The research team, led by scientists at the University of Texas Southwestern Medical Center, focused on a specific circular RNA called circMfn2. They found that circMfn2 is generated from a gene called Mfn2, which is known to be involved in mitochondrial fusion and dynamics.
The researchers observed that circMfn2 levels were reduced in muscle tissues of patients with muscular dystrophy, a group of genetic disorders that cause progressive muscle weakness. This reduction in circMfn2 levels was associated with impaired mitochondrial function and reduced muscle strength in animal models of muscular dystrophy.
Further investigation revealed that the formation of circMfn2 is regulated by a protein called RNA-binding protein HuR (ELAVL1). HuR binds to the Mfn2 pre-mRNA and promotes the circularization process, leading to the production of circMfn2. This process was found to be impaired in muscular dystrophy, resulting in decreased circMfn2 levels and contributing to the disease pathology.
"Our findings provide new insights into the molecular mechanisms underlying muscular dystrophy and highlight the potential role of circRNA in the disease process," said Dr. Jun-Li Liu, senior author of the study. "Further research is needed to explore the therapeutic potential of targeting circMfn2 or other circRNAs for the treatment of muscular dystrophy."
This discovery adds to the growing understanding of the role of circRNAs in human diseases and opens avenues for future research into the development of novel therapeutic strategies for muscular dystrophy.