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

PLoS Biol. 2019 Apr 22;17(4):e3000237. doi: 10.1371/journal.pbio.3000237. eCollection 2019 Apr.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Cytoskeletal Proteins / metabolism*
  • Cytoskeletal Proteins / physiology
  • Eye Proteins / metabolism*
  • Eye Proteins / physiology
  • Glaucoma / metabolism*
  • Glycoproteins / metabolism*
  • Glycoproteins / physiology
  • Humans
  • Mutation
  • Structure-Activity Relationship

Substances

  • Cytoskeletal Proteins
  • Eye Proteins
  • Glycoproteins
  • trabecular meshwork-induced glucocorticoid response protein