The loss of frataxin in the heart of people with FA results in a severe form of heart disease called hypertrophic cardiomyopathy. This results in progressive death of heart cells accompanied by inflammation and fibrosis. Fibrosis is characterized by the excessive accumulation of collagen that causes stiffness of the heart and diminished filling with blood. Cardiac fibrosis could also contribute to arrhythmias that are quite common and contribute to FA cardiomyopathy. There are several secreted factors that activate fibrosis in the heart, including transforming growth factor-beta. Understanding which cells produce these factors and why is crucial for developing therapeutic strategies to mitigate fibrosis and prevent the progression of FA heart disease. This project will focus on the activation of cardiac fibroblasts, the cells that produce collagen and cause fibrosis in the FA heart to identify potential therapeutic targets to attenuate cardiac fibrosis.
General Research Grant | Cardiac Research
Molecular and cellular mechanisms of cardiac fibrosis in Friedreich ataxia
Grant Awarded | Apr 2025
Giovanni Manfredi, MD, PhD and Mark Payne, MD
Weill Cornell Medicine and Indiana University
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The FARA Grant Program is proud to award a general research grant to Giovanni Manfredi, MD, PhD, of Weill Cornell Medicine, and Mark Payne, MD, of Indiana University, to understand the development and role of fibrosis in FA cardiac pathology.
This grant is co-sponsored by the Muscular Dystrophy Association.
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