Conference in New York 2019

This meeting, entitled “Alzheimer’s, Related Disorders and Autophagy“, brought together for the first time outstanding scientists from Germany and the USA in the fields of the most common neurodegenerative diseases such as Alzheimer’s, Parkinson’s, Huntington’s and ALS to exchange views on the differences and similarities between these syndromes. Particular attention was paid to the cellular process of autophagy, which is thought to play a key role in many of these diseases.

This rather new approach is being taken because even after many years of research, previous attempts to combat these diseases have largely been unsuccessful. Another reason is that there are often already findings on certain aspects of a disease, but these have been achieved in other fields of research and researchers from neighbouring disciplines know little about them. This is certainly true for NBIA and BPAN when looking into research on other neurodegenerative diseases and autophagy.

Prof. Christian Behl had invited Markus to inform about a neurodegenerative disease that is not caused by age, but by a genetic defect. Among the NBIA variants, there are some in which autophagy is disturbed. BPAN, for example, is one of them. But a connection to autophagy is also suspected in MPAN. As the father of a daughter with BPAN, this was of course a great opportunity to learn new things about current research progress, but also to make new contacts. It so happened that Markus met Sarah Chisholm there, mother of a daughter with BPAN and energetic activist who founded the initiative “BPAN Warriors” in the USA.

Video of the public event and panel discussion

The one-day workshop consisted of 14 presentations and plenty of room for discussion. As was to be expected, Markus did not understand everything by far, yet he was able to pick up on some interesting details also for Milly’s Mission, Hoffnungsbaum and NBIA. For example, in addition to autophagy, there is also mitophagy. While autophagy generally identifies non-functional and harmful cell bodies, captures them and breaks them down into their building blocks, mitophagy focuses on the mitochondria, i.e. the power plants of the cells. Special receptors distinguish between sick and healthy mitochondria. Both processes take place in different areas of the brain cells.

Furthermore, it was mentioned that a malfunction of autophagy can lead to an excess of calcium in the brain cells. This makes them more sensitive to electrical stimuli, which could be a cause of epilepsy. Laboratory experiments have shown that calcium blockers can normalise the irritability of these cells.

One result was particularly exciting, as there appears to be so-called “crosstalk” in genetic mutations on other body functions beyond the processes directly controlled by the gene and the disease syndromes. There is clear evidence that the sense of smell is altered in connection with impaired autophagy – at least in nematodes. Other impairments are not excluded.

Some presentations dealt with clinical applications and studies. It was shown, for example, that trials for the treatment of Alzheimer’s disease also fail because the previously defined criteria for success (clinical endpoints) were not achieved. An important lesson from these trials is to start with early forms of the disease and to include as many subgroups as possible in the study. For this, a meaningful patient register with as many cases as possible is essential. This also applies to NBIA diseases, for which there is already an international NBIA patient register.

With a short presentation, Markus was finally able to point out the work for Millys Mission and Hoffnungsbaum e.V. as well as NBIA and BPAN. This contribution met with great interest. Afterwards, several participants approached him and gave tips for helpful contacts or for strategic approaches to developing therapies.

The workshop concluded with a 90-minute public session. In addition to three lectures for the general public, it consisted of a panel discussion in which Markus participated as the only representative of a patient organisation. The discussion was divided into a moderated section with concrete questions and a public question round. Here Markus was obviously able to impressively describe the necessity of patient organisations like Hoffnungsbaum as well as the course of BPAN. Prof. Behl attested that his contribution had been very important. Our contact will continue in the future.

All in all, the short trip to New York was successful. Markus was able to gain many new impressions about details of autophagy and generate some interesting contacts that could certainly be helpful in the future.