Thursday, October 1, 2015

Important FL Gene Mutation Discovery

A couple of weeks ago, the journal Nature Medicine published an important article a couple of weeks ago called "The Histone Lysine Methyltransferase KMT2D Sustains a Gene Expression Program that Represses B Cell Lymphoma Development." Some of the researchers are from Sloan Kettering, and they have a nice explanation of the study on their blog, and I recommend you take a look. Or, if you're too lazy to click, I'll give my own summary here.

I think it's fair to say that mapping the human genome changed cancer research, and Follicular Lymphoma research has certainly benefited. As researchers understand genes, and how genes mutate and change, they understand how those changes mess up the way cells normally behave. And as we all know, messed up cells that misbehave means cancer.

The researchers in this study already know that a gene called KMT2D mutates in about half of Follicular Lymphoma patients (and some Diffuse Large B Cell Lymphoma patients, too). But they didn't really know what that mutation did. Usually, when a gene mutates, it leads to a specific action that causes cancer, or helps sustain it. Researchers have already identified a bunch of gene mutations and figured out how they make FL happen.

To figure out what KMT2D does, they relied on a mouse model -- basically a mouse with Follicular Lymphoma that is close to what a human would have. The researchers found a way to block the KMT2D -- this way they could work backwards and see what the KMT2D would have done had it been working.

They found something they didn't expect -- the KMT2D didn't control one particular cell function. Instead that gene controls hundreds of other genes, and they control cell functions.

No one is called this a "master gene" or anything like that, and figuring out how to control the mutation isn't necessarily going to lead to a cure. Still, one of the lead researchers did say, "This is the most important mutation in this incurable disease, and we figured out what it does." When this gene gets messed up, it keeps a whole lot of other things from happening.

So this is a major step in understanding Follicular Lymphoma. Maybe not the final step, but definitely a major step. And it will take some time for other researchers to figure out how to control it, and then to develop, test, and get approval for actual treatments. But it's a very promising start. (I love to read about FL experts getting excited about a discovery. It makes it all a little more real.)

Read the Sloan Kettering blog for more detail. It's worth the read.

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