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!

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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

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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

Sharing Our Story With The UDN Team

June 12, 2019

Sharing Our Story With the FDA

April 19, 2019

Rare Disease: Feelings Versus Facts

November 29, 2018

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MEPAN Patient News

October 19, 2018

Vice article that discusses the Undiagnosed Diseases Network and the diagnostic journey we took with Carson and Chase.

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Doctors consider and discuss magnetic resonance image (MRI) of the brain. Back view, selective focus

February 22, 2017

The diagnostic odyssey of Mike Cohn, a MEPAN patient who spent over 20 years in search of a diagnosis.


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.

Sydney Breslow

MEPAN Resources

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Female Scientist Using Microscope

FOR CLINICIANS

FOR PATIENTS

FOR RESEARCHERS

Doctors consider and discuss magnetic resonance image (MRI) of the brain. Back view, selective focus

February 22, 2017

The diagnostic odyssey of Mike Cohn, a MEPAN patient who spent over 20 years in search of a diagnosis.


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.

Sydney Breslow

October 11, 2018

CBS This Morning segment that discusses the Undiagnosed Diseases Network and the diagnostic journey we took with Carson and Chase.

If you have questions about MEPAN or would like to help Carson and Chase and other MEPAN patients, please contact us.

danny@mepan.org

MEPAN Foundation is a 501(c)(3) non-profit organization. Your gift is tax-deductible

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