Mitochondria are traditionally thought of as the 'powerhouses' of the cell - generating the energy our bodies need by generating ATP via a series of biochemical processes collectively known as oxidative phosphorylation, or "OXPHOS". Our mitochondria also synthesize their own fatty acids, and the process is 'highly conserved' in evolutionary terms, meaning that it's found across a range of different species, including yeast, worms, flies, and mammals. MEPAN Syndrome is caused by the body's inability to make some of those mitochondrial fatty acids.
There are 18 known MEPAN patients in the world today, spanning three different continents. The disorder is inherited in an autosomal recessive manner, meaning a patient inherits a faulty copy of the MECR gene from each parent. MEPAN may be more prevalent among Ashkenazi Jews, as five of the first seven MEPAN families shared some Jewish heritage. MEPAN patients have trouble with movement, coordination and balance, may have trouble speaking, since the area of the brain that helps govern voluntary movement is affected. More patients with MEPAN are certain to be found, as genetic testing becomes more common and researchers gain a better understanding of how mitochondrial function impacts our overall health.