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 those mitochondrial fatty acids. This process is being increasingly recognized as an important influence on OXPHOS and interconnected with other important metabolic pathways in the body.
There are 14 known MEPAN patients in the world today, spanning three different continents. The disorder is passed on in an autosomal recessive manner, meaning a patient inherits a copy of a faulty 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, have trouble speaking, and can be wheelchair-bound. More patients with MEPAN are certain to be found, as researchers gain a better understanding of our mitochondrial and their importance to other metabolic processes.