Molecular Genetics

Friedreich ataxia (FRDA) is an autosomal recessive disorder caused by a trinucleotide GAA repeat expansion in intron 1 of the FXN gene. Because the protein Frataxin, which is encoded by the FXN gene, is involved in proper mitochondrial function and thus energy production, decreased cellular levels of Frataxin causes patients to experience decreased muscle coordination and diabetes, with a majority of the patients succumbing to heart failure. Why the expanded GAA repeats cause decreased FXN expression remains unclear. One possible explanation for the decreased expression is hypermethylation of the FXN gene. We aim to test the extent of methylation of FXN in FRDA and age-sex-matched control fibroblasts by mapping differential methylation of the FXN locus. We will then test the functionality of the methylation by removing it using a modified CRISPR-dCas9-TET system, as demonstrated by Lui et al. (2018) in Fragile X models. We predict removal of the methylation will result in increased FXN mRNA and Frataxin protein, and thus restoration of mitochondrial function in FRDA cell lines.

How do I apply for research in the Vitiello lab?

Undergraduate students interested in working in the Vitiello lab in the summertime can apply for the Sanford Program for Undergraduate Research or the South Dakota BRIN program. These are paid internship programs. Dr. Vitiello will be on sabbatical September 2018-August 2019, and will have paid research positions through the BRIN Faculty Fellowship Program to work with her.

Grants Supporting Undergraduate Research

P20GM103443.  Goodman (PI).  9/01/15-5/30/20. NIH/INBRE (NIGMS) South Dakota INBRE Program.  $14.4 million. The purpose of the SD INBRE grant is to strengthen biomedical research across the state of South Dakota. Role:  Research Mentor