Investigation of treatment based on analysis between clinical phenotype and DNA repair activity of xeroderma pigmentosum

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K19690
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Kobe University
• Principal Investigator: Nakano Eiji 神戸大学, 医学研究科, 助教 (80734970)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 色素性乾皮症 / DNA修復 / 診断 / 治療

Outline of Final Research Achievements

Xeroderma pigmentosum is autosomal recessive hereditary disease characterized by photosensitivity and predisposing skin cancers in sun-exposed area and it is known that early diagnosis prevent skin cancers. In conventional method, there are some problems such as time-consuming, radioisotope use, skill requiring. We showed flow cytometry based assay had strong correlation with conventional method and succeed quickly diagnosing by analyzing each cell cycle. We established new assay for evaluating DNA repair and demonstrated that is applied to not only as alternative to conventional method but also as screening for candidate of treatment drug or clarifying the pathogenesis by evaluating DNA repair activity at each cell cycle.

Free Research Field

色素性乾皮症