Of all the passing internet trends of the last year, I have to say the one I miss the most is the “Ice Bucket Challenge”. Assuming you’ve had an internet connection for the last year or so, you’ve probably seen at least IBC video of someone dumping ice water on themselves or someone else. The original premise behind the videos was to raise awareness for ALS or Lou Gehrig’s disease. Some people thought it was just a goofy internet trend, but the results fo the IBC going viral was actually pretty astounding.
First, the ALS association reports that because of the success of the IBC, they raised over $100 million dollars in the same timeframe that they raised $2.8 million dollars the year before. Money that is going to fund the research to find a cure for ALS. Keep in mind, there are 30,000 people living with ALS right now, and only 20% live past 5 years of being diagnosed. That is what makes this research so important.
In a recent Reddit “Ask Me Anything” session, ALS researcher Jonathan Ling wrote about the success of the Ice Bucket Challenge, and more importantly, of a major breakthrough in their research. Ling writes, “I mainly wanted to do this [“Ask Me Anything”] because I remember reading a lot of stories about people complaining that the ice bucket challenge was a waste and that scientists weren’t using the money to do research, etc. I assure you that this is absolutely false. All of your donations have been amazingly helpful and we have been working tirelessly to find a cure. With the amount of money that the ice bucket challenge raised, I feel that there’s a lot of hope and optimism now for real, meaningful therapies.”
The breakthrough that Ling and his team have discovered lies within a specific protein in cells known as TDP-43. In 97% of people with ALS, this protein isn’t doing what it is supposed to do, and Ling thinks it is the key. He went on to explain in his Reddit post:”DNA is located in the nucleus of a cell. You can think of a nucleus as a library except that instead of having books neatly lined up on shelves, the books in a nucleus have all of their pages ripped out and thrown around randomly.
To sort through this mess, the cell has great librarians that go around collecting all these pages, collating them and neatly binding them together as books. These librarians then ship these ‘books’ out of the nucleus so that other workers in the cell can do their jobs. Think of these books as instruction manuals. TDP-43 is a very special type of librarian. TDP-43’s job is to ensure that nucleus librarians don’t accidentally make a mistake and put a random nonsense page (usually filled with gibberish) into the books that they ship out.
If one of these nonsense pages makes it into an ‘instruction manual,’ the workers in the cell get really confused and mess things up. For terminology, we call these nonsense pages ‘cryptic exons.'”
Ling is convinced that finding a way to correct the issues with the TDP-34 protein is the key to finding a treatment for ALS. And to think, it all started with people dumping ice water on themselves.