ReviewConformational disease
Section snippets
Prion proteins
It is now believed that the spongiform encephalopathies are due to a conformational change, with consequent self-association, in the prion proteins of the brain.4 Although the structural details are not known, the proposed change involves a transition from a primarily helical structure5 to a primarily β-sheet structure—as shown diagrammatically6 in figure la. This conformational change in prion proteins can occur spontaneously as a result of a genetic mutation in the prion—as in the rare
Conclusion
The grouping of diseases on the basis of their abnormalities provides a better understanding of what are often diverse clinical presentations. Such categorisation is seldom clear-cut, and the conformational abnormalities can range in severity from the most gross forms with misfolding at synthesis and a consequent straightforward genetic deficiency. Here we have reserved the concept of conformational disease for the more subtle folding defects, which are compatible with normal production of a
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