Patient Empowerment Program: A Rare Disease Podcast
May 6, 2026 · 1 hr 5 min · 20 segments
A nano rare diagnosis reshapes an entire family. In Realizing Hope for Layken, Stan Crooke speaks with Callan Pleasant about her daughter Layken and their journey with HNRNPH2. Callan shares the…
Stan CrookHost
Uh, so just as background, um, as mammalians, we have cells that have two compartments, cytoplasm and nucleus, and the nucleus is the place where your DNA is housed and where the RNA that's going to make the proteins to do the work is, is made.
There's an enormous amount of machinery that you need to mature RNA so that they can do the things that they need to do.
And things like r- um, RNP H2, th- that's, that's a protein that, that's called that because it binds to RNA.
So it's an RNA-binding protein that should be in the nucleus, in, in the center of the cell.
Uh, Lakyn's mutation is in a signal that takes that protein and puts it in the nucleus, and that's called the nuclear localization signal.
And if it doesn't get to the nucleus as it should, it can't do the job it's supposed to do, but worse than that, it can form aggregates in the cytoplasm that are actually toxic to the cell.
And so she has a, a mutation that affects the location o- of a protein in a cell.
You, you would think that would just be so minor, that, "Oh, it's not, not as much of it is in the nucleus as ought to be." And that's the way it should be, but unfortunately it's not.
Uh, because it's located in the cytoplasm, it forms these aggregates, and that, that's what's doing the harm.
Um, and so just grasping the basics of all that is, I, I think, very difficult for people who aren't, you know, haven't spent their life thinking about what's in a cell, right? Um-
... and, and I'm sure, uh, Janine did a good job explaining that to you and your family.
But, um, so, so Lakyn has that particular problem, and it's a very rare problem, but there are families that have it.
And one of the things that you've learned is that even if you have a mutation in the same gene, the expression of the disease can vary widely.
Uh, so just as background, um, as mammalians, we have cells that have two compartments, cytoplasm and nucleus, and the nucleus is the place where your DNA is housed and where the RNA that's going to make the proteins to do the work is, is made.
There's an enormous amount of machinery that you need to mature RNA so that they can do the things that they need to do.
And things like r- um, RNP H2, th- that's, that's a protein that, that's called that because it binds to RNA.
So it's an RNA-binding protein that should be in the nucleus, in, in the center of the cell.
Uh, Lakyn's mutation is in a signal that takes that protein and puts it in the nucleus, and that's called the nuclear localization signal.
And if it doesn't get to the nucleus as it should, it can't do the job it's supposed to do, but worse than that, it can form aggregates in the cytoplasm that are actually toxic to the cell.
And so she has a, a mutation that affects the location o- of a protein in a cell.
You, you would think that would just be so minor, that, "Oh, it's not, not as much of it is in the nucleus as ought to be." And that's the way it should be, but unfortunately it's not.
Uh, because it's located in the cytoplasm, it forms these aggregates, and that, that's what's doing the harm.
Um, and so just grasping the basics of all that is, I, I think, very difficult for people who aren't, you know, haven't spent their life thinking about what's in a cell, right? Um-
... and, and I'm sure, uh, Janine did a good job explaining that to you and your family.
But, um, so, so Lakyn has that particular problem, and it's a very rare problem, but there are families that have it.
And one of the things that you've learned is that even if you have a mutation in the same gene, the expression of the disease can vary widely.
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