MITOCHONDRIAL DISEASE
Mitochondrial Disease Burden
Genetic mitochondrial disease is a rare disease with high morbidity and mortality
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~75,000 people affected in the US (>1 in 4,300)
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Onset can be in childhood or as an adult (35% mortality before age 18)
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10% of adults hospitalized for mitochondrial disease die within 5 years
Mitochondrial disease primarily affects the high-energy systems in the human body
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Nerves, heart, liver, muscles, kidney, endocrine and respiratory systems
Genetic Diagnosis
DNA sequencing enables the rapid diagnosis of inherited mitochondrial disease
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MSeqDR database: 1,628 genes associated with mitochondrial biology
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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.