First Online Lecture: 28 Participants at Lecture on BPAN Research in Tübingen

On February 10, 2021 Hoffnungsbaum e.V. launched a new online service offering for our families, especially in German-speaking countries. It is intended to be a loose sequence of video meetings on various topics relevant to NBIA sufferers. We also welcome suggestions for topics.

In the kick-off meeting, the main topic was beta-propeller protein-associated neurodegeneration (BPAN), now one of the most common NBIA variants. In addition to the iron accumulation in the brain characteristic of NBIA, BPAN leads to a limitation of cognitive and motor abilities and is associated with epilepsy, at least in phases, in almost all patients.

Prof. Dr. Tassula Proikas-Cezanne, Professor at the Eberhard Karls University of Tübingen and head of the "Autophagy" laboratory at the Interfaculty Institute for Cell Biology, spoke about "The importance of the WDR45/WIPI4 gene for autophagy and BPAN.", followed by an exchange of ideas with a question and answer session. The event lasted about 1¼ hours. In addition to the more than 20 participants from the circle of NBIA families, 5 treating physicians of children with BPAN were also present to learn about the disease background of their young patients.

During the lecture, Ms. Proikas-Cezanne first explained the function of autophagy. She is a proven expert on this important cellular process, in which degradation products that are no longer needed are collected and recycled in the body's cells. The gene WDR45 encodes the protein WIPI4, which is important for proper autophagy function. Gene and protein were discovered by Ms. Proikas-Cezanne. That mutations in the WDR45 gene cause a particular NBIA disease was then established by American and German researchers from the TIRCON consortium, who named it Beta-Propeller Protein-Associated Neurodegeneration (BPAN).

In the meantime, the actual gene discoverer is also doing research on BPAN herself and summarized the current state of research on the function of the WDR45 gene for the participants. She vividly described the most important processes that are impaired in the affected cells. Finally, she explained her current research project, which is based on the analysis of skin samples obtained from patients and their close family members.

With her research group, Ms. Proikas-Cezanne focuses on deciphering the causes leading to BPAN disease in the biochemistry of brain cells in order to contribute to future therapies.