Spinal Muscular Atrophy and the Genes Involved

by Marta Ribeiro | August 30, 2016

Spinal muscular atrophy (SMA) is a genetic disease that affects mostly children. Sadly, some forms of SMA can lead to death. The severe neuromuscular disease causes the inability to participate in daily life functions like walking, eating, or even breathing.

This disease is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, the gene produces a protein that is crucial to the function of nerves that control our muscles. If the protein is not being produced as it should, nerve cells will not function properly and eventually die.

In this video shared by DNA Learning Center in 2012, Dr. Charlotte Sumner explains how SMA is related to changes in the SMN1 and SMN2 genes and what the mutation of those genes mean to the development of SMA.

Find out more on how gene therapy can be used to treat SMA.

SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

About the Author

Marta Ribeiro Marta graduated from Universidade Fernando Pessoa in Porto with a degree in Communication Sciences and a Masters degree in New Communication Technologies. She has experience in social media, worked with several media channels, and has also worked as a freelance photographer and a graphic artist for almost 10 years.