用DNA甲基化抑制剂改善丹恩病的X相关自失败
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.).
丹恩病是一种影响心脏的遗传性疾病,由于X染色体不活化,女性的严重程度各不相同. 用DNA甲基化抑制剂在患者细胞中重新激活健康的LAMP2基因改善了细胞功能,提供了潜在的治疗策略.
科学领域:
- 遗传学
- 干细胞生物学
- 心脏病学
背景情况:
- 丹恩病是一种X关联性疾病,由于 lysosome相关膜蛋白-2 (LAMP2) 缺乏,导致致命的心肌病.
- 由于随机的X染色体失活,女性患者表现出较轻微的症状,可能保留一个功能性的LAMP2等位基因.
更多相关视频
06:07Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
Published on: August 5, 2022
05:16Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
相关概念视频
Epigenetic Regulation
X-chromosome...
Epigenetic Regulation
