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Adeno-associated virus (AAV)-mediated in vitro delivery of functional TYR gene for OCA1 gene therapy

Jacobson, Elise (2024) Adeno-associated virus (AAV)-mediated in vitro delivery of functional TYR gene for OCA1 gene therapy. Master's Thesis, University of Pittsburgh. (Unpublished)

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Oculocutaneous albinism type 1 (OCA1) is a hypopigmentation disorder caused by biallelic loss of functional variants in the tyrosinase (TYR) gene. Gene augmentation therapies often
utilize adeno-associated viral (AAV) vectors to deliver non-mutated minigenes for immediate and
long-lasting rescue of the gene function and phenotype. This study follows this template for a
proof-of-concept assessment, creating an AAV2-derived 7m8 capsid virus containing a functional
TYR gene cargo and infecting HEK293 cells in vitro for gene transfer and expression analysis. Overall, results showed an effective 2.1-fold higher upregulation of TYR in infected cells in comparison to untreated wild-type cells, confirming the successful delivery of the functional gene via an AAV vector. Current and potential delivery and treatment methods are also evaluated, as they are widely versatile and show promising potential for albinism and other inherited diseases.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Jacobson, Eliseemj80@pitt.eduemj80
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairByrne, Leahlbyrne@pitt.edulbyrne
Committee MemberUrban, Zsolturbanz@pitt.eduurbanz
Committee MemberDiergaarde, Brendabbd3@pitt.edubbd3
Date: 14 May 2024
Date Type: Publication
Defense Date: 10 April 2024
Approval Date: 14 May 2024
Submission Date: 23 April 2024
Access Restriction: 1 year -- Restrict access to University of Pittsburgh for a period of 1 year.
Number of Pages: 34
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Oculocutaneous albinism, OCA1, gene therapy, tyrosinase, retina, melanin
Date Deposited: 14 May 2024 19:10
Last Modified: 14 May 2024 19:10


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