Abstract
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.
Highlights
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
Any changes in the amino acid sequence of a protein can lead to structural changes to proteins or enzymes
Summary
The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
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