Muscular Dystrophy and Genetics of Inheritance

Summary

This project explores the genetic causes, symptoms, and potential treatments for muscular dystrophy (MD), with a focus on Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Both conditions arise from mutations in the dystrophin gene, a critical protein responsible for muscle stability and function. DMD, the more severe form, results from a complete absence of dystrophin, while BMD stems from reduced or partially functional dystrophin protein. MD primarily affects males due to its X-linked recessive inheritance pattern, while females are usually asymptomatic carriers. Symptoms typically emerge in early childhood, including difficulty walking, climbing stairs, and frequent falls. As the disease progresses, muscle degeneration impacts the heart and respiratory systems, often leading to wheelchair dependence and life-threatening complications. Current treatments focus on symptom management through corticosteroids, exon-skipping therapies, and supportive care, including physical therapy and surgical interventions. Gene therapy, using CRISPR-Cas9 and viral vectors like AAVs, holds promise for introducing functional copies of the dystrophin gene to muscle cells, potentially halting disease progression. Stem cell therapy and advanced gene-editing technologies are also being investigated.

Representation of Wild vs. Mutated DMD Gene
(Figure representation created by the author:Adrit Saha)

Video Presentation

Impact Statement

My project involved analyzing Muscular Dystrophy and its effects on children. I used other research projects and came up with my own conclusions. I learned how to use advanced and more scientific software to overcome research barriers. I also liked how research can be done from the lab or remotely. The program has significantly enhanced my readiness for future research. It introduced me to different concepts, providing me with a solid foundation to step into the research world with confidence. I am truly grateful for the excellent instruction I received. The instructor's organized teaching style greatly contributed to my learning experience.

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By: Adrit Saha. The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.

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