Carlos Moraes, PhD, on Organelle, RNA Function and Trafficking in Neuromuscular Disease

“The trafficking of organelles and RNA is critical in neuromuscular diseases.There are several disorders that we’ve found to have this trafficking effect. One typical example is a protein called mitofusin2, that participates in mitochondrial fusion but also mitochondrial transport in the axon. So, when there’s a mutation in mitofusin 2, patients develop a neuromuscular disease called Charcot Marie Tooth.”

While there have been many clinical stage advances in the field of neuromuscular disease in recent years, many researchers emphasize the need to not neglect basic science and further enrich our understanding of disease biology for a number of neurodegenerative or neuromuscular diseases.

A number of sessions at the 2024 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, held March 3-6, in Orlando, Florida, reflected this mindset, with a number focusing on disease biology and mechanisms. One such session was the Dysfunction in Cellular Organelles and Trafficking in Neuromuscular Disorders Session chaired by Carlos Moraes, PhD, Lichtenstein professor of neurology, University of Miami Miller School of Medicine.

CGTLive® spoke with Moraes to learn more about the role of organelle function and RNA trafficking in neuromuscular diseases. He overviewed the transport of organelles and RNA in muscle cells and how defects in this trafficking are associated with a number of diseases, noting that most attention has historically been paid to transport in nerve cells rather than muscle cells.Specifically, he touched on the Mitofusin 2 protein, which is important for mitochondrial function and transport, and which defects in lead to Charcot Marie Tooth (CMT) disease.

Click here to view more coverage of the 2024 MDA Conference.

REFERENCE

Moraes C. Dysfunction in Cellular Organelles and Trafficking in Neuromuscular Disorders. Session. Presented at: 2024 MDA Clinical and Scientific Conference; March 3-6; Orlando, FL.