In the grand theater of cellular biology, where proteins perform their ancient choreography and genes conduct their molecular symphonies, a new player has emerged from the most unexpected corner...
My daughter has Late-Onset Pompe disease, which is a lysosomal storage disease in which she has 2 GAA(acid alfa-glucosidase) variants, which result in her cells being unable to produce enough of the enzyme that breaks stored glycogen down into glucose. She started enzyme replacement therapy at 18 months old(she is now almost 4). ERT significantly slows disease progression - muscle wasting, atrophy, organ damage - but it is a time-intensive all-day bi-weekly treatment that will lose its effectiveness over time. Furthermore, ERT does not cross the blood-brain barrier. I am very curious if MOTS-c is being studied in the use of Muscular dystrophy diseases such as Pompe disease?
**sidenote** (I am also very curious and open to suggestions on the path of pursuing a career in metabolic genetic research)
My daughter has Late-Onset Pompe disease, which is a lysosomal storage disease in which she has 2 GAA(acid alfa-glucosidase) variants, which result in her cells being unable to produce enough of the enzyme that breaks stored glycogen down into glucose. She started enzyme replacement therapy at 18 months old(she is now almost 4). ERT significantly slows disease progression - muscle wasting, atrophy, organ damage - but it is a time-intensive all-day bi-weekly treatment that will lose its effectiveness over time. Furthermore, ERT does not cross the blood-brain barrier. I am very curious if MOTS-c is being studied in the use of Muscular dystrophy diseases such as Pompe disease?
**sidenote** (I am also very curious and open to suggestions on the path of pursuing a career in metabolic genetic research)
That last one is a great point. Do you know of any particular research labs engaged in longitudinal studies currently?