Page 95 - PCC11

Pathogenic mtDNA mutations
- Cause a broad spectrum of multi-system diseases
- Affect tissues with high energy requirements
- Disease onset can occur in childhood or later in life - Severe disease is fatal before adulthood
- Prevalence of disease is estimated to be ~1 in 5000 - No curative treatments
Mitochondrial DNA (mtDNA) is maternally inherited
Mitochondrion
mtDNA
Human oocytes contain 200,000-500,000 copies of mtDNA
The sperm mtDNA does not persist after fertilisation
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PRECONGRESS COURSE 11 I BARCELONA, SPAIN – 1 JULY 2018 95