A treatment that keeps you going
What is Chaperone Therapy?
Enzymes are proteins that are integral to various bodily functions. All proteins are made from information "written" in our DNA's. After that genetic information is read and enzymes are made, they need to fold to work/function properly. Genetic mutations can cause proteins to mis-fold, hence these proteins can not function properly which, in turn, can cause an array of symptoms and disorders, including Aspartylglucosaminuria.
Prof. Tikkanen group focuses on characterization of the molecular consequences of the AGU mutations. The goal of her work is to develop therapies for individual AGU mutations. Chaperones are molecules that help protein fold correctly, restoring regular enzyme activity. The group have developed two Chaperone therapies that are currently tested in patients (Banning et al. 2016). An investigator-initiated clinical trial with one of these substances (https://www.clinicaltrialsregister.eu/ctr-search/trial/2017-000645-48/FI) is currently undergoing in Finland, together with Dr. Minna Laine, a child neurologist at Helsinki University Hospital.
More information on this and other work (ex.: method of increasing enzyme activity for nonsense mutations combined with certain missense mutations or treatment for gene variants that result in deficient splicing of the mRNA) of Prof Tikkanen can be found here.
Chaperone therapy have to be taken by a patient on a daily basis, several times a day.