Student Seminars 9/11- Osteogenesis imperfecta Flashcards
1
Q
Osteogenesis Imperfecta
A
inherited bone
disorder that refers to soft bones that
fracture easily
Manifests in easily broken bones,
bone deformities, muscle weakness,
and skin that easily bruises
2
Q
Genetic mutation in which gene?
A
COL1A1( chromosome 17) or COL1A2
(chromosome 7)
3
Q
mutation result
A
Alters the gene sequence of a triple
helix domain (Gly-X-Y)
Now a larger aa that impacts helix structure–> function
extra spaces in bones–> brittle
4
Q
what helps with bone health and density
A
collagen–> genes COL1A1, COL1A2
5
Q
more substitutions in COL1A1 makes OI….
A
more lethal
6
Q
Type 1
A
Col1 A2 (mildest most common)
-happens before puberty
7
Q
Type 2
A
Col1A1 and Col1A2
severe, die as newborns
8
Q
Type 3
A
Col1A1 and Col1A2
