The association that represents all NBIA disorders in Poland has awarded a research grant for €59,000 ($71,571 U.S. dollars) to two researchers in a German Research Center who are investigating still-unanswered questions about the underlying causes of MPAN.
MPAN, which stands for mitochondrial membrane protein-associated neurodegeneration is caused by mutations of the C19orf12 gene.
Dr. Arcangela Iuso, researcher
Dr. Ana Messias, researcher
They also will use several molecular biology and biochemical methods to compare skin cells of MPAN patients to the cells of unaffected MPAN carriers (parents) and other healthy individuals. They want to see if there are significant differences between the cells of each group.
The researchers also will examine the proteins that are produced from the C19orf12 gene mutations. They will compare the normal protein found in healthy individuals to the mutated version that is found in individuals with MPAN.
The goal of comparing the healthy and MPAN cells and non-mutated proteins to the mutated ones is to find some differences that could be used to develop a therapeutic approach for MPAN. The researchers will then test different drugs that could reverse the cell damage in MPAN individuals. The team’s ultimate goal is to identify successful MPAN therapies.
Iuso and Messias will be collaborating and exchanging information with Drs. Marta Skowronska and Tomasz Kmiec, clinicians who see MPAN patients in Poland. Poland has the largest cohort of MPAN patients in the world, with over 45 individuals diagnosed to date.
NBIA Poland will support this project by facilitating scientific exchange between the Munich researchers and the Polish researchers and by making the MPAN patient community aware of the importance of donating biosamples for the research project.
Anyone interested in donating a biosample to the research group should contact Dr. Maciej Cwyl, President of NBIA Poland at firstname.lastname@example.org.