IPRD funded research by Michelle Parvatiyar

Duchenne muscular dystrophy is a lethal X-linked genetic disorder that affects 1:3500 live male births. The disease is caused by mutations in the dystrophin gene encoding the dystrophin protein, which is required for maintaining muscle cell structure and muscle fiber integrity. Inflammation plays a significant role in the pathogenesis, contributing to ongoing muscle damage. Loss of muscle cell integrity triggers inflammation and chronic inflammation further exacerbates muscle deterioration. Nuclear factor kappa-B (NF-kB) is an essential transcription factor controlling the inflammatory response. Therefore, NF-kB inhibitors have attracted considerable attention as potential therapies. However, clinical trials of various NF-kB inhibitors have produced mixed results as these drugs also influence other cellular signaling pathways. Unfortunately, other anti-inflammatory drugs have been ineffective in significantly halting DMD progression. These observations suggest that further refinement of the approaches to target the NF-kB pathway is required. This research project will focus on a less well characterized “non-canonical” NF-kB signaling pathway that drives tissue-damage-induced inflammation, as a first step toward identifying novel targets for small molecule drugs that can reduce muscle damage produced by inflammation.
 

Resources

• Johns Hopkins Medicine
• MedlinePlus
• Muscular Dystrophy Association
   

News

• FDA Expands Approval of Gene Therapy for Patients with Duchenne Muscular Dystrophy (June 20, 2024)

Join IPRD-funded scientist Michelle Parvatiyar, Ph.D., from the FSU Department of Health, Nutrition and Food Sciences, as she unveils exciting new findings from her research on Duchenne muscular dystrophy. This rare pediatric disease leads to severe muscle weakness, muscle degeneration, respiratory issues, and, ultimately, heart failure. Discover how support from the Institute for Pediatric Rare Diseases has paved the way for a novel project examining the role of inflammatory genes associated with the disease. Parvatiyar and her Ph.D. students, Bolade Olateju and Nazanin Mohammadipour are making significant strides in this critical area of research.