LASHA OI Flashcards
What happened to Lasha
- He fractured his arm
What are the parents of him conerned abt
- That this isnt the first time their son has gotten a fracture as over the year he has had 4 differnet fractures
What are the signs and symptoms that Lasha has
Blue sclera
Joint hyperflexibility
Corssbite
What did the doctors find prior to the final diagnosis of OI
lasha had low bone mineral density, which was the reason for his multiple fractures
mutant collagen
Explain the connection between ERAD and OI
mutant collagen from COL1A1 is misfolded and degraded by ERAD, reducing funtional collagen
What is the function of RER
- Contains ribisomes that syntheise proteins
- And folds newlwey synthesised proteins into their functional shape
proteins folded
Describe quality control during protein production in the RER and explain functioning of ERAD
- QUality controld
- Proteins are folded in the RER with the help from chaperones
- The modified proteins are detected and retained to prevent transport
ERAD
-wHERE THE misfolded proteins are identifed and transferred to te cytoplasm and then degraded by proteasome.
What are the classification of bones
long
flat
short
irregular
What is the anatomy of long bones
- Long and thin in shape
What skeleteal deformities are common in patients with OI
- Bone deformities
-Spinal deformities
-Short stature
Dental issues
What areas are most affected by fractires in OI
- long bones
ribs
spine
pelvis
hip
skull
Why do patients w OI have blue sclera
- As the type 1 collagen defects weaken and thin the sclera
- The thin sclera then allows the underlying blue colourred layer to become visible
Why do patients w OI have lower bone density
Due to the defective type 1 collagen in the bone which provides structural support
What is the role of Type 1 collagen
- Provides strength and flexibility
How many types of OI are there
and which is the most sevre
4 and 2 is the most svere
