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Mito Disease Burden


Mitochondrial Disease Burden

Genetic mitochondrial disease is a rare disease with high morbidity and mortality


  • ~75,000 people affected in the US (>1 in 4,300)


  • Onset can be in childhood or as an adult (35% mortality before age 18)


  • 10% of adults hospitalized for mitochondrial disease die within 5 years

Mitochondrial disease primarily affects the high-energy systems in the human body


  • Nerves, heart, liver, muscles, kidney, endocrine and respiratory systems

Genetic Diagnosis

Genetic Diagnosis

DNA sequencing enables the rapid diagnosis of inherited mitochondrial disease


  • MSeqDR database: 1,628 genes associated with mitochondrial biology


  • 4,507 variants in these genes associated with mitochondrial disease

Significant Impact

Significant Impact

The estimated cost to care for patients with mitochondrial disease in the USA is > $10 billion per year.


There are no drugs approved by the FDA for the treatment of mitochondrial disease.

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