2013 Fiscal Year Final Research Report
Preparation for the basis of searching for activated autoinflammatory signals in intractable chronic inflammatory disorders
| Project/Area Number |
23591651
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Multi-year Fund |
|---|
| Section | 一般 |
|---|
| Research Field |
Dermatology
|
|---|
| Research Institution | Wakayama Medical University |
|---|
Principal Investigator |
KANAZAWA Nobuo 和歌山県立医科大学, 医学部, 講師 (90343227)
|
|---|
| Project Period (FY) |
2011 – 2013
|
| Keywords | 皮膚炎症・再生学 |
|---|
| Research Abstract |
To identify dysregulated inflammatory signals due to genetic mutations by analyzing rare hereditary autoinflammatory disorders, and to apply the detection of their involvement in intractable chronic inflammatory disorders for clarification of the pathophysiology and development of tailor-made therapeutics for these disorders, abnormal cellular functions were sought in Nakajo-Nishimura syndrome in which a PSMB8 mutation was identified, generalized pustular psoriasis in which a novel IL36RN mutation was identified, and late-onset primary immunodeficiency in which a novel LIG4 mutation was identified. Furthermore, exome sequencing and search for expected dysregulation of inflammatory signals were performed in cases suspected to be suffering from novel hereditary autoinflammatory diseases. Although the original aim has not been achieved, progress in the clarification of dysregulated inflammatory signals in hereditary inflammatory disorders will lead to further development of the study.
|
