Alpha1-antitrypsin (AAT) deficiency is the most common hereditary disease. Developing effective affordable therapeutic interventions to prevent disease phenotype is still a major medical challenge.
An increasing number of human disorders, such as Alzheimer's and Parkinson's disease, result from the aggregation of misfolded proteins. Similarly, AAT deficiency that is caused by mutations in the AAT gene, leads to the accumulation of AAT polymers within the endoplasmic reticulum of hepatocytes.
Further details: Intrabodies prevent protein misfolding