The Role of Mitochondrial Dysfunction in Age-Related Macular Degeneration

Principal Investigator

The Jackson Laboratory
Bar Harbor, ME
Recipient of the 2023 Helen Juanita Reed Award for Macular Degeneration Research


  • Patsy  Nishina, PhD

    Patsy Nishina, PhD

Project Goals

The aim of this project is to clarify the effect of a risk-related gene on mitochondrial dysfunction and fat processing in age-related macular degeneration.

Project Summary

A protein strongly associated with age-related macular degeneration may lead to increased disease risk through dysfunction of the mitochondria, which package usable energy for the cell. The protein, called age-related maculopathy susceptibility 2 or ARMS2, occurs in different forms, some of them especially linked to risk for the disease. The protein effects that underlie that risk are unclear, however. 

Navdeep Gogna, PhD, and her colleagues plan to address this question using lab models of age-related macular degeneration that bear human-like characteristics of the disease. Early results already implicate the involvement of the mitochondria and how cells process fats, which are important for retinal health and function. 

In addition to using their innovative lab model of the disease, Dr. Gogna and her coworkers will apply sophisticated molecular profiling tools to track how cells process fats and whether specific features related to ARMS2 activity affect this processing. 

Their work will yield new understanding as the first investigation of how a specific form of ARMS2 influences mitochondrial function and fat processing. Uncovering how ARMS2 leads to vulnerability to age-related macular degeneration could in turn lead to new treatment targets for the disease.


First published on: September 25, 2023

Last modified on: July 16, 2024