• Question: Is FOP only genetic, and is there a chance that it's not triggered?

    Asked by Scarlett to Daniel, Amy on 23 Jun 2017.
    • Photo: Daniel Smith

      Daniel Smith answered on 23 Jun 2017:

      Hmmm… I’m not a biologist or a clinician so I’m not really sure, but looking at some of the information on it FOP is caused by a mutation of a gene called ACVR1, literally just changing an arginine to a histidine in the protein sequence.

      This mutation apparently occurs in the gamete (sperm or egg/ovum) before fertalisation. The gene is apparently usually switched off as the foetus grows but isn’t in FOP patients (most probably due to the change in amino acid causing it to no longer bind to the target that stops it).

      The mutation itself however is incredibly rare with only 800 cases recorded worldwide (most probably due to the bodies own repair mechanism killing any mutated gametes before they can be used for fertilisation).

      As for if it could be triggered, I would have to say it may be possible if a freak point mutation occurred to switch the gene back on and then another (the one mentioned before) to stop it being switched off again. However the likelihood that the body wouldn’t pick up on and repair these mutations before they had chance to occur is ultra slim.

      Amy or Helen may have better (more biologically true) answers, but thats my feeling from it.

      The good news is that there are many drugs in clinical trials to try to combat it by switching the gene off or inhibiting it 🙂

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