MITOCHONDRIAL DISEASE

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

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

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.