July 2019
Volume 60, Issue 9
Free
ARVO Annual Meeting Abstract  |   July 2019
APEX1 as a new candidate gene for glaucoma
Author Affiliations & Notes
  • Paulo Vinicius Svidnicki
    Ophthalmology, Mass Eye and Ear, Boston, Massachusetts, United States
  • Monica B Melo
    University of Campinas, Brazil
  • Jose Paulo C Vasconcellos
    University of Campinas, Brazil
  • Shi Song Rong
    Ophthalmology, Mass Eye and Ear, Boston, Massachusetts, United States
  • Anna Larson
    Ophthalmology, Mass Eye and Ear, Boston, Massachusetts, United States
  • John Simmons Borchert
    Ophthalmology, Mass Eye and Ear, Boston, Massachusetts, United States
  • Janey L Wiggs
    Ophthalmology, Mass Eye and Ear, Boston, Massachusetts, United States
  • Footnotes
    Commercial Relationships   Paulo Svidnicki, None; Monica Melo, None; Jose Paulo Vasconcellos, None; Shi Song Rong, None; Anna Larson, None; John Borchert, None; Janey Wiggs, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 1614. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Paulo Vinicius Svidnicki, Monica B Melo, Jose Paulo C Vasconcellos, Shi Song Rong, Anna Larson, John Simmons Borchert, Janey L Wiggs; APEX1 as a new candidate gene for glaucoma. Invest. Ophthalmol. Vis. Sci. 2019;60(9):1614.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose : To determine if APEX1 gene is a candidate gene for glaucoma. Taking to account that rare variants were found in exome studies in glaucoma patients, one of these variants were even segregating with the disease in an early onset open angle glaucoma family. To do so, we performed functional studies to evaluate the effects of knocking out the APEX1 gene in Zebrafish (Danio rerio).

Methods : Exome sequencing was performed in a Brazilian family with juvenile open-angle glaucoma. Sanger sequencing of 180 non-related glaucoma patients also from Brazil was also performed. Exome chip array of a set of USA glaucoma patients was also verified in search for APEX1 variants. The research followed the principles enounced in the Declaration of Helsinki.
For the functional study, Zebrafish were maintained in accordance to established protocols. The MEEI Animal Committee approved all experiments. APEX1 gene was knocked out using translation blocking morpholino technique.

Results : In total, nine different rare variants in APEX1 were found through Exome and Sanger sequence analysis. Morpholino-induced suppression of APEX1 generated reduced eye size in Zebrafish, besides underdeveloped lens and disorganized layers of the retina. The specificity of the MO was tested and confirmed by co-injection of human APEX1 mRNA.

Conclusions : We have some data that indicate that APEX1 could be involved in glaucoma and/or eye development features. Our studies are yet in progress to evaluate this hypothesis.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×