ecm
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what are the causes and symptoms of osteogenesis imperfecta?
defective collagen type 1 synthesis point missense mutation glycine –> bulkier amino acid fragile bones, blue sclera, weak tendons, thin skin
what is the inheritance pattern of type 1 osteogenesis imperfecta?
autosomal dominant
what are the two types of osteogenesis imperfecta and how severe are they?
OI 1 - mildest and most common OI 2 - very severe, de novo, lethal
what causes Marfan’s syndrome?
mutant, misfolded fibrillin which causes elastin to be too stretchy
what are the symptoms of Marfans?
tall long arms and legs loose joints floppy cardiac valves eye problems aortic aneurysms spider fingers
what is the inheritance pattern of Marfan’s?
autosomal dominant
explain the cell migration model
actin filaments polymerise to change the shape of the cel adhesion proteins attach at the leading edge detach from trailing edge
what happens in cell migration on a flat surface with no ECM?
cell detachment and apoptosis
how do cancer cells impact cell migration and the ECM?
cleave cell adhesion molecules break down ECM growth factors and cytokines facilitate migration and metastasise
what are the functions of the ecm?
• Functions as adhesive substrate • Provides structure • Presents growth factors to their receptor • Stores growth factors • Senses and transduces mechanical signals
what is in ECM/
o Collagens o Elastin o Glycoproteins o Proteoglycans
how are macromolecules secreted and how do they change outside of cells?
secreted as small precursors and they polymerise once outside cells
describe the structure of collage?
triple helix made up of glycine and either proline or hydroxyproline (every 3rd amino acid is glycine)
how much of the total body mass is collagen?
25%
how many types of collagen are there?
19
what are the 2 main families of collagen?
o Fibril forming – Type I, II and III o Non-fibrillar – the rest
where is type 1 collagen found?
skin tendon bone most loose/dense CT ligaments
where is type 2 collagen found?
hyaline cartilage
where is type 3 collagen found?
lymphoid organs
where is type 4 collagen found?
basement membrane (along with type 6)
what is osteogenesis imperfecta?
brittle bone disease
what are the genes affected in type 1 osteogenesis imperfecta?
Chromosome 17, COL1A1 gene Chromosome 7, COL1A2 gene
what is the mutation which causes osteogenesis imperfecta type 2?
new mutation - de novo
where is elastin found?
blood vessels, lungs, ligaments and dermis of skin