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Reproductive consequences
Mutation Load
Mother Son Daughter 38% 78% 0%
Mild clinical symptoms
Died aged 7 years
PGD can be used to detect mtDNA mutations
Mutation level
Risk of developing mitochondrial disease
No mutation
0%
No risk
Low-level mutation
<30%
Lifetime risk extremely low
Intermediate-level mutation
31-70%
Risk rises with increasing mutation level
High-level mutation
>70%
High risk of severe disease
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PRECONGRESS COURSE 11 I BARCELONA, SPAIN – 1 JULY 2018 97