3 ms·

I'm researching related genetic syndromes as part of my Satb2 research, which my daughter has. From what I understand seizures are a risk for both of those and

by heyoni 2y ago

I'm researching related genetic syndromes as part of my Satb2 research, which my daughter has. From what I understand seizures are a risk for both of those and ketogenic diets are purported to reduce them. Is your son on a ketogenic diet? or some approximation of one? It seems like it would be hard to get a child to adhere to one.

marstall 2y ago
not yet. we are in the middle of a trial of sorts giving him a daily keto drink to raise his blood ketone level in hopes of achieving something similar to a keto diet. seizures aren't a risk for kabuki afaik, but we are hoping for a cognitive boost because the kabuki gene is responsible for chromatin opening. without that neurogenesis is deficient. hdac inhibition can reverse it and keep the chromatin open for longer, allow expression of various key genes. with satb2 - you have one functioning allele, right? is there any research being done to increase its output to compensate for the missing allele? or is it more complicated than that with missing adjacent genes etc?
- heyoni 2y ago
  With Satb2 there are a few basic things that need to be sorted out, it could be haploinsufficiency (so one working copy doing all the work not being enough) or some sort of dominant negative situation. It's also a transcription factor involved in chromatin opening but I'm hoping that it's the former (haploinsufficient) since treatment would be simpler. Kabuki not getting seizures could very well be the case, I'm getting a lot of wires crossed in my studies. That drink though sounds intriguing. That's not something you can just buy over the counter right? If not I'd like to bring that up to our foundation as something to potentially look into since we're going down that path anyways. btw feel free to reach out directly, i'll leave a temp email in my profile.
  - marstall 2y ago
    it is: https://hvmn.com/products/ketone https://hvmn.com/products/ketone ... i'll email you!

by heyoni 2y ago

marstall 2y ago

not yet. we are in the middle of a trial of sorts giving him a daily keto drink to raise his blood ketone level in hopes of achieving something similar to a keto diet. seizures aren't a risk for kabuki afaik, but we are hoping for a cognitive boost because the kabuki gene is responsible for chromatin opening. without that neurogenesis is deficient. hdac inhibition can reverse it and keep the chromatin open for longer, allow expression of various key genes. with satb2 - you have one functioning allele, right? is there any research being done to increase its output to compensate for the missing allele? or is it more complicated than that with missing adjacent genes etc?

heyoni 2y ago
With Satb2 there are a few basic things that need to be sorted out, it could be haploinsufficiency (so one working copy doing all the work not being enough) or some sort of dominant negative situation. It's also a transcription factor involved in chromatin opening but I'm hoping that it's the former (haploinsufficient) since treatment would be simpler. Kabuki not getting seizures could very well be the case, I'm getting a lot of wires crossed in my studies. That drink though sounds intriguing. That's not something you can just buy over the counter right? If not I'd like to bring that up to our foundation as something to potentially look into since we're going down that path anyways. btw feel free to reach out directly, i'll leave a temp email in my profile.
- marstall 2y ago
  it is: https://hvmn.com/products/ketone https://hvmn.com/products/ketone ... i'll email you!