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LOXL1 folding in exfoliation glaucoma.

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Exfoliation syndrome (XFS) is linked to LOXL1 protein aggregation. Impaired cellular processes in aging exacerbate this buildup, leading to XFS and glaucoma (XFG).

Keywords:
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Area of Science:

  • Ophthalmology
  • Genetics
  • Cell Biology

Background:

  • Exfoliation syndrome (XFS) involves extracellular matrix deposition in the eye.
  • Genetic variants in lysyl oxidase-like 1 (LOXL1) increase XFS risk but aren't solely causative.
  • XFS/glaucoma (XFG) cells show cellular defects similar to neurodegenerative diseases.

Purpose of the Study:

  • Investigate the role of LOXL1 protein aggregation in XFS pathogenesis.
  • Explore the link between LOXL1 aggregation and cellular proteostasis decline in aging.
  • Determine if LOXL1's intrinsically disordered regions (IDRs) contribute to aggregation.

Main Methods:

  • Analyzed XFG patient-derived cells for LOXL1 aggregation and autophagic clearance.
  • Performed in silico analysis of LOXL1 protein structure, focusing on IDRs.
  • Conducted experiments over-expressing LOXL1 variants to assess aggregation propensity.

Main Results:

  • LOXL1 protein undergoes autophagic clearance in XFG cells, indicating aggregation.
  • In silico analysis identified a significant intrinsically disordered region (IDR) in LOXL1.
  • Over-expression of LOXL1, particularly its N-terminus, induced substantial intracellular aggregation.

Conclusions:

  • LOXL1 protein aggregation, driven by its IDRs, is a key factor in XFS/G.
  • Reduced cellular proteostasis in aging exacerbates LOXL1 aggregation, leading to XFS/G.
  • LOXL1 aggregation contributes to the chronic build-up of protein aggregates in XFS/G.