University of Notre Dame
Browse

Deciphering the Effects of Frataxin Deficiency During Embryogenesis

dataset
posted on 2025-04-03, 17:43 authored by Wesley Ercanbrack
Friedreich’s Ataxia (FRDA) is caused by an exonic GAA repeat expansion mutation that reduces the expression of the mitochondrial protein Frataxin (FXN). It is thought that this results in metabolic dysregulation and the accumulation of reactive oxygen species (ROS). However, important questions remain, specifically concerning FXN’s roles during embryonic development. We used morpholinos and CRISPR/Cas9 to study the effects of Fxn deficiency on embryogenesis. fxn-deficient zebrafish in both genetic models have increased cell death in the central nervous system. Additionally, both models have stunted renal development and reduced kidney function, though it was more severe in the morphant model. These studies demonstrate that Fxn is essential for the morphogenesis of several embryonic tissues. This new model has the potential to help identify novel treatments for FRDA.

History

Date Created

2025-03-24

Date Modified

2025-04-03

Defense Date

2025-03-12

CIP Code

  • 26.0101

Research Director(s)

Rebecca Ann Wingert Ph.D.

Committee Members

Ana Flores Mireles Zach Schafer Molly Scheel

Degree

  • Doctor of Philosophy

Degree Level

  • Doctoral Dissertation

Language

  • English

Library Record

006693291

OCLC Number

1513126341

Publisher

University of Notre Dame

Additional Groups

  • Biological Sciences

Program Name

  • Biological Sciences

Usage metrics

    Dissertations

    Categories

    No categories selected

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC