思春期特発性側弯症関連遺伝子LBX1の機能解析

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Author: 今林, 英明ほか

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Publication date: 2021

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Note (General)：: type:textLBX1遺伝子は，ヒト思春期突発性側弯症の発症と最も相関のある一塩基多型の近傍に局在する遺伝子である．本研究では，骨格筋特異的にLBX1遺伝子を欠失した遺伝子改変マウスを作成し，その表現型解析を行った．その結果，本マウスでは，前肢が低形成であり，加齢とともに脊椎の後弯が野生型マウス...

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Material Type: 文書・図像類
Title: 思春期特発性側弯症関連遺伝子LBX1の機能解析
Author/Editor: 今林, 英明
堀内, 圭輔
松橋, 優介
中川, 敬博
Author Heading: 今林, 英明
堀内, 圭輔
松橋, 優介
中川, 敬博
Publication Date: 2021
Publication Date (W3CDTF): 2021
Alternative Title: シシュンキトクハツセイソクワンショウカンレンイデンシ LBX1 ノキノウカイセキ
Shishunki tokuhatsusei sokuwanshō kanren idenshi LBX1 no kinō kaiseki
Investigation of the potential involvement of LBX1 in the development of adolescent idiopathic scoliosis
Periodical title: 科学研究費補助金研究成果報告書
Text Language Code: jpn
eng
Subject Heading: LBX1,脊柱変形,マウスモデル,思春期突発性側弯症
Target Audience: 一般
Note (General): type:text
LBX1遺伝子は，ヒト思春期突発性側弯症の発症と最も相関のある一塩基多型の近傍に局在する遺伝子である．本研究では，骨格筋特異的にLBX1遺伝子を欠失した遺伝子改変マウスを作成し，その表現型解析を行った．その結果，本マウスでは，前肢が低形成であり，加齢とともに脊椎の後弯が野生型マウスに比較して進行することが明らかとなった．また，興味深いことに，本遺伝子改変マウスは肥満抵抗性であり，エネルギー代謝が亢進していることが明らかとなった．これらの知見からLBX1の機能不全は，体組成の変化を誘導し，その結果間接的に脊柱側弯症の発生リスクを増加させると示唆された． LBX1 is a gene located near a single nucleotide polymorphism that is highly associated with susceptibility to adolescent idiopathic scoliosis. However, the potential involvement of LBX1 in the etiology of this spinal deformity has not been elucidated. In this study, we aimed to determine whether the lack of LBX1 in skeletal muscle results in spinal deformities in mice. We generated mutant mice in which the Lbx1 allele was conditionally excised under the control of a human muscle actin promoter. Mice lacking LBX1 from the skeletal muscle were fertile and available. The mutant mice had hypoplastic forelimbs and weighed less than control animals, but otherwise, there were no overt anomalies. The mice did not exhibit a scoliosis-like spinal deformity; however, they developed moderate kyphosis as they grew old. These observations indicated that LBX1 is involved in limb development and potentially in the maintenance of spinal alignment in mice.
研究種目 : 基盤研究 (C) (一般) 研究期間 : 2019～2021 課題番号 : 19K09660 研究分野 : 整形外科学
Access Restrictions: 限定公開
Related Material: 科研費研究者番号 : 40296629
科研費研究者番号 : 30327564
Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
https://irdb.nii.ac.jp
Original Data Provider (Database): 慶應義塾大学 : 慶應義塾大学学術情報リポジトリ