asendusensüümi

Asendusensüüm is a term used in biochemistry and genetics to describe an enzyme that is produced by the body to replace a functional enzyme that is absent or deficient due to a genetic disorder. This approach is a form of enzyme replacement therapy, a medical treatment aimed at correcting the underlying biochemical defect in genetic conditions. In many genetic diseases, a specific gene mutation leads to the production of a non-functional enzyme or no enzyme at all. This deficiency causes a buildup of toxic substances or a lack of essential products, leading to disease symptoms.

Asendusensüümi therapy involves administering a purified, functional version of the missing or defective enzyme into the patient's body. This exogenous enzyme can then perform the necessary metabolic function, thereby alleviating or preventing the symptoms associated with the enzyme deficiency. The enzyme is typically produced using recombinant DNA technology, ensuring a consistent and safe supply.

This therapeutic strategy has shown success in treating a range of lysosomal storage disorders, such as Gaucher disease, Fabry disease, and Pompe disease. For example, in Gaucher disease, asendusensüümi therapy provides the functional beta-glucocerebrosidase enzyme, which helps break down the accumulating lipid glucocerebroside in cells. While enzyme replacement therapy is a significant advancement, its effectiveness and accessibility can vary depending on the specific disorder, the route of administration, and the enzyme's ability to reach target tissues. Ongoing research aims to improve enzyme delivery, stability, and reduce the cost of these treatments.