DNAメチル化阻害剤によるダノン病におけるX関連自己消化障害の改善
Kwong-Man Ng1, Pamela Y Mok1, Amy W Butler1
1From Cardiology Division, Department of Medicine (K.-M.N., J.C.Y.H., Y.-K.L., W.-H.L., K.-W.A., Y.-M.L., L.-Y.W., C.-W.S., H.-F.T.) and Department of Psychiatry (A.W.B., S.-W.C., P.C.S., A.C.), Queen Mary Hospital, Research Center of Heart, Brain, Hormone and Healthy Aging, Li Ka Shing Faculty of Medicine (K.-M.N, C.W.-S., H.-F.T.), Hong Kong-Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine (M.A.E., H.-F.T.), Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine (P.C.S.), State Key Laboratory for Cognitive and Brain Sciences, Li Ka Shing Faculty of Medicine (P.C.S.), and Shenzhen Institutes of Research and Innovation (H.-F.T.), University of Hong Kong, Hong Kong SAR, China; Stem Cell Disease Models, A*STAR Institute of Medical Biology, Singapore (P.Y.M.); MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK (A.W.B.); and Key Laboratory of Regenerative Biology of the Chinese Academy of Sciences and Guangdong Provincial Key Laboratory of Stem Cells and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Guangzhou, China (M.A.E.).
ダノン病は,X染色体不活性化により,心臓に影響する遺伝的疾患で,女性では重度が異なる. 健康なLAMP2遺伝子を患者細胞にDNAメチル化阻害剤で再活性化することで,細胞機能が改善され,潜在的な治療戦略が提供されました.
科学分野:
- 遺伝学
- 幹細胞生物学
- 心臓病科
背景:
- ダノン病は,リソソーム関連膜タンパク質-2 (LAMP2) 欠乏による致死性心筋病を引き起こすX関連疾患である.
- 女性患者は,ランダムなX染色体不活性化により,機能的なLAMP2アレルを保持する可能性があるため,より軽度の症状を発症します.
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Epigenetic Regulation
X-chromosome...
Epigenetic Regulation
