Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.

摘要: Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), severe achondroplasia with developmental delay acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We review clinical, epidemiological, radiological, molecular aspects, signaling pathways involved these conditions. It is known that FGFR3 essential regulate bone growth. The signal transducers activators of transcription (STAT1) pathway inhibition chondrocyte proliferation, mitogen-activated protein kinase (MAPK) differentiation. Hence, pivotal differentiation proliferation through two different active pathways. Recent studies on mechanisms demonstrated Snail1 participates control longitudinal appears be transduce during chondrogenesis. This result was confirmed a newborn infant TD, suggests new non-surgical therapeutic approaches, is, as encouraging target.