Booze, Grace
(2024)
Genetic Variants Associated with Herpes-Induced Encephalitis: A Review.
Master Essay, University of Pittsburgh.
Abstract
Human herpesviruses (HHV) are common viruses that have been infecting humans for centuries, usually with minor complications. Rarely, the virus can invade the central nervous system (CNS) and cause viral encephalitis. Viral encephalitis is a dangerous form of brain inflammation that manifests itself as seizures, unconsciousness, paralysis, fever, neuronal cell death, and in the most extreme cases, death of the patient. Owing to recent advances in the field of genetics and genomics, a body of literature has been growing concerning the genetic variants associated with the development of herpes-induced encephalitis, therefore there is a need for an updated review on the genetics of this condition to summarize the current findings, reveal common patterns and potentially shared mechanisms, and discuss the gaps in current knowledge and future directions, with the goals of providing updated information to clinicians, researchers, and public health professionals. This review first describes the etiology and epidemiology of the disease, emphasizing the need for a globally recognized case definition. Next, it describes pathways of the immunological response relevant to genetic susceptibility to herpes-induced encephalitis. The review then documents various case studies where genetic variants were identified and characterized as related to relevant immune pathways/genes. The review separates the genetic variants by molecular function of the affected genes, including kinases, transcription factors, transmembrane proteins and interacting molecules, non-coding RNAs, and members of the complement system. Based on the current findings, the implicated variants primarily cause autosomal recessive or dominant deficiencies, and the implicated genes predominantly impair the innate immune response, especially the type I interferon system, which is an important contributor to anti-viral immunity. Finally, the review concludes by discussing the public health relevance of current findings and future directions, including a need for greater surveillance of all herpes-induced encephalitis cases for inborn errors of immunity, regardless of disease severity, through the use of genetic sequencing technologies, and the development of an accessible biobank to promote further research and global health equity.
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Details
| Item Type: |
Other Thesis, Dissertation, or Long Paper
(Master Essay)
|
| Status: |
Unpublished |
| Creators/Authors: |
|
| Contributors: |
| Contribution | Contributors Name | Email | Pitt Username | ORCID  |
|---|
| Committee Chair | Demirci, F. Yesim | fyd1@pitt.edu | fyd1 | UNSPECIFIED | | Committee Member | Hartman, Amy | hartman2@pitt.edu | hartman2 | UNSPECIFIED |
|
| Date: |
17 May 2024 |
| Date Type: |
Completion |
| Submission Date: |
24 April 2024 |
| Access Restriction: |
2 year -- Restrict access to University of Pittsburgh for a period of 2 years. |
| Number of Pages: |
54 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Public Health > Human Genetics |
| Degree: |
MPH - Master of Public Health |
| Thesis Type: |
Master Essay |
| Refereed: |
Yes |
| Uncontrolled Keywords: |
Herpesviruses, encephalitis, mutations, genetic variants |
| Date Deposited: |
17 May 2024 21:11 |
| Last Modified: |
17 May 2024 21:11 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/46286 |
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