Knowledge...That Leads To a Cure
MEPAN Foundation was created to drive awareness and support for MEPAN Syndrome, a rare mitochondrial disorder caused by mutations to the MECR gene. MEPAN presents with dystonia, ataxia, optic atrophy and other debilitating symptoms. Carson and Chase Miller are two of only 14 known MEPAN patients in the world, and there are no proven treatments currently available for the condition.
Funding a MEPAN Cure
Carson and Chase were diagnosed with MEPAN via whole genome sequencing at Stanford in February 2018. As we build more awareness for MEPAN, our goal is to raise funds to jumpstart research to help MEPAN patients around the world. Researchers in the United States, Israel and Finland already have projects in mind, including zebrafish and mouse models that mirrors genetic mutations found in MEPAN patients, and studies to find disease biomarkers that could help measure the effects of different compounds that could treat the disorder. Your donation can help us to find a cure for MEPAN!
What is MEPAN?
MEPAN is short for mitochondrial enoyl CoA reductase protein-associated neurodegeneration, and it was first described by Heimer et al in a paper published in December 2016 in the American Journal of Human Genetics. MECR encodes a protein called mitochondrial trans-2-enoyl-CoA reductase, which catalyzes the last step in the elongation of fatty acids (mtFAS), acylated ACP and lipoic acid used in the TCA cycle and electron transport chain. mtFAS is highly conserved pathway that researchers are beginning to suspect plays a far greater role in a variety of other metabolic processes, including mitochondrial biogenesis.
Mitochondrial Fatty Synthesis and MECR
mtFAS: The "Conductor" of Important Cellular Processes
We want to educate clinicians and researchers and other rare disease families about MEPAN to create a better understanding of the important role that the mtFAS pathway plays in mitochondrial health and other biochemical processes. Developing treatments that help MEPAN patients could provide answers for hundreds of patients - many of them children - suffering from other types of rare diseases. Patients with PKAN, MPAN, COASY and CMAMMA could all benefit from more coordinated efforts that combine expertise from researchers studying mitochondrial disease, acidurias, neurodegeneration with brain iron accumulation and lipoic acid defects.
MEPAN Foundation Blog
MEPAN Patient News
October 26, 2016
Sydney Breslow is one of five MEPAN patients in the U.S. She and her family raise money for the United Mitochondrial Disease Foundation, helping fund MEPAN research.
October 26, 2016
Sydney Breslow is one of five MEPAN patients in the United States. She and her family have raised money for the United Mitochondrial Disease Foundation to help fund MEPAN research.
October 11, 2018
CBS This Morning segment that discusses the Undiagnosed Diseases Network and the diagnostic journey we took with Carson and Chase.