In single-gene disorders, such as α1-antitrypsin deficiency (AATD), hemophilia B (clotting factor IX deficiency), and lecithin-cholesterol acyltransferase deficiency (LCATD), a gene mutation causes missing or dysfunctional protein synthesis, which in turn can lead to serious complications for the patient affected. Furthermore, single-gene disorders are associated with severe, early-onset conditions and necessitate expensive lifelong care. Today, therapeutic treatment options remain limited, cost-intensive, or ineffective. Therefore, the novel mRNA-based therapeutic strategy for the treatment of single-gene disorders, which is based on the induction of de novo synthesis of the functional proteins, has extraordinary potential. After the delivery of the specific mRNA to the target cells, the desired protein is expressed by the cells’ own translational machinery, and hence, a fully functional protein replaces the defective or missing protein. mRNA therapy provides an innovative, highly promising, and inexpensive therapeutic approach and will thus lead to new advances in the treatment of single-gene disorders.
Part of the book: Modern Tools for Genetic Engineering