jill butler napieralaAssistant Professor

Research Areas
Molecular mechanisms of Friedreich’s ataxia


Research Interests

My research efforts are devoted to defining molecular mechanisms underlying the most commonly inherited ataxia in humans, Friedreich’s ataxia (FRDA).FRDA is a severe and progressive neurodegenerative disease that is caused by reduced expression of the Frataxin (FXN) gene. The majority of FRDA patients carry homozygous GAA repeat expansions in intron 1 of the FXN gene, while a fraction of patients are compound heterozygotes with an expanded GAA repeat sequence in one allele and a missense or nonsense mutation in the other. The most common result of both types of lesions is lower levels of Frataxin, a mitochondrial protein involved in iron sulfur cluster synthesis. FRDA affects multiple organ systems and currently there is no cure for this disease nor are there approved drugs to treat the symptoms or prolong longevity for FRDA patients.

Currently, my research focuses on:

  1. Specifying gene expression patterns unique to FRDA in order to identify novel therapeutic targets and disease biomarkers
  2. Modulating the expression and activity of mitochondrial aldehyde dehydrogenases to inhibit neurodegeneration in FRDA cell line and animal models
  3. Defining the pathogenic role of the Frataxin G130V missense mutation in FRDA
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Mawi DNA Technologies: [http://www.mawidna.com/university-of-alabama-utilizes-mawisbuccal-cells-collection-device-iswab-protein-for-the-detection-of-the-mitochondrial-proteinfrataxin/] (2016)

Friedreich’s Ataxia Research Alliance: [http://www.curefa.org/news/uab-researchersreceive-funding-to-seek-biomarkers-in-friedreich-s-ataxia?highlight=WyJidXRsZXIiXQ] (2015)

Friedreich’s Ataxia News: [http://friedreichsataxianews.com/2015/05/01/researcherspropose-novel-mechanism-for-the-treatment-of-friedreichs-ataxia/] (2015)

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Education

Graduate School
Ph.D., Indiana University

Postdoctoral Fellowship
University of Texas MD Anderson Cancer Center

Contact

Office
Shelby Biomedical Research Building
Room 731
1825 University Blvd.
Birmingham, AL 35294-2182

Phone
(205) 975-5335

Email
jsbutler@uab.edu