Pathophysiology - Exam 1: Osteogenesis Imperfecta
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7 Terms
What is OI?
an inherited bone disorder that refers to soft bones that fracture easily
What happens in OI?
genetic mutation in COL1A1 or COL1A2 genes inherited by autosomal dominant patterns
Alters the gene sequence of a triple helix domain (Gly-X-Y)
Mutations result in a substitution of a larger amino acid for glycine which results in an abnormal helix formation
The type 1 collagen formed is functionally impaired. Also called a dominant negative mechanism
which type of collagen causes a greater impact when mutated?
type 1 COL1A1
type I OI
most common and mild
COL1A1 is the only type present
broken bones occur before puberty and in elderly
type II OI
COL1A1 and COL1A2 are present
child dies within days or weeks
type III OI
COL1A1 and COL1A2 are present
enough collagen is made, but it is made defective
severe in babies but does not cause death
type IV OI
COL1A1 and COL1A2 are present
poor quality collagen
more severe than type I, less severe than types II and III
Note 
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