Characterization of the Molecular Defects in a Mouse Model for the AEC Syndrome

December 2007
By Caterina Missero, PhD, CEINGE Biotecnologie Avanzate SCarl, Center for Genetic Engineering

AEC syndrome is caused by mutations in the p63 gene, a crucial regulator of skin development. Our recent studies suggest that alterations in the skin mechanical resistance due to altered p63 function, may be a primary cause of skin erosions in AEC patients. To test this hypothesis, we will use a mouse model that is being generated in our laboratory, in which an AEC mutation is introduced in an otherwise normal mouse. Using post–genomic tools, the goal is to identify the pathogenesis of the disease, and the molecular pathways that are affected by mutant p63 during embryogenesis before the onset of the disease. This characterization will shed light on the pathogenesis of AEC syndrome and will ultimately lead to testing and developing novel pharmacological treatments.

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