2016 Fiscal Year Final Research Report
Empirical study of gene therapy applicable to genetic diseases due to variable mutations, based on introduction of confining mutations
| Project/Area Number |
15K15415
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
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| Project Period (FY) |
2015-04-01 – 2017-03-31
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| Keywords | 皮膚科学 / KID症候群 / GJB2 / トランスジェニックマウス |
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| Outline of Final Research Achievements |
Transgenic mice of BLACK-6J mouse background were prepared for three mutant genes carrying the mutations, GJB2-G12R, GJB2-G45E and GJB2-D50N, which are frequent found in human patients and research reports of KID syndrome. The existence of the mutated gene was confirmed by PCR from the tissue of the transgenic strains. But the protein expression in vivo was unable to be confirmed. As a cause of this phenomenon, it is speculated that abnormal connexin 26 encoded by the mutant GJB2 is expressed in the rodent placenta, which may inhibit glucose transport to the fetus during embryonic period, resulting in embryonic lethality (Gabriel HD, et al. J Cell Biol. 1998) or that the mutant genes were inserted in regions on the genome, where gene expression cannot be expected.
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| Free Research Field |
皮膚科学
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