Characterization of mitochondrial genetics in patients with age-related macular degeneration (AMD) may lead to personalized medicine approaches to treatment and the identification of novel therapeutic agents, said Baruch D. Kuppermann, MD, PhD, at the inaugural Retina World Congress.
“Although a lot is known about the nuclear genes associated with AMD, more is being learned about the mitochondrial DNA genome and about how the mitochondrial genes can affect nuclear gene expression," said Dr. Kuppermann, professor of ophthalmology and biomedical engineering, University of California, Irvine. "It is our fantasy that the information on relevant mitochondrial gene expression can be used to predict therapeutic outcomes.”
There are a number of reasons for focusing on the mitochondrial genome for insights about treatment of AMD. The first recognizes the importance of the mitochondria for maintaining retinal function.
“The retina has one of the highest oxygen consumption rates in the body and the cells need a lot of energy," Dr. Kupperman said. "We also know that the rods and cones contain numerous mitochondria in their inner segments.”
“It has been well known that reactive oxygen species (ROS) production, apoptosis, and energy production are key to mitochondrial function," he said. "Now, however, we are learning that there is retrograde signaling to the nuclei from the mitochondria, suggesting that targeting the mitochondria is an emerging approach to therapy.”