Journal of Cell Science and Mutations

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Journal of Cell Science and Mutations 44 7897 074717

ACHONDRIOPLASIA TOP OPEN ACCESS

Achondroplasia may be a genetic disease whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is usually of normal length. Those affected have a mean adult height of 131 centimetres (4 ft 4 in) for males and 123 centimetres (4 ft) for females. Other features include an enlarged head and prominent forehead. Complications can include apnea or recurrent ear infections. The disorder doesn't generally affect intelligence.
Achondroplasia is caused by a mutation within the fibroblast protein receptor 3 (FGFR3) gene that leads to its protein being overactive. The disorder has an autosomal dominant mode of inheritance, meaning just one mutated copy of the gene is required for the condition to occur. About 80% of cases result from a replacement mutation, which originates within the father's sperm. the remainder are inherited from a parent with the condition. the danger of a replacement mutation increases with the age of the daddy . In families with two affected parents, children who inherit both affected genes typically die before birth or in early infancy from breathing difficulties. The condition is usually diagnosed supported the symptoms but could also be confirmed by genetic testing. First-generation therapies directly targeting FGFR3, like kinase inhibitors and neutralizing antibodies, designed for targeting FGFR3 in cancer, are still within the preclinical trial and have yet to translate into the management of achondroplasia. However, more research into long-term effectiveness and safety of this strategy is required . Direct targeting of therapeutic agents to growth plate cartilage may enhance efficacy and minimize side effects of those and future therapies.
Further research is required to validate these approaches in preclinical models of achondroplasia.

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