Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment

Join MitoAction and Dr. Richard Frye to discuss the distinction between primary and secondary mitochondrial diagnosis. Some talking points will include:

• Primary mitochondrial disease (PMD) is ideally diagnosed by a known or indisputably pathogenic mitochondrial or nuclear DNA mutation.
• Secondary mitochondrial dysfunction (SMD) can be caused by genes encoding either function nor production of the oxphos proteins and accompanies many heriditary non-mitochondrial diseases.
• Secondary mitochondrial dysfunction (SMD) can also be caused by enviornmental factors.
• In the absence of the ability to diagnose a primary mitochondrial disease (PMD), mitochondrial dysfunction can be effectively treated with standard treatments for PMD.
• When the etiology of mitochondrial dysfunction is unknown, re-evaluation for genetic and other causes should be revisited on a regular basis.