2021 Fiscal Year Final Research Report
Establishment of an efficient gene testing system for hereditary pigmentation disorders and functional analysis using genome editing technology
Project/Area Number |
18K16046
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Research Category |
Grant-in-Aid for Early-Career Scientists
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Allocation Type | Multi-year Fund |
Review Section |
Basic Section 53050:Dermatology-related
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Research Institution | Yamagata University |
Principal Investigator |
Okamura Ken 山形大学, 医学部, 助教 (40637229)
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Project Period (FY) |
2021-03-01 – 2022-03-31
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Keywords | 遺伝性色素異常症 / 眼皮膚白皮症 / ゲノム編集 / CRISPR/Cas9 |
Outline of Final Research Achievements |
We successfully made up a new system which can screen gene mutations associated with hereditary pigmentation disorders such as oculocutaneous albinism, piebaldism, and dyschromatosis symmetrica hereditaria. This system is based on sequencing by next generation sequencer, thus, we can identify gene mutations rapidly, accurately, and exhaustively. In fact, we could detect rare mutations in patients of which we had failed in gene diagnosis by a previous technique. Furthermore, we clarified the functional meaning of a new gene mutation as well as a part of function of the gene by using a genome-edited mouse model reflecting the genetic conditon of the patient.
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Free Research Field |
色素異常症
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Academic Significance and Societal Importance of the Research Achievements |
遺伝性色素異常症は、皮膚の色素低下や増強以外に症候性(他臓器に合併症を持つ)の場合がある。例えば、症候性眼皮膚白皮症の一つであるHermansky-Pudlak症候群の1型、4型では30歳以降に致死的な間質性肺炎の合併がほぼ必至であり、若年期の臨床所見から病型を推測するのは困難である。残念ながら未だ確立した治療法はないものの、遺伝子診断により今後来しうる合併症の予測が可能となり、個々の病型に応じた適切な患者さんへの指導やフォローアップが可能となる。 さらに、これら原因遺伝子の機能は未解明の部分が多く、その機能解明は、将来の根本的治療法に繋がる架け橋となりうる。
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