Diseases Associated With ERAD-malfunctioning
As ERAD is a central element of the secretory pathway, disorders in its activity can cause a range of human diseases. These disorders can be classified into two groups.
The first group is the result of mutations in ERAD components, which subsequently lose their function. By losing their function, these components are no longer able to stabilize aberrant proteins, so that the latter accumulate and damage the cell. An example of a disease caused by this first group of disorders is Parkinson's disease. It is caused by a mutation in the parkin gene. Parkin is a protein that functions in complex with CHIP as a ubiquitin ligase and overcomes the accumulation and aggregation of misfolded proteins.
In contrast to this first group of disorders, the second group is caused by premature degradation of secretory or membrane proteins. In this way, these proteins aren’t able to be deployed to distal compartments, as is the case in cystic fibrosis.
Read more about this topic: Endoplasmic-reticulum-associated Protein Degradation
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