Defects in mtFAS are beginning to attract more attention from both basic and translational researchers around the world, who recognize the significance of this highly conserved pathway in mitochondrial dysfunction and disease. Mutations in several other proteins involved in mtFAS are known to be disease-causing. ACSF3, which catalyzes the first step in mtFAS, is associated with CMAMMA, and OXSM is associated with glycolysation disorders.
The NBIA disorders PKAN and CoPAN share a mitochondrial component with MEPAN, and PDH-e2 deficiency hares a similar phenotype as well. Genes involved protein lipoylation such as LIPT, LIAS1, and LIAS2 that cause Leigh's Disease may also be related. For a list of researchers that are currently studying mtFAS and MEPAN Syndrome, please click here.
We are working to engage researchers studying mitochondrial disease, neurodegeneration with brain iron accumulation and other similar metabolic conditions. The goal is to create a collaborative effort that will help patients with MEPAN and similar disorders. If you have a research idea or proposal that may help advance that aim please contact us at