Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, USA.
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Adv Exp Med Biol. 2023;1415:303-307. doi: 10.1007/978-3-031-27681-1_44.
Ceramide (Cer) plays an essential role in photoreceptor cell death in the retina. On the one hand, Cer accumulation emerges as a common feature during retina neurodegeneration, leading to the death of photoreceptors. On the other hand, Cer deficiency has also recently been associated with retinal dysfunction and degeneration. Although more and more evidence supports the importance of maintaining Cer homeostasis in the retina, mechanistic explanations of the observed phenotypes, especially in the context of Cer deficiency, are still lacking. An enhanced understanding of Cer's role in the retina will help us explore the underlying molecular basis for clinical phenotypes of retinal dystrophies and provide us with potential therapeutic targets.
神经酰胺（Cer）在视网膜感光细胞死亡中起着至关重要的作用。一方面，Cer 的积累是视网膜神经退行性变过程中的一个常见特征，导致感光细胞死亡。另一方面，最近也有研究表明 Cer 缺乏与视网膜功能障碍和退行性变有关。尽管越来越多的证据支持维持视网膜中 Cer 平衡的重要性，但对观察到的表型的机制解释，特别是在 Cer 缺乏的情况下，仍然缺乏。深入了解 Cer 在视网膜中的作用将有助于我们探索视网膜营养不良临床表型的潜在分子基础，并为我们提供潜在的治疗靶点。
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