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Analysis of the Genetic Variants Associated with Fabry Disease

Chenqi, Aoxue (2022) Analysis of the Genetic Variants Associated with Fabry Disease. Master Essay, University of Pittsburgh.

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Fabry Disease is a lysosomal storage disorder involving the dysfunction of the GLA (galactosidase alpha) gene, and follows an X-linked inheritance pattern with varying incidence rates in populations. The GLA gene is responsible for producing the enzyme alpha-galactosidase A, which breaks down a glycosphingolipid known as globotriaosylceramide, also known as Gb3. Thus, with a dysfunctional GLA gene, Gb3 builds up in the host’s body and leads to complications in the heart, kidney, gastrointestinal tract, and ultimately death. As current treatments for Fabry Disease are extremely expensive and impractical in the long term, studies have been performed to look into the molecular mechanisms behind the disease to provide further insight on how to better treat the disease. For my study, I used a sample of 50 patients, provided by PerkinElmer’s Lantern Project, a program designed to provide diagnostic testing for various lysosomal storage disorders and limb-girdle muscular dystrophies (LGMDs), to observe the types of variants produced, the enzyme and biomarker levels, and classification of pathogenicity. I found that there was one specific variant, c.679 C>T, that appeared the most often compared to other variants, that there was a weak negative association between enzyme levels and biomarker levels, and that those who had higher than normal biomarker levels were more likely to be labeled as likely pathogenic or pathogenic. My findings align with previous studies and conclude that there are specific variants associated with Fabry Disease that have certain implications, which may urge us to focus on specific genetic regions when looking into developing treatments.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Chenqi, Aoxueaoc7@pitt.eduaoc7
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairMcCarty, Andrewandrew.mccarty@clovergenetics.comUNSPECIFIEDUNSPECIFIED
Committee MemberBortey-Sam, Nestaneb60@pitt.eduneb60UNSPECIFIED
Date: 12 May 2022
Date Type: Completion
Number of Pages: 46
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
Date Deposited: 12 May 2022 17:11
Last Modified: 12 May 2022 17:11


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