What is the molecular biology of Aarskog Syndrome?

May 16 23:49 2019 Print This Article

It occurs due to the mutation in FGDI gene. It encodes a GEF which refers to guanine nucleotide exchange factor. It activates a cdc 42 which is a member of Ras homology. It belongs to the family of p 21 GTPase.

A cdc 42 acivates the fibroblasts which forms the filopodia. It also forms the cytoskeletal elements which help in the cellular signaling, adhesion and migration. The FGDI protein activates the JNK which refers to the c Jun N terminal Kinase. It regulates the growth of cell, apoptosis and cellular differentiation. The FGDI protein forms a precartilaginous mesenchymal condensation. It forms the periosteum and perichondrium. It also forms the chondrocytes and osteoblasts.

So, the multiple skeletal cells are formed by the protein FDG1. This protein has been studied in the mouse embryo and has proved a vital role in understanding the pathogenesis of this syndrome. The abnormality of FDGI protein signaling has resulted in the defective embryonic development along with abnormal development of endochordal and intramembranous bone.

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