Since 2014, the ice bucket challenged has greatly increased public awareness of the disease amyotrophic lateral sclerosis (ALS). This disease, which is often referred to as Lou Gehrig’s Disease, has become a public concern after all of the viral videos encouraging people to donate towards researching a cure for the condition. It seems that these donations have been effective, since new research has revealed a complicated connection between genetics and the disease.
The primary issue with ALS is that it destroys nerve cells that are responsible for movement. As the disease progresses, muscles get weaker and waste away. Though a person might just feel mildly tired at first, they can eventually lose all of their motor skills. This is a disease that affects many people worldwide, including the famous physicist, Stephen Hawking.
Disease is often viewed as a relatively simple subject. If the medical issue is genetic, then most people think one simple gene is always completely responsible for giving you a disease. However, the real cause of most diseases is far more complex.
Past research into ALS made it seem like genetics were not that involved. People seemed to contract it randomly, instead of inheriting it from family. Detailed inspections of cells had shown that ALS patients had a regulatory protein clumping in their nerve cells. Though medical researchers recognized the importance of these findings, they were not sure if the clumps of TDP-43 proteins caused ALS or if it was merely a symptom.
Researchers from Johns Hopkins University have been able to shed some light on what might be causing ALS. In order to understand their theory, it is necessary to first understand the way DNA creates new proteins. DNA is actually a sort of template that is used to form RNA strands, which travel to parts of the body to make proteins. Before the RNA strands travel to make proteins in other cells, the cell cuts out the unimportant information in the original RNA strand and pastes it back together into a messenger RNA.
The protein that clumps in ALS nerve cells is an important part of the process used to create messenger RNA. TDP-43 helps determine which unnecessary DNA segments can be left out of the messenger RNA strands. As the researchers noticed, if TDP-43 is not functioning properly, the procedure for RNA copying can go wrong, leading to deformed proteins.
In patients with ALS, deformed TDP-43 cells tend to build up. Cells create deformed proteins that lead to the formation of even more deformed proteins. These broken proteins build up in muscles, eventually killing the nerve cells. The researchers at Johns Hopkins were able to substitute a fully functioning protein for the broken TDP-43 proteins, and the cells returned to normal functioning levels. They hope that a similar process can be designed to work in humans with ALS, in order to stop the disease from progressing further.
This fascinating discovery may be the first step in finding a cure for ALS. Though it is not wholly genetic, there is obviously a connection between genes and ALS. The interactions of proteins and strands of DNA may be triggering ALS in some way. Hopefully, this new information can inspire other researchers and help them to find a cure.