A Central Role for Protein Aggregation in Neurodegenerative Disease; Mechanistic and Structural Studies of Human Stefins

Saša Jenko Kokalj, Veronika Stoka, Manca Kenig, Gregor Gunčar, Dušan Turk, and Eva Žerovnik*
Department of Biochemistry and Molecular Biology, Jožef Stefan Institute, Jamova 39, SI-1000 Ljubljana, Slovenia

Abstract
Common cellular and molecular mechanisms underlie different neurodegenerative diseases, from Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis to sporadic prion diseases. The molecular mechanisms include aberrant protein folding and aggregation in the form of extracellular plaques or intracellular inclusions. Deeper understanding of the detailed mechanism of protein aggregation and cellular toxicity should lead to rational drug design for this type of disease. Our studies of human stefin B, a model amyloidogenic protein, will be reviewed. The studies range from establishing the mechanism, imaging the fibrillar and prefibrillar species by transmission electron microscopy (TEM) and atomic force microscopy (AFM), to structural studies of the precursor oligomeric states.

 Key words: amyloid-fibril, conformational disease, cystatins, domain-swapped dimer, protein folding