Ishaan Murthy

Nemaline Myopathy: Genetics, Pathology, and Treatments

Started Apr. 17, 2024

Abstract or project description

Nemaline myopathy is a rare muscle disorder affecting 1 in 50,000 people, with a wide range of severity. This disorder is characterized by muscle weakness and issues with skeletal mobility, and is caused by mutations in genes like NEB or ACTA1. These mutations disrupt the proteins encoded by the genes which ultimately leads to less effective muscle function. These mutations in the genes lead to the formation of nemaline bodies in muscle fibers which disrupts the muscles ability to contract and movement of the muscle becomes more limited. This paper dives into the pathophysiology of nemaline myopathy along with the genetics involved with it, especially looking into the impacts mutations have on the proteins produced by their respective gene. This paper will also talk about current treatments for nemaline myopathy which are very limited, as treatments only include physical therapy and there is no cure currently for the disease. Researchers are working on cures including gene therapy and ASOs. Current treatments are just meant to help stabilize the muscles and give patients a stronger foundation to live upon, increasing quality of life at the same time.