New BPAN mouse model from Munich now available for researchers

With the publication of a long-awaited paper on a BPAN mouse model, researchers around the world now have access to these mice for study.

Scientists led by Dr. Holger Prokisch from the Technical University of Munich have created a strain of mice by inactivating or switching off the gene associated with beta propeller protein-associated neurodegeneration (BPAN) systemically, i.e. throughout the body. BPAN is now considered the most common form of NBIA.

The new mouse model is also comprehensively characterized in the corresponding article by Dr. Arcangela Iuso (Helmholtz Zentrum München). It is reported that the mice showed increasing problems with the nervous system from the age of four months, accompanied by hearing and vision disorders. There was no iron accumulation in the brain of the mice.

However, specific biochemical changes indicate that in the absence of the autophagy gene WDR45, the mitochondria do not produce enough energy so that the affected cells cannot function properly. The paper shows that the knock-out mouse model complements the three other BPAN mouse models previously described in the literature and compares the available mouse models with each other. The systemic BPAN mouse developed in Munich represents another robust model to test drugs against the disease and to study how BPAN affects the body's systems and causes functional changes with health consequences.

The paper published in the journal "Mammalian Genome" is entitled "A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse". It is freely available in "Open Access" and can be downloaded at https://pubmed.ncbi.nlm.nih.gov/34043061/

Researchers who would like to order the mice for study purposes can do so using a form provided by Helmholtz Zentrum München at: https://www.infrafrontier.eu/search?keyword=EM:13607 The website points out that there may be delays in processing orders due to the pandemic.

The development of the BPAN mouse was funded by the NBIA Disorders Association Prokisch in the amount of 67,760 US dollars in 2015. However, personnel changes during the course of the project led to delays in the publication of the work and the provision of the mouse strain. It is thanks to Dr. Iuso's persistence with the publication and Dr. Prokisch's continued efforts that the mouse strain is now available to interested researchers.

Source: Newsletter of the NBIA Disorders Association from September 2021
translated using the free version of https://www.deepl.com/translator and revised by Angelika Klucken