A genetic cure for the disease would require completely replacing the mutated gene because any
remaining dysfunctional protein would continue to form damaging aggregates.
Autophagy is the process by which cells capture
large dysfunctional proteins, aging cell components, and invading pathogens into packages to be disposed of (7).
More than half have a form of the disease called EB simplex, which is caused not by a missing protein, but by mutations that produce an active but
dysfunctional protein.
Since
the dysfunctional protein, IkBe, normally functions as an inhibitor, the mutation leads to activated signalling compared to the normal situation», says SciLifeLab faculty member Richard Rosenquist who led the study.
This involves the cells breaking down and metabolizing broken and
dysfunctional proteins that build up inside cells over time.