Association between mutations in the KRT5, KRT14 and COL7A1 genes in two types of cancer

ISBN-13: 9786208302504 / Angielski / Miękka / 2024 / 52 str.

Paulo Roberto Queiroz; Mateus Costa; Laura Lisieux

Opis

Epidermolysis Bullosa (EB) is part of a group of dermatological genetic diseases characterized by the formation of blisters on the skin due to defects in structural proteins, which are important in the adhesion of the epidermal and dermal-epidermal layers. The aim of this study was to relate the phenotypes of simple and dystrophic EB based on the mutations found at the sites of the genes that modify the function of the keratin-5, -14 and type VII collagen proteins. The methodology was based on an experimental study using bioinformatics programs to elucidate the abnormal protein structures of keratin-5 and keratin-14 and type VII collagen, which represent the main subtypes of Simple EB and dystrophy. After observing the changes in the three-dimensional structures of the genes in question using the SWISS-MODEL program, it was possible to demonstrate mutations that occur at specific sites in the genes, responsible for changes associated with epidermolysis and that intermolecular and intramolecular interactions are important for maintaining the three-dimensional structure and preserving the normal function of the proteins.