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

Authors:Martínez-Frías, María Luisa
Frutos, Cristina A. de
Bermejo, Eva
Nieto, M. Ángela
Keywords:Thanatophoric dysplasia, Short-limb dwarfism, Achondroplasia, FGFR3, Snail
Issue Date:Jan-2010
Publisher:Wiley-Blackwell
Citation:American Journal of Medical Genetics. Part a 152A(1): 245-255 (2010)
Abstract:Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We review the clinical, epidemiological, radiological, molecular aspects, and signaling pathways involved in these conditions. It is known that FGFR3 signaling is essential to regulate bone growth. The signal transducers and activators of transcription (STAT1) pathway is involved in the inhibition of chondrocyte proliferation, and the mitogen-activated protein kinase (MAPK) pathways are involved in chondrocyte differentiation. Hence, FGFR3 signaling is pivotal in chondrocyte differentiation and proliferation through these two different active pathways. Recent studies on the molecular mechanisms involved in chondrocyte differentiation and proliferation, demonstrated that Snail1 participates in the control of longitudinal bone growth and appears to be essential to transduce FGFR3 signaling during chondrogenesis. This result was confirmed in a newborn infant with TD, and suggests new non-surgical therapeutic approaches, that is, Snail1 as a new encouraging therapeutic target.
Description:11 páginas, 5 figuras, 1 tabla.
Publisher version (URL):http://dx.doi.org/10.1002/ajmg.a.33188
URI:http://hdl.handle.net/10261/32421
ISSN:1552-4825
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Appears in Collections:(IN) Artículos

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