BMC Seminar, Friday September 1st at 14:00 in Askja, room N-132
Title: The molecular pathology underlying TP-63-related ectodermal dysplasias
Abstract: Missense mutations in the TP63 gene are linked to a subset of severe developmental disorders, termed ectodermal dysplasias (EDs). Our work focuses on two EDs, ankyloblepharon ectodermal dysplasia and clefting (AEC) and ectrodactyly ectodermal dysplasia and clefting (EEC). These diseases affect several organ systems. Our team effort is focused on skin and skin appendage defects which occur in both diseases, as well as ocular (cornea) defects that are observed in EEC patients. We hypothesize that defects in the homeostasis and the differentiation of epithelial stem cells, which maintain the epidermis and the cornea, occur in ED patients. In terms of epidermal defects observed in AEC, our preliminary data demonstrated defects in cell-cell and cell-ECM adhesion of keratinocytes, which could explain the tissue fragility observed in these patients. Further, our results suggest that impaired desmosomal signaling might contribute to epidermal differentiation defects in AEC patient’s skin.