Bones 1 Flashcards
What cells have RANK ligand?
Osteoblasts and marrow stoma cells
Where is the RANK receptor located?
Osteoclasts precursor
Allows OC generation and survival
Describe the M-CSF pathway
M-CSF secreted by OB
Receptor located on OC, allows OC generation and survival
What is the function of the WNT/B-catenin pathway?
WNT from marrow stomal cells binds LRP5 and 6 receptor on OB
Secretes OPG that blocks RANK
What substances make up bone?
Calcium hydroxyapatite
Organic matrix, mostly Type 1 Collagen
What are the two main types of bone?
Woven bone- random collagen deposition
Lamellar bone - ordered collagen deposition
What is osteopontin?
Unique to bone, levels parallel to osteoblast activity
What is alkaline phosphatase?
From osteoblasts
But also located in liver and placenta
What are the characteristics of woven bone?
Rapid bone growth - e.g. healing fracture
Resists forces in all directions
Always pathologic
What are the characteristics of lamellar bone?
Ordered collagen deposition
Replaces woven bone
Stronger than woven bone
What is intramembranous ossification?
Process of bone formation, direct from mesenchyme
Appositional growth
What is dysostosis?
Local problems in migration of mesenchyme and their condensation
What is dysplasia?
Global defect in regulation of skeletal organogenesis
What are the symptoms of Cleidocranial dysplasia?
Short stature
Abnormal clavicles
Supernumery teeth
Wormian bone
What is the cause of cleidocranial dysplasia?
RUNX2 transcription factor defect
What is the cause of achondroplasia?
FGFR3 point mutation, GoF mutation that inhibits cartilage growth
90% results from point mutation
If achondroplasia is hereditary, what is its inheritance pattern?
Autosomal dominant
Most common from paternal allele
What are the symptoms of achondroplasia?
Short stature
Short proximal limbs
Enlarged head with bulging forehead
Normal longeivity, intelligence, and reproduction
What is the cause of thanatophoric dwarfism?
FGFR3 mutation, GoF
Most common lethal dwarfism
“Cloverleaf” skull
What is osteopetrosis?
Diffuse systemic bone sclerosis
“Marble bone disease”
What are the possible causes of osteopetrosis?
Reduced osteoclast bone resorption, cannot acidify pit
Defect in RANKL - not enough OC activity
LRP5 GoF