How does a protein's structure spell the difference between health and disease? Our journey to understand glaucoma-associated myocilin.

TitleHow does a protein's structure spell the difference between health and disease? Our journey to understand glaucoma-associated myocilin.
Publication TypeJournal Article
Year of Publication2019
AuthorsLieberman, RL
JournalPLoS Biol
Volume17
Issue4
Paginatione3000237
Date Published2019 Apr
ISSN1545-7885
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.

1
DOI10.1371/journal.pbio.3000237
Alternate JournalPLoS Biol.
PubMed ID31009450