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Achondroplasia

Terms in this set (13)

what is achondroplasia
a form of short-limbed dwarfism where the cartilage does not convert to bones
What is the most common type of short-limbed dwarfism
achondroplasia
What is the mechanism of achondroplasia
gain of function mutation in FGFR3 gene (there are 2 different amino acid changes that can cause: glycine switch to either cysteine or arginine)
What is the location of FGFR3
4p16
What is the normal function of FGFR3 protein
regulate bone growth by limiting formation of bone from cartilage (ossification)
What pathway does FGFR3 use
MAPK and STAT
is achondroplasia mutation in FGFR3 inherited or de novo
usually de novo
Phenotypes of achondroplasia
-hypotonia in infants
-large head
-short fingers
-spinal stenosis: narrowing of spinal cord
-short stature
how is achondroplasia diagnosed
-prenatal ultrasound
-amniocentesis
-CVS
-X-Ray
-CT
What is the treatment for achondroplasia
none known but can do limb lengthening
Micro-Computed Tomography method
uses X-rays to create cross-sections of an object and recreate 3D image without destroying original
how was trabecular bone changed in achondroplasia patients
thicker osteoid but decreased mineralization
in mouse model with mutant FGFR3 what was the effect on Erk1/2 and p38 levels
phosphorylated levels were increased which lead to increased osteoblast differentiation and impaired mineralization
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