Amyotrophic Lateral Sclerosis (ALS) is a disease that gets worse over time and mainly affects the nerve cells that help us move. This disease involves changes in our genes, which are like tiny instructions for our bodies. These changes can lead to problems in how our nerve cells work, causing them to die. Let’s look at how these changes can affect our cells:
Wrong Protein Shapes: Some gene changes, like in SOD1, TARDBP, and FUS, can cause proteins to form incorrectly. When the SOD1 gene has a mutation, it can lead to stress in the cell and lots of improperly shaped proteins. These messed-up proteins clump together, which makes it hard for the cells to work properly. This jumble can also block important processes that keep our nerve cells healthy.
Problems with RNA: Changes in the TARDBP gene, which helps with RNA, can mess up how RNA is made and used. When this is not working right, it can stress out nerve cells and cause them to break down. This also affects proteins that are important for keeping nerve cells strong and healthy.
Inflammation Issues: Certain gene changes can change how immune cells in the brain, called microglia and astrocytes, react in ALS. When mutations are present, these immune cells might produce harmful substances that can cause more damage to the nerve cells.
Energy Problems: Some gene changes can also harm the mitochondria, which are like the power stations of our cells. When these power stations don't work correctly, cells don’t get enough energy. This may lead to the death of nerve cells, causing more problems with movement.
In simple terms, genetic changes linked to ALS mess with different parts of cell function, including how proteins are made, how RNA works, inflammation, and energy production. Learning more about these issues can help scientists find new ways to treat ALS and possibly slow down or even stop the disease from getting worse.
Amyotrophic Lateral Sclerosis (ALS) is a disease that gets worse over time and mainly affects the nerve cells that help us move. This disease involves changes in our genes, which are like tiny instructions for our bodies. These changes can lead to problems in how our nerve cells work, causing them to die. Let’s look at how these changes can affect our cells:
Wrong Protein Shapes: Some gene changes, like in SOD1, TARDBP, and FUS, can cause proteins to form incorrectly. When the SOD1 gene has a mutation, it can lead to stress in the cell and lots of improperly shaped proteins. These messed-up proteins clump together, which makes it hard for the cells to work properly. This jumble can also block important processes that keep our nerve cells healthy.
Problems with RNA: Changes in the TARDBP gene, which helps with RNA, can mess up how RNA is made and used. When this is not working right, it can stress out nerve cells and cause them to break down. This also affects proteins that are important for keeping nerve cells strong and healthy.
Inflammation Issues: Certain gene changes can change how immune cells in the brain, called microglia and astrocytes, react in ALS. When mutations are present, these immune cells might produce harmful substances that can cause more damage to the nerve cells.
Energy Problems: Some gene changes can also harm the mitochondria, which are like the power stations of our cells. When these power stations don't work correctly, cells don’t get enough energy. This may lead to the death of nerve cells, causing more problems with movement.
In simple terms, genetic changes linked to ALS mess with different parts of cell function, including how proteins are made, how RNA works, inflammation, and energy production. Learning more about these issues can help scientists find new ways to treat ALS and possibly slow down or even stop the disease from getting worse.