论文标题

小鼠青光眼创世纪的RNA测序分析

An RNA Sequencing Analysis of Glaucoma Genesis in Mice

论文作者

Sharma, Jai, Bhaskar, Vidhyacharan

论文摘要

青光眼是60岁以上人群不可逆转的失明的主要原因,占2010年所有失明的6.6至8%,但有关眼科疾病的遗传起源仍然有很多了解。随着下一代测序(NGS)技术的现代发展,科学家们开始更多地了解青光眼的遗传起源。这项研究使用差异表达(DE)和基因本体论(GO)分析来研究严重青光眼和多个对照组的小鼠之间的遗传差异。来自NCBI(NIH)的全基因组RNA表达的光学神经头(ONH)和视网膜数据样本用于成对比较实验。此外,采用主成分分析(PCA)和色散可视化方法来执行测序数据的质量控制测试。还鉴定出具有偏斜基因计数的基因,因为它们可能是特殊的青光眼严重程度的标记基因。该实验中发现的基因本体学支持了青光眼起源的现有知识,从而确信结果有效。未来的研究人员可以彻底研究DE生成的基因列表,并进行GO分析,以找到小鼠青光眼的潜在激活因子或保护因子基因,以开发药物治疗或基因疗法以减慢或停止疾病的进展。总体目标是,将来可以对人类进行此类治疗,以改善青光眼患者的生活质量并降低青光眼失明率。

Glaucoma is the leading cause of irreversible blindness in people over the age of 60, accounting for 6.6 to 8% of all blindness in 2010, but there is still much to be learned about the genetic origins of the eye disease. With the modern development of Next-Generation Sequencing (NGS) technologies, scientists are starting to learn more about the genetic origins of Glaucoma. This research uses differential expression (DE) and gene ontology (GO) analyses to study the genetic differences between mice with severe Glaucoma and multiple control groups. Optical nerve head (ONH) and retina data samples of genome-wide RNA expression from NCBI (NIH) are used for pairwise comparison experimentation. In addition, principal component analysis (PCA) and dispersion visualization methods are employed to perform quality control tests of the sequenced data. Genes with skewed gene counts are also identified, as they may be marker genes for a particular severity of Glaucoma. The gene ontologies found in this experiment support existing knowledge of Glaucoma genesis, providing confidence that the results were valid. Future researchers can thoroughly study the gene lists generated by the DE and GO analyses to find potential activator or protector genes for Glaucoma in mice to develop drug treatments or gene therapies to slow or stop the progression of the disease. The overall goal is that in the future, such treatments can be made for humans as well to improve the quality of life for human patients with Glaucoma and reduce Glaucoma blindness rates.

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