Bone path sem3 mini2

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  1. FGF
    • Fibroblast Growth Factors (FGF)
    • 23 types
    • In development FGF regulate proliferation migration and differentiation
    • Adult FGF functions in response to injury and tissue damage
  2. FGFR
    • Fibroblast Growth Factor Receptors
    • 4 types
    • Protein tyrosine kinase leading to transcription factor activation
    • FGFR-3 dysfunction causes achodroplasia (auto-Dom genetic disease)
  3. FGFR-3 mutation
    • Higest mutation rate known
    • Causes Achondroplasia (and other variants of hypochondroplasia, thanatophoric dysplasia)
    • FGFR3 negativly regulate bone growth so increased activation through mutation results in dwarfism 
  4. Achondroplasia
    • Auto-Dominant FAFR-3 defect (although 80% of cases are new mutations rather than inhereted)
    • Glycine switch to Arg @280AA (G280R)
    • Homozygous G280R offsprings die before birth
    • Presents with: short stature, disproportionate arms and legs(micromelia), large head, frontal bossing and mid-face hypolasia
  5. Hypochondroplasia
    • FGFR-3 mutation Lys650Asn
    • Similar to Achondroplasia
    • Short stature, micromelia (short limbs) and large head 
  6. Thanatophoric Dysplasia
    • FGFR-3 Genetic disease
    • Truely consitituate activation of FGFR3 without FGF stimulation
    • Lethal 
  7. Collagen structure and defect
    • Intracellular synthesis 
    • Procollagen
    • Topocollagen
    • Collagen fibrils  
  8. Osteogenisis imperfecta
    • Type I--> fragile bones (normal everything else)
    • Type II--> lethal (glycine subsitution)
    • Type III--> progressive deformity
    • Type IV--> bowing femurs
    • Collagen amino acid subsitution causing lose packing and inappropriate hydroxylation when outside cell
  9. Erhlers-Danlos
    • Type I&II --> classic with joint hypermobility, skin hyperextensibility, cigarette paper scars and pigment accumulation (type I and V collagen defect)
    • Type IV--> no hyperflexibility or hypermobility. most lethal due to rupture of the arteries, aorta, colon and uterus (type III collage)
    • Type VI--> Marfanoid habitas (long arms) hyperextensibility and join mobility. Scoliosis. Intraoccular bleeding and blindess (lysyl hydroxylase defect)
    • Type VII --> all disorders that fails to convert type I procollage to collage. due to N protease defect or N protease cleavage site  
  10. Marfan's syndrome
Card Set
Bone path sem3 mini2
bone blood heme and lymph
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