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New therapeutic frontiers in the management of achondroplasia
2025-04-26 19:45:03| Spiritual Career Counseling
Download PDF Copy Reviewed Compuscript LtdApr 20 2025A recent publication in Genes & Diseases has delivered a compelling synthesis of the latest insights into the cellular mechanisms and therapeutic interventions for achondroplasia, the most common form of genetic dwarfism. This disorder stems primarily from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, which exerts widespread effects on skeletal development, leading to disrupted endochondral ossification, reduced chondrocyte proliferation, and abnormal bone formation.At the core of achondroplasia's pathology lies the hyperactivation of FGFR3, which impairs not only the growth of long bones but also affects cranial, spinal, and vertebral development. The article details how FGFR3 signaling suppresses critical pathways such as Indian hedgehog (IHH) and parathyroid hormone-related protein (PTHrP), and how its activation elevates cell cycle inhibitors, diminishes telomerase activity, and disrupts the...
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