![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
mayoraaseiThe only reason I noticed this was because a Chinese newspaper (yes, again) made a huge sensation (yes, again) by calling it "the gene that turned a person into a stone sculpture".
Which probably isn't exactly wrong since bones are probably some very distant relative of limestone anyway.
This is apparently one of the "rarest diseases known to medical profession", affecting 1 in 2 million individuals worldwide. A single-base substitution (apparently the mutation is also a dominant allele) in the gene in question causes unregulated growth of bone tissue where muscles should be. Any sort of trauma or disturbance to muscles during growth - so, something as seemingly harmless as a bruise - will cause bone to form at that place (so obviously, any surgerical attempt to remove the bone will only make new bones form at the site of injury). The newly formed bones are apparently structurally exactly the same as any other skeletal bone. Eventually soft connective tissues all become "fossilised" and movement, even breathing (because of rigid chest cavity), becomes extremely difficult.
...What a horrid way to wait for death ;_;
Here if you can be bothered dredging through all the biochem.
Hmm, all that horrid genetics stuff aside, it appears that even though they've found the responsible gene/protein for the mess, they still can't predict why the condition can sometimes be dormant even in cases of obvious trauma and in others would flare up suddenly without any warning.
Which probably isn't exactly wrong since bones are probably some very distant relative of limestone anyway.
This is apparently one of the "rarest diseases known to medical profession", affecting 1 in 2 million individuals worldwide. A single-base substitution (apparently the mutation is also a dominant allele) in the gene in question causes unregulated growth of bone tissue where muscles should be. Any sort of trauma or disturbance to muscles during growth - so, something as seemingly harmless as a bruise - will cause bone to form at that place (so obviously, any surgerical attempt to remove the bone will only make new bones form at the site of injury). The newly formed bones are apparently structurally exactly the same as any other skeletal bone. Eventually soft connective tissues all become "fossilised" and movement, even breathing (because of rigid chest cavity), becomes extremely difficult.
...What a horrid way to wait for death ;_;
Here if you can be bothered dredging through all the biochem.
Hmm, all that horrid genetics stuff aside, it appears that even though they've found the responsible gene/protein for the mess, they still can't predict why the condition can sometimes be dormant even in cases of obvious trauma and in others would flare up suddenly without any warning.
