2013 Fiscal Year Final Research Report
Elucidation of pathogenesis and development of novel therapy of chilblain lupus on the basis of an exonuclease enzyme
| Project/Area Number |
24659526
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Dermatology
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| Research Institution | Nagoya University |
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Principal Investigator |
AKIYAMA Masashi 名古屋大学, 医学(系)研究科(研究院), 教授 (60222551)
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| Project Period (FY) |
2012-04-01 – 2013-03-31
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| Keywords | 家族性凍瘡状狼瘡 / 凍瘡状狼瘡 / 核酸分解酵素 / TREX1 / 遺伝子変異解析 / DNA切断実験 |
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| Research Abstract |
A Japanese female patient of chilblain lupus followed by us has family history of chilblain lupus which is considered autosomal dominant trait. The onset of chilblain lupus of the patient was 1 year-old. She shows skin ulcers on the bilateral fingers and nose, and has contraction of finger joints. Direct sequencing of all coding exons and exon-intron boundaries of TREX1 and SAMHD1 was conducted. The patient had a novel heterozygous missense TREX1 c.394C>G (p.Pro132Ala) mutation. in vitro 3 prime single stranded DNA exonuclease assay revealed that TREX1 p.Pro132Ala had dysfunction of enzyme activity. Taken together, we found familial chilblain lupus due to TREX1 dysfunction in Japan for the first time.
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Author(s)
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Journal Title
J Dermatol Sci
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