School of Chemistry and Biochemistry, Georgia Institute of Technology, Atlanta, Georgia, United States of America.
PLoS Biol. 2019 Apr 22;17(4):e3000237. doi: 10.1371/journal.pbio.3000237. eCollection 2019 Apr.
Over 20 years ago, alterations to the protein myocilin were confirmed to be linked to a heritable form of the prevalent eye disease, glaucoma, and 10 years ago, my lab set out to develop a deeper understanding of myocilin in its normal and diseased state. We have made strides in understanding how genetic mutations in myocilin likely lead to disease, but unlocking myocilin's biological function is still an elusive goalpost. Is normal myocilin unimportant in the human body? Are scientists using the wrong methods to study myocilin biology? Here, I discuss my scientific journey into understanding one small part of the fascinating organ that is the eye.
20 多年前,人们证实肌球蛋白蛋白的改变与一种常见眼病——青光眼的遗传性形式有关,10 年前,我的实验室着手深入了解正常和患病状态下的肌球蛋白。我们在了解肌球蛋白基因突变如何导致疾病方面取得了进展,但要揭示肌球蛋白的生物学功能仍然是一个难以捉摸的目标。正常的肌球蛋白在人体中不重要吗?科学家们是否在用错误的方法研究肌球蛋白的生物学?在这里,我将讨论我在理解眼睛这一迷人器官的一小部分的科学之旅。