
Sign up to save your podcasts
Or
https://astralcodexten.substack.com/p/what-do-treatments-for-accelerated
Progeria is a rare disease that makes people age unnaturally quickly. Babies born with progeria can lose their hair in toddlerhood, get wrinkles by grade school age, and die - apparently of old age - in their early teens. You can see a picture of a progeroid child here, though I don't recommend it.
There's been a lot of research on one important form - Hutchinson-Gilford Syndrome - and just last year, the FDA approved the first treatment, a drug called lornafarnib. In the study, a few hundred children averaging around 7 years old took the drug for two years; 3% died during that time. In an ad hoc group of untreated comparison children, about 30% died during the same period. I'm a little confused by the methodology - it seems like the "comparison children" were chosen partly because they died too early to get into the trial, which sounds like a pretty major confounder - but everyone seems to treat this as reasonable so I will assume they adjusted for this in some way. If that's true, then lornafarnib cuts mortality by 90%.
That's great for the 300 or so children worldwide with Hutchinson-Gilford progeria (it's a really rare disease). But none of the discussion about this answered the question I wanted to know: can lornafarnib also prevent normal aging?
After looking into this more, I find some evidence the the answer is no, but also some reasons why maybe it's less clear cut than that?
Hutchinson-Gilford progeria (I'll just say "progeria" from here on, even though that's kind of inaccurate) is what's called a laminopathy. It's a disease of the nuclear lamina, a weblike structure that helps support and give shape to the cell nucleus. The lamina is partly made of a protein called lamin A. Children with progeria have a mutation in the relevant gene; instead of producing lamin A, they produce a defective mutant protein called progerin. The cell tries to build the nuclear lamina out of defective progerin instead of normal lamin A, and as a result the cell nucleus is screwed up and can't maintain a normal shape.
4.8
123123 ratings
https://astralcodexten.substack.com/p/what-do-treatments-for-accelerated
Progeria is a rare disease that makes people age unnaturally quickly. Babies born with progeria can lose their hair in toddlerhood, get wrinkles by grade school age, and die - apparently of old age - in their early teens. You can see a picture of a progeroid child here, though I don't recommend it.
There's been a lot of research on one important form - Hutchinson-Gilford Syndrome - and just last year, the FDA approved the first treatment, a drug called lornafarnib. In the study, a few hundred children averaging around 7 years old took the drug for two years; 3% died during that time. In an ad hoc group of untreated comparison children, about 30% died during the same period. I'm a little confused by the methodology - it seems like the "comparison children" were chosen partly because they died too early to get into the trial, which sounds like a pretty major confounder - but everyone seems to treat this as reasonable so I will assume they adjusted for this in some way. If that's true, then lornafarnib cuts mortality by 90%.
That's great for the 300 or so children worldwide with Hutchinson-Gilford progeria (it's a really rare disease). But none of the discussion about this answered the question I wanted to know: can lornafarnib also prevent normal aging?
After looking into this more, I find some evidence the the answer is no, but also some reasons why maybe it's less clear cut than that?
Hutchinson-Gilford progeria (I'll just say "progeria" from here on, even though that's kind of inaccurate) is what's called a laminopathy. It's a disease of the nuclear lamina, a weblike structure that helps support and give shape to the cell nucleus. The lamina is partly made of a protein called lamin A. Children with progeria have a mutation in the relevant gene; instead of producing lamin A, they produce a defective mutant protein called progerin. The cell tries to build the nuclear lamina out of defective progerin instead of normal lamin A, and as a result the cell nucleus is screwed up and can't maintain a normal shape.
4,226 Listeners
584 Listeners
2,395 Listeners
1,784 Listeners
105 Listeners
269 Listeners
89 Listeners
88 Listeners
417 Listeners
128 Listeners
164 Listeners
91 Listeners
75 Listeners
146 Listeners
123 Listeners