Mitochondrial Disease Awareness Week is a great time to launch the MEPAN.org blog and share why I built this website - to create more awareness about MEPAN Syndrome, a rare disease of mitochondrial fatty acid synthesis (mtFAS) that affects my two sons, Carson and Chase. It presents primarily with dystonia, which is neurological condition characterized by abnormal movements and muscle tone, meaning they can't walk or produce speech normally. MEPAN is unique that it mostly spares cognition and affects no other organ system except the brain (basal ganglia) and optic nerve. This is unlike many other types of mitochondrial disease, which can be devastating to other organ systems. We were also fortunate to receive a diagnosis for MEPAN in February 2018, which is also not the case for about two-thirds of rare disease patients --- the majority of whom are children.
Since that time I have spent time doing online research and networking with researchers, clinicians, and families from around the world to learn more about MEPAN, mtFAS, mitochondrial diseases, and other inborn errors of metabolism. What I have found is that despite the amazing advances in science and genetics, very little is known about mtFAS and its associated dysfunctions. So I continue to educate myself and connect with others to learn how to best help my sons. MEPAN only entered the literature in December 2016 as a single peer-reviewed paper (published by a truly international team of researchers and clinicians United States, Israel, Italy, Finland, Germany, Australia and Tunisia) that first described MEPAN and the MECR gene mutations they share that cause the condition. MEPAN shares similarities with many other genetic diseases and inborn errors of metabolism, in that there is a small patient population with a unique set of symptoms affected by mutations in a single gene among the 20,000+ we have in the human genome. Advances in genetic testing and their declining cost have made it easier for clinicians to find these previously unknown and undiagnosable mitochondrial conditions. But despite these gains, patients and families dealing with these conditions would all agree that the science of understanding how to treat the symptoms caused by genetic defects or correct them entirely needs to catch up -- QUICKLY.
There are clearly some immediate needs for mitochondrial disease patients: more data sharing and better communication between clinicians and researchers studying genetic diseases, more public and private funding to help spur the development of therapies and treatments to help patients and their families, and more collaboration from rare disease communities and nonprofits to work together and share information to help each other. MEPAN Syndrome and mtFAS is a great example of how this can happen, and this is what I'm working towards. Despite mtFAS being a highly conserved pathway found in yeast, there are still many unknowns, but we are learning more. Researchers such as Jared Rutter at the University of Utah and Alex Kastaniotis at the University of Oulu in Finland have published findings that point to mtFAS likely playing at least a supporting role in several other pathways, including Iron-Sulfur cluster function, cellular signaling and mitochondrial homeostasis. Patients suffering from Friedrich's Ataxia, Leigh's Disease or lipoylation defects can share similar symptoms with MEPAN patients, and may benefit from better understanding of MEPAN and mtFAS. By advancing the science hopefully we can find treatments that arrest symptoms of MEPAN and related genetic conditions, restore mitochondrial function, regenerate neurons and other damaged tissues and improve the lives of patients and their families.