I recently travelled to Zaragosa, Spain, to attend the eighth European Meeting on Mitochondrial Pathology (Euromit 8). The conference was extremely relevant to the MitoSENS project, and I was very lucky to have the opportunity to attend.
For me, the most striking aspect of this scientific conference was the cross-sectional interaction between clinicians and basic scientists. There were medical doctors describing symptoms of mitochondrial diseases, reporting on clinical trials, and proposing new ideas for treatments. I have never met so many MDs who were so interested in the basic science of a cellular component. It was interesting to see how much the basic scientists relied on data from patients to learn about the function of mitochondrial genes, by studying the patient symptoms and utilizing mutant tissues and cell lines derived from them. We at the SENSF-RC are going to be relying on some such cell lines in the near future.
One inspiring story was of a treatment for a disease called MNGIE (mitochondrial neurogastrointestinal encephalopathy) which is both debilitating and fatal. The gene mutated in this disease (thymidine phosphorylase) is a secreted enzyme which prevents toxic levels of thymidine from building up in the body. “By golly” you exclaim, “secreted enzyme deficiencies can be treated using enzyme replacement therapy!” Well, the researchers (data presented by Dr. Michio Hirano) thought the same thing, so they approached drug companies to ask them to make it. The drug companies were interested — until they found out how few patients there are to treat and how little money they would make from such a treatment. The clinical researchers pressed on, however, with an alternative approach. They hypothesized that normal cells from a healthy donor would secrete some enzyme that could help the patients. They were right; after successful bone marrow transplants, many patients made dramatic recoveries. The researchers are now working on refining the procedure so that they can help more people, and treat everyone who suffers from this debilitating disease.
Euromit was a great opportunity to interact with researchers relevant to the MitoSENS project - in particular, with Marisol Corral-Debrinski and her fantastic research group. It is her technique of co-translational import of allotopically expressed proteins upon which our current efforts are built. I shared our progress over the past 6 months with her, we talked shop, and she had some great suggestions. Most importantly, she seems to think we are on the right track, and her own research is progressing most impressively. It will be very exciting to witness the progress of her clinical trials treating blindness caused by LHON over the coming months and years.
I returned from Spain energized and motivated to conquer MitoSENS once and for all!