口服左旋多巴可挽救人类白化病小鼠模型的视网膜形态和视觉功能。
Oral levodopa rescues retinal morphology and visual function in a murine model of human albinism.
机构信息
Clinical and Experimental Sciences, Faculty of Medicine, Sir Henry Wellcome Laboratories, Southampton University Hospital, University of Southampton, Southampton, UK.
Eye Unit, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
出版信息
Pigment Cell Melanoma Res. 2019 Sep;32(5):657-671. doi: 10.1111/pcmr.12782. Epub 2019 Apr 2.
Abstract
Albinism is a group of disorders characterized by pigment deficiency and abnormal retinal development. Despite being a common cause for visual impairment worldwide, there is a paucity of treatments and patients typically suffer lifelong visual disability. Residual plasticity of the developing retina in young children with albinism has been demonstrated, suggesting a post-natal window for therapeutic rescue. L-3, 4 dihydroxyphenylalanine (L-DOPA), a key signalling molecule which is essential for normal retinal development, is known to be deficient in albinism. In this study, we demonstrate for the first time that post-natal L-DOPA supplementation can rescue retinal development, morphology and visual function in a murine model of human albinism, but only if administered from birth or 15 days post-natal age.
摘要
白化病是一组以色素缺乏和视网膜发育异常为特征的疾病。尽管白化病是全球范围内导致视力障碍的常见原因，但目前缺乏有效的治疗方法，患者通常会终身遭受视力残疾。患有白化病的幼儿的发育中视网膜具有残余可塑性，这表明存在治疗性挽救的产后窗口期。L-3,4-二羟基苯丙氨酸（L-DOPA）是一种关键的信号分子，对正常的视网膜发育至关重要，已知在白化病中缺乏。在这项研究中，我们首次证明，产后 L-DOPA 补充可以挽救人类白化病小鼠模型的视网膜发育、形态和视觉功能，但前提是必须从出生或出生后 15 天开始补充。
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