关键词: Anterior segment dysgenesis Genetics, Molecular mechanism

Mesh : Child Humans Anterior Eye Segment / metabolism Eye Abnormalities / genetics metabolism Transcription Factors / genetics Molecular Biology

来  源:   DOI:10.1016/j.exer.2023.109603

Abstract:
Anterior segment dysgenesis is a severe developmental eye disorder that leads to blindness in children. The exact mechanisms underlying this condition remain elusive. Recently, an increasing amount of studies have focused on genes and signal transduction pathways that affect anterior segment dysgenesis;these factors include transcription factors, developmental regulators, extracellular matrix genes, membrane-related proteins, cytoskeleton proteins and other associated genes. To date, dozens of gene variants have been found to cause anterior segment dysgenesis. However, there is still a lack of effective treatments. With a broader and deeper understanding of the molecular mechanisms underlying anterior segment development in the future, gene editing technology and stem cell technology may be new treatments for anterior segment dysgenesis. Further studies on the mechanisms of how different genes influence the onset and progression of anterior segment dysgenesis are still needed.
摘要:
前段发育不全是一种严重的发育性眼部疾病,可导致儿童失明。这种情况的确切机制仍然难以捉摸。最近,越来越多的研究集中在影响眼前段发育不全的基因和信号转导途径上;这些因素包括转录因子,发展调节剂,细胞外基质基因,膜相关蛋白,细胞骨架蛋白和其他相关基因。迄今为止,已发现数十种基因变异导致前节发育不全。然而,仍然缺乏有效的治疗方法。随着对未来眼前节发育的分子机制的更广泛和更深入的了解,基因编辑技术和干细胞技术可能是治疗眼前节发育不全的新方法。仍需要进一步研究不同基因如何影响眼前节发育不全的发生和发展的机制。
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