Báo cáo Y học: BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro Implications in the BIGH3-linked corneal dystrophies

Amyloid deposits with Arg124 mutated TGFBI protein havebeen identified inautosomal dominant blindingcorneal dystrophies.We assessedin vitrothe mechanisms determin-ing TGFBI protein amyloid transformation involving mutations of Arg124.Eight peptides synthesized following the TGFBI protein sequence, centered on codon Arg124 holding the previously reported amyloidogenic mutations and the respective controls were studied.Cys124 andHis124 mutated peptide preparations contained significantly higher amounts of amyloid than the native peptide....