Research by the SAS brings hope for the treatment of rare genetic disease
The latest international study by a team of scientists from the Institute of Chemistry of the Slovak Academy of Sciences, in collaboration with a team from Portugal led by Prof. Paulo Videira, has brought new insights into the genetic disease PMM2-CDG (congenital glycosylation disorder type 1a), for which there is currently no effective treatment, even though its prevalence is estimated at 1:20,000.
Patients with PMM2-CDG have impaired glycosylation, an essential protein modification crucial for the proper functioning of the immune system. The study shows that this defect also interferes with the signalling pathway mediated by the TNFR1 receptor and its ligand TNFα. This system normally helps the body respond to infections and inflammation. As a result, the patient's cells do not function properly: when TNFα is activated, they do not respond as they should and produce fewer of the important signals needed for an immune response. This explains why people with PMM2-CDG suffer from frequent infections or inflammation, the exact cause of which has not yet been clarified.
The main significance of this study is that it identified the TNFR1 receptor as a promising target for future therapy. The scientific team's findings thus represent an essential step towards finding an effective treatment for this disease. This could improve the quality of life of patients with PMM2-CDG and give hope to families living with this diagnosis. The study is available HERE.
Contact: Ing. Zuzana Pakanová, PhD; zuzana.pakanova@savba.sk; 02/59410351
Source and photo: Institute of Chemistry SAS