MEPAN Foundation works to create awareness for MEPAN Syndrome and fund research to discover treatments that can improve the quality of life for MEPAN patients and others with similar genetic conditions. MEPAN is a rare mitochondrial disease caused by mutations to the MECR gene, and it presents with dystonia, ataxia, and optic atrophy. There are only 19 known MEPAN patients in the world, and there are no proven treatments currently available for the condition.
Funding MEPAN Research
After a five-year diagnostic odyssey, Carson and Chase were diagnosed with MEPAN via whole genome sequencing at Stanford in February 2018. We are now working to raise money to fund research that can discover treatments that can help MEPAN patients. A project will soon be underway at UCSF that will use yeast models to mirror genetic mutations found in patients and test possible drug therapies. Others being considered include disease studies in fruit flies, worms and zebrafish. These will help researchers better understand MEPAN and identify existing drugs or novel compounds that may treat the disorder and lessen symptoms. Please consider making a donation to help improve the quality of life for Carson and Chase!
What is MEPAN?
MEPAN is short for mitochondrial enoyl CoA reductase protein-associated neurodegeneration, and it was first described in a paper published in December 2016 in the American Journal of Human Genetics. The MECR gene involved in this process encodes a protein called mitochondrial trans-2-enoyl-CoA reductase, which helps our mitochondria make fatty acids used in variety of the body's metabolic processes.
MEPAN affects the the basal ganglia, a part of the brain that helps to coordinate muscles and movement. What this means for Carson and Chase is that they cannot walk or produce speech. As a result they need wheelchairs for mobility and assistive communication devices to help them at home and in school. MEPAN is a progressive condition and the boys' symptoms may worsen over time.
Despite these challenges their cognition and receptive language is intact, and Carson and Chase are happy little boys who are very engaged in their environment and the people around them.
mtFAS: The "Conductor" of Important Cellular Processes
Clinicians, researchers and other rare disease families should know about MEPAN, as mtFAS, the pathway involved, plays an important role in cellular homeostasis and other important metabolic processes in the body. Developing treatments that help MEPAN patients could provide answers for hundreds of patients - many of them children - suffering from similar types of rare diseases. Patients with PKAN, CoPAN and sub-types of Leigh's Disease could all benefit from coordinated efforts that combine expertise from researchers studying mitochondrial disease, neurodegeneration with brain iron accumulation and lipoic acid defects.