Can you have the ALS gene and not get ALS
Overview
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that affects nerve cells in the brain and spinal cord. In the United States, it is estimated that more than 5,000 people are diagnosed with ALS each year. It is estimated that up to 10% of ALS cases may be inherited. While there is no cure for ALS, research is ongoing to explore the possible genetic causes of the disease.
Genetics of ALS
A number of genes have been identified that can increase the risk of developing ALS. One of the most common is the SOD1 gene, which is responsible for encoding the enzyme superoxide dismutase 1 (SOD1). Mutations in this gene have been linked to familial ALS, which is a type of ALS that is inherited. In addition, other genes such as FUS, TARDBP, and C9orf72 may also be associated with ALS.
Can you have the ALS gene and not get ALS?
Having a genetic mutation associated with ALS does not necessarily mean that a person will develop the disease. In fact, many people who have a mutation in the SOD1 gene may never develop ALS. This is because the presence of a mutation in a gene does not guarantee that the gene will be expressed. It is possible that the mutation may remain silent, and therefore the person will not develop the disease.
Risk Factors
Even if a person has a genetic mutation associated with ALS, there are still other factors that may increase the risk of developing the disease. These include age, gender, smoking, environmental exposures, and family history of ALS. It is important to note that having a genetic mutation does not guarantee that a person will get ALS; rather, it increases the likelihood of developing the disease.
Conclusion
It is possible to have a genetic mutation associated with ALS and not get the disease. While having a mutation increases the risk of developing the disease, other factors such as age, gender, smoking, environmental exposures, and family history of ALS may also play a role. It is important to speak with a healthcare provider if you have any questions or concerns about your risk of developing ALS.