Honors Program Theses

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Open Access Honors Program Thesis

First Advisor

Jim Demastes

Abstract

Mitochondrial diseases are a diverse group of genetic disorders that impair cellular energy production, often leading to multisystem complications, including vision loss. This thesis explores how mitochondrial dysfunction impacts ocular health, with an emphasis on Leber Hereditary Optic Neuropathy (LHON), a disorder caused by point mutations in mitochondrial DNA affecting Complex I of the oxidative phosphorylation pathway. Through an extensive literature review, this research examines the mechanisms by which mitochondrial mutations damage retinal ganglion cells and evaluates current and emerging treatment approaches. Pharmacological therapies, such as idebenone and other quinone analogs, demonstrate limited but promising results in stabilizing early-stage vision loss. Gene therapy, particularly using allotopic expression and viral vector delivery systems has shown modest visual recovery in clinical trials. Stem cell–based strategies and mitochondrial donation techniques represent additional avenues of research, offering potential long-term solutions for both treatment and prevention. While no definitive cure currently exists for mitochondrial-related visual disorders, combining pharmaceutical, genetic, and regenerative approaches offers a promising framework for future research.

Year of Submission

2025

Department

Department of Biology

University Honors Designation

A thesis submitted in partial fulfillment of the requirements for the designation University Honors

Date Original

2025

Object Description

1 PDF file (25 pages)

Language

en

File Format

application/pdf

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