Grant awarded to study BPAN pathology

In December 2020, four researchers (Mario Mauthe, Fulvio Reggiori, Muriel Mari and Lara Barazzuol) from the UMCG obtained a grant from the 2020 Million Dollar Bike Ride Grant Program. The project is entitled “Deciphering the causes of mitochondrial network disruption in WDR45-defective cells and their contribution to the BPAN pathology”.

ß-propeller protein-associated neurodegeneration (BPAN) is a rare condition belonging to a group of neurological disorders collectively known as neurodegeneration with brain iron accumulation (NBIA). It is caused by mutations in the WDR45 gene. While WDR45 appears to be involved in autophagy, its precise molecular function and contribution to this pathway remains unclear. Consequently, although the genetic cause of the disease is known, the cellular alterations that are responsible for causing the clinical manifestations in patients are still unknown.

This project aims at deciphering the underlying pathological causes of BPAN pathophysiology that are connected to autophagy but also investigating autophagy independent causes. This project is part of an ongoing collaboration between the awarded groups, Prof. Marina De Koning-Tijssen and the Dutch NBIA foundation (Stichting IJzersterk).