Faculty Mentor

Dr. Elaine Vanterpool

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Description

Glaucoma is a neurodegenerative eye disorder that can cause vision loss or permanent blindness due to damage in the optic nerve. Research has helped identify various genetic variants associated with this disease, including TBK1 (TANK-binding kinase 1). TBK1encodes for an enzyme serine/threonine which plays a role in innate immunity antiviral responses. This enzyme helps the immune system fight off infections by turning on specific signals in the body like IRF3/7 and NF-kB which regulate cytokine production and inflammatory response. Beyond immunity TBK1 is involved in crucial cellular processes including autophagy, mitochondrial energy production and cellular proliferation. TBK1 was linked to glaucoma when duplications were discovered, leading to an excess of genetic material that may contribute to disease progression. Mutations in TBK1are thought to impact the optic nerve by increasing autophagy which can trigger retinal ganglion cell death leading to glaucoma. Specific mechanisms in which TBK1 affects intraocular pressure have not fully been understood in the role it plays in glaucoma. However, studies suggest TBK1 plays a role in regulating apoptosis in retinal ganglion cells, but further research is needed to clarify its full impact on glaucoma. TBK1 is not only linked in Glaucoma it has been associated with other diseases including Encephalopathy, Acute, Infection-Induced, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis 4, and carcer. In cancer TBK1 plays a role in triggering immune responses. TBK1 has been associated with the spread of cancer after radiation therapy and damages proteins that help cancer cells adapt and migrate. Similarly, in glaucoma, TBK1 may drive disease progression through its effects on autophagy. In addition, TBK1 research is important for understanding and treating glaucoma as an incurable disease. By identifying various factors of specific genes linked to this disease, we can explore ways to prevent its inheritance. Understanding how glaucoma works can help find cures or help slow progression to prevent blindness in individuals. Furthermore, studying TBK1 can help reveal its role in other diseases by contributing to the development of cures for those conditions as well. In conclusion, further research can help develop new treatments, prevent individuals from inheriting this disease, develop methods and cures to prevent this disease from being mutated in the body.

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Kelli-An Kindell, Student Researcher

Genetic Insights into Glaucoma: The Impact of TKB1 Mutations on Glaucoma

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Biology Commons

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