LY2157299, LY-364937, SD-208 and Ki26894.
A method for preventing or treating CFC (cardiofaciocutaneous) syndrome, comprising administering a pharmaceutically amount of BMP4 (human bone morphogenic protein 4) protein, a polynucleotide encoding the BMP4 protein or a vector comprising the polynucleotide.
A method for screening drug candidates for treating CFC syndrome, which comprises the following steps:
- i) treating a test compound or a composition to the osteoblasts differentiated from iPSCs derived from CFC syndrome patients in vitro;
- ii) analyzing the ALP enzyme activity or degree of bone mineral deposition in the osteoblasts of step i);
- and
- iii) selecting a test compound or a composition that increased the ALP enzyme activity or degree of bone mineral deposition, compared with the non-treated control group.
Dependencies are inferred from the claim text.