2011 Fiscal Year Final Research Report
Gene analysis of epidermal gap junction and pathological search for palmoplantar hyperkeratosis associated with hearing impairments
| Project/Area Number |
23659542
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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 | Chiba University |
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Principal Investigator |
KAMBE Naotomo 千葉大学, 大学院・医学研究院, 准教授 (50335254)
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| Co-Investigator(Kenkyū-buntansha) |
MATSUE Hiroyuki 千葉大学, 大学院・医学研究院, 教授 (10250424)
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| Co-Investigator(Renkei-kenkyūsha) |
KAMADA Noriaki 千葉大学, 大学院・医学研究院, 講師 (00334186)
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| Project Period (FY) |
2011
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| Keywords | 皮膚病理学 / 角化症 |
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| Research Abstract |
We have experienced a mother and her son suffering from palmoplantar hyperkeratosis with hearing impairments and also some unrelated patients. Even though they showed clinical symptoms identified to be almost same as the reported cases with mutations within mitochondria DNA or Connexin (Cx) genes coding of gap junctions, we cannot found any mutations in those reported genes. In conventional 2D culture condition of keratinocytes, no significant differences were observed between patient- derived and control cells in proliferation and differentiation. Even in 3D culture system, any impairments in patient- derived cells and significant difference in Cx gene expression were not observed.
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