Pathophysiology - Exam 1: Osteogenesis Imperfecta

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7 Terms

1
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What is OI?

an inherited bone disorder that refers to soft bones that fracture easily

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What happens in OI?

  1. genetic mutation in COL1A1 or COL1A2 genes inherited by autosomal dominant patterns

  2. Alters the gene sequence of a triple helix domain (Gly-X-Y)

  3. Mutations result in a substitution of a larger amino acid for glycine which results in an abnormal helix formation

  4. The type 1 collagen formed is functionally impaired. Also called a dominant negative mechanism

3
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which type of collagen causes a greater impact when mutated?

type 1 COL1A1

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type I OI

most common and mild

COL1A1 is the only type present

broken bones occur before puberty and in elderly

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type II OI

COL1A1 and COL1A2 are present

child dies within days or weeks

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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

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type IV OI

COL1A1 and COL1A2 are present

poor quality collagen

more severe than type I, less severe than types II and III