Step I Osteogenesis Imperfecta

Started by med217
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med217

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Page 62 FA16 says "problems forming triple helix --> osteogenesis imperfecta", which is consistent with that Najeeb mentions in his videos (genetic problem whereby incorrect amino acids in the chain lead to a bulkier, more unstable collagen molecule).

Page 63 FA16 says "most common form is autosomal dominant with decreased production of otherwise normal type 1 collagen".

Which is it?
 
Osteogenesis Imperfecta has 8 types!
Type 1 is autosomal dominant (the most common type), in which there's decreased production of type 1 collagen but the quality of collagen is normal.

Other types of OI are mostly autosomal recessive, in which the quality of type 1 collagen is also impaired.
 
Just like what @Reperfused said, its to my understanding that OI is a spectrum of disorders in where you have a problem with collagen, be it quality or quantity