USING STEFIN B AS A MODEL AMYLOIDOGENIC PROTEIN –OVERVIEW
Abstract
Our in vitro studies of human stefin B are described. Human stefin B (cystatin B) genewas reported as the first gene of the two known genes, whose mutations cause progressivemyoclonus epilepsy of type 1 (EPM1), also known under the name Unverricht-Lundborgdisease. The product of the gene, stefin B, is a globular protein of 98 amino acids and nodisulphide bonds. We have characterized this protein thoroughly: from structure, tofolding, stability and aggregation. The main focus of this review is on the protein’s ability toundergo amyloid fibril formation. This is not something special to stefin B (any proteincan under certain circumstances transform into amyloid-fibrils) yet this protein proved asa very suitable model system showing all the characteristics of other more well knownsystems. It may have some advantages over amyloid-beta or prion peptide studies, forexample, it is easier to isolate its oligomers and its aggregates are not infectious. In theIntroduction, connection of the process of amyloid-fibril formation to neurodegenerativedisease is discussed. Relevance of the molecular, in vitro studies to understand the molecular basis of neurodegenerative pathology is explained. What is known about the structureand function of cystatins and what has been learnt from studies of amyloid-fibril formation of stefin B, is described next. The final chapter is devoted to EPM1. An observation wasmade that some of the EPM1 mutants have changed aggregation properties, which mayhave implications for pathology.Downloads
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