# Investigating the Action and Physiological Role of Slc4a11 in the Cornea

> **NIH NIH R01** · STATE UNIVERSITY OF NEW YORK AT BUFFALO · 2024 · $393,662

## Abstract

Project Summary/Abstract
 Fuchs Endothelial Corneal Dystrophy (FECD) is a major cause of vision loss and a leading indication for
corneal transplantation. A healthy corneal endothelial cell layer pumps fluid out of the corneal stroma to maintain
the optimal hydration state for corneal transparency. Late-onset FECD is caused by loss of endothelial function
and is linked to dominant inheritance of mutations in several genes including SLC4A11. SLC4A11 encodes an
endothelial H+ transporter. The development of non-invasive therapies for older individuals to prevent or delay
FECD onset would obviate the need for transplants. However, therapeutic advances have been hindered by a
lack of understanding of the molecular mechanisms that underlie onset of this complex disease and a lack of
suitable and diverse animal models for developing and testing therapies. To address both issues, a transgenic
mouse-line has been generated that carries the dominant human FECD mutant Trp240Ser (W240S) in its
SLC4A11 gene. W240S heterozygous mice develop edema and signs of reduced antioxidant capacity, but not
diagnostic guttae. The hypothesis of this study is that these mice are more susceptible to oxidative stress and
will model FECD upon UVA-light exposure. There are two aims [1] Examine the molecular consequences of the
W240S mutation on endothelial health. [2] Examine the link between SLC4A11 mutation and phenotype. The
proposed research is both significant and innovative because it the first genetic mouse model that recreate signs
of late-onset FECD and uses novel tools and a multidisciplinary approach that will inform the development of
new early-diagnostic, risk-scoring, and therapeutic approaches for FECD.

## Key facts

- **NIH application ID:** 10918260
- **Project number:** 5R01EY028580-07
- **Recipient organization:** STATE UNIVERSITY OF NEW YORK AT BUFFALO
- **Principal Investigator:** Mark Parker
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $393,662
- **Award type:** 5
- **Project period:** 2018-02-01 → 2028-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10918260

## Citation

> US National Institutes of Health, RePORTER application 10918260, Investigating the Action and Physiological Role of Slc4a11 in the Cornea (5R01EY028580-07). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10918260. Licensed CC0.

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