Awarded Grants

Awarded Grants

MDBR, BPAN Million Dollar Bike Ride MDBR, BPAN Million Dollar Bike Ride

Deciphering the causes of mitochondrial network disruption in WDR45-defective cells and their contribution to the BPAN pathology

Fulvio Reggiori

University Medical Center Groningen (UMCG)

$71,471

Awardee: Fulvio Reggiori

Institution: University Medical Center Groningen (UMCG)

Award Amount: $71,471

Funding Period: February 1, 2021 - January 31, 2022

Summary:

Four researchers (Mario Mauthe, Fulvio Reggiori, Muriel Mari and Lara Barazzuol) at the University Medical Center Groningen 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). BPAN is caused by mutations in the WDR45 gene. While WDR45 appears to be involved in autophagy, the precise molecular function and contribution of this protein to this pathway remains unclear. Thus, although the genetic cause of the disease is known, the cellular alterations leading to 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, in particular a defect in the mitochondria network organization that we and others, have observed. This project will benefit of an ongoing collaboration between the awarded groups, Prof. Marina De Koning-Tijssen and the Dutch NBIA foundation (Stichting IJzersterk).

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