Overview
Mitochondrial diseases can arise due to mutations in mitochondrial DNA or nuclear DNA that encodes mitochondrial components. Mitochondrial DNA encodes for specific proteins that aid respiration.
Mitochondrial diseases can affect up to 1 in 5000 people in the UK. In general, they present with neurological features
Inheritance
Mitochondria and mitochondrial DNA are only inherited via the maternal line as no mitochondria from the sperm enter the egg during fertilisation. Therefore:
- No children of an affected male will inherit the disease
- All children of an affected female with inherit the disease
