Mucolipidosis type IV

Transcription

>> I think that this stage, when I do the one experiment, maybe it's been basically risky but you know if it's going to work, that you hope is going to work. And you would go to the microscope and you look at these and it worked, just as you predicted, and you feel how your heart start beating because you know this is something good. And that only happened to me maybe two or three times so far in my life. My laboratory is interested in understanding how cells work. And, in particular, we're very interested in lysosomes. This is an organelle inside of the cells. I need to basically then [inaudible] organelle. It's not to me really important to be great differing materials. It could be carbon, nutrients, pathogens. So in my laboratory we basically have two proteates [phonetic spelling]. We want to understand how lysosomes work in normal conditions; and we want to understand how they work under pathological conditions, why, when lysosomes don't work properly, sometimes that led to human disease. In humans, there are like 70 different diseases that are caused by mutations in lysosomal proteins. And, specifically, we work with mucolipidosis type IV. It's caused by mutations in mucolipin-1 that is a cation channel that localize to the lysosome. And we are trying to understand what is the function of this protein and why, when this protein is mutated, lysosomes don't work properly; and that led to neural degeneration, blindness, and many different problems. The initial step is going to be try to learn a little more about the physiological function of those proteins in vivo. So we are moving a little more toward where animal models, and we are now doing different experiments, as I say, in mouse but also in zebrafish. So, for example, in zebrafish, we just generated an [inaudible] for mucolipin-1. And I think this is going to be very useful because zebrafish have the advantage that you can follow their embryonic development because those animal are transparent and it's very easy to monitor, for example, the formation of the eye, the brain, the different embryo [inaudible] cells just by looking at the animal. >> Usually I start exploring the localization of proteins basically in the cells using microscopic technologies, techniques. But then we use other approaches like biochemistry to try to understand the interaction between proteins. >> So right now I'm doing a TUNEL staining for my zebrafish. Basically, I have a nome [phonetic spelling] called lime, a genome called lime [phonetic spelling], and I want to characterize their phenotype. So I'm watching those fish and, later on, I will stain the fish with fluorescence. So TUNEL staining is specific for apoptosis detection. >> You know, I think the thing that was really cool when I first joined here is I learned a lot very quickly. You know, a lot of things are very accessible, which allows you to answer questions a lot more quickly. So, instead of having to wait for reagents to come in or maybe you don't have an instrument you need, it's all there; so you can really start addressing things very quickly. And that surprised me, really, just how quickly I was able to do things and to learn a lot in a short amount of time. >> But what we are learning, and I think it's important to keep that in mind, it can then be applicable to many different diseases by understanding how mucolipin-1 is regulating fusion of lysosomes with other [inaudible]. We found that [inaudible] is really important in lysosome [inaudible] disorders, and now we are finding that many different diseases have very common characteristics to that. When you really know you have a beautiful story and it's something that makes sense but is unexpected and no one interfered, and then this energy that you get, one can do no more about what you found, I think this rising adrenaline that you get when you get a really good result, I think that that make the days, like, very good days.