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    • #11401

      Increased levels of a protein called GRP75 appear to repair frataxin deficiency and mitochondrial changes in Friedreich’s ataxia (FA), a cell study reports. Click here to read more about it.

      What are your thoughts about this news?

    • #11418

      I don’t mean to be a bummer. I should probably be super excited that any progress is being made…but part of me thinks, “This isn’t my first rodeo.” Seems like incremental steps have been all there is to see for twenty years. I’m ready for a breakthrough. Sorry, I need to be more optimistic, but those are my thoughts.

    • #11431

        I thought this was interesting, because it takes a different route to rescuing Frataxin. I’ll explain.

        Our cells make proteins like this: DNA -> RNA -> Protein

        So normally Frataxin is made like this:

        Frataxin Gene (DNA) -> Frataxin mRNA -> Frataxin Protein

        Because of GAA repeats in the DNA, FA patients have trouble with the first step ( DNA -> RNA ), which is known as transcription. Since we don’t make sufficient Frataxin mRNA, we don’t have enough Frataxin protein. But, we do have some.

        The cool thing about this study is it takes a post-transcriptional approach. In other words, instead of trying to get around the issues caused by the GAA repeats in the DNA, the protein in the study (GRP75) works with the small amount of Frataxin we already have, and basically helps keep it around longer and get to the mitochondria where it can then do its job.

        It’s definitely preliminary work, but I think it’s pretty cool. Instead of trying to make our bodies produce more Frataxin, or simply mopping up the damage caused by not having much Frataxin, this research shows we might be able to just help the Frataxin we already have!

      • #11432

          Here is the full paper, if anyone is interested in reading:

          • #11435

            You are like our secret weapon and I am honored to have you here.

          • #11442

            I agree with Matt, we’re so fortunate!

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