BPAN study examines how mutated gene affects individuals

October 2020

A research team in the Netherlands is making progress in its study of how mutations in the WDR45 gene affect beta-propeller protein-associated neurodegeneration (BPAN).


Dr. Mario Mauthe from the University of Groningen, Netherlands, received a $45,000 grant from the NBIA Disorders Association and this update is the results from that work.

The team is being led by Dr. Mario Mauthe of the University of Groningen, who in 2018 received a $45,000 grant from the NBIA Disorders Association and is updating us on the results from that work.

BPAN is one of the most common NBIA disorders, which share a common characteristic of iron accumulation in the brain. Researchers are trying to understand what causes the iron to collect in BPAN and its impact on disease symptoms.

The researchers first investigated whether a WDR45 mutation caused disruption in a cellular process known as autophagy, in which cells recycle damaged materials and get rid of waste. They wondered if that could explain the iron accumulation observed in the brains of BPAN patients.

The team observed that the absence of the WDR45 gene does not disrupt the natural process of autophagy but that cells carrying the mutation have defects in the mitochondria, which are the energy-producing compartments within a cell. Because other NBIA patients have mitochondrial defects, it could be common to multiple NBIA diseases.

Mauthe’s team is investigating whether or not the defective gene causes issues with autophagy specifically targeting mitochondria. More research is needed to sustain their hypothesis and to understand why this defect occurs and whether treating it would be a valuable avenue for future therapies.



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