New research project on BPAN in Tübingen

from | December 5, 2019

Tübingen research group led by Professor Tassula Proikas-Cezanne and Hoffnungsbaum e.V. join forces in the research of BPAN

Deciphering the causes of rare, neurodegenerative diseases is a lengthy process that is associated with a lot of hope and great suffering for those affected. In a new research project, Professor Tassula Proikas-Cezanne from the University of Tübingen will investigate the molecular causes of the rare disease "BPAN (beta-propeller-associated neurodegeneration)". She works with doctors in Tübingen, London and Copenhagen as well as the patient organisations "Hoffnungsbaum e.V." in Germany and "BPAN Warriors" in the USA to explore the cellular causes and potential therapeutic options. The project is funded by the German Research Foundation (DFG) as part of the Frankfurt Collaborative Research Centre SFB 1177.
BPAN (beta-propeller-associated neurodegeneration) is a very rare, congenital neurodegenerative disease caused by a mutation of the WDR45/WIPI4 gene on the X chromosome. Patients are characterized from birth by a severe developmental disorder associated with epilepsy, mental and physical disabilities, and pronounced impairments in language acquisition. Later, painful muscle cramps and symptoms of Parkinson's disease set in. The life expectancy of patients is significantly shortened, and so far there is no therapy. BPAN belongs to a group of more than ten disorders called NBIA (neurodegeneration with iron deposition in the brain). In Germany, about 20 patients with BPAN are known.

Autophagy researcher Professor Tassula Proikas-Cezanne, molecular biologist at the University of Tübingen and discoverer of the WDR45/WIPI4 gene, will be researched over the next four years as part of the Collaborative Research Centre SFB 1177 ("Molecular and Functional Characterization of Selective Autophagy", Spokesperson: Prof. Dr. Ivan Dikic, Goethe University, Frankfurt a.M.) to investigate the process of autophagy in brain cells of BPAN patients. A few years ago, Proikas-Cezanne recognized that the WDR45/WIPI4 gene plays an important functional role in the process of autophagy. Autophagy is a cellular degradation and renewal system that is disrupted in the nerve cells of patients of many neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. Due to the mutation in the WDR45/WIPI4 gene, autophagy in BPAN is severely impaired, but the causative molecular mechanisms are unknown. The scientist wants to elucidate these mechanisms, and she will work closely with neurologist Professor Matthis Synofzik from the University Hospital Tübingen and other colleagues in London and Copenhagen.

The researchers are supported by "Hoffnungsbaum e.V.", the German patient organization for the promotion of research and treatment of NBIA. Over the past 15 years, the association has initiated, co-financed or supported several research projects and is also very well networked internationally. "In this strategic partnership, we can act as a contact and information interface between the researchers and our patient network. In addition, of course, there is the experience of the affected families about their children's BPAN disease," explains Angelika Klucken, Chair and Co-Founder of "Hoffnungsbaum e.V.".

"I am glad and thrilled that we have found such a renowned and committed comrade-in-arms in Professor Proikas-Cezanne in the fight against BPAN," says Markus Nielbock, father of seven-year-old Emilia, who suffers from BPAN, and second chairman of "Hoffnungsbaum e.V.". " We will support her and Professor Synofzik to the best of our ability."

For Tassula Proikas-Cezanne, too, this research project stands out from other projects in her research group. "The fact that a spontaneous mutation of a gene I discovered years ago can trigger such a serious disease obliges me to focus our research interests here," she says. "The personal contact with children suffering from BPAN also motivates me to contribute to alleviating their suffering through basic research."

Contact us
Prof. Dr. rer. NAT. Tassula Proikas-Cezanne
University of Tübingen
Department of Molecular Biology
Interfaculty Institute of Cell Biology (IFIZ)
Phone +49 7071 29-78895


Source: Press release of the University of Tübingen

Subscribe to our Hoffnungsbaum newsletter!

With our newsletter e-mails you will receive valuable information about NBIA. If you would like to receive additional information on individual NBIA variants or special information for researchers/clinicians in addition to the general newsletter, please click here: Subscribe to additional information

Privacy policy

You have successfully registered!