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Research Update
Prof Jo Poulton
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For further strides we need YOU!
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Different views on what is important
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Advances relevant to…
• Families with young children
– Genetic advances offer reproductive
options
• Older people with established disease
– A new drug to be trialled
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Genetic advances offer
reproductive options
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Predicting recurrence is DIFFICULT
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Child’s severity reflects mtDNA
composition in embryos and oocytes
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And in human“control”
MtDNA flags show that eggs are already decided
Marchington et al AJHG 1997;60:408
Sampling earlystages is accurate
? CVSSampling laterstages varies
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Reproductive options now available
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Reproductive options now available
2006
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Reproductive options now available:
Mitochondrial donation
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25% m.8993T>G WT (0%)
…or was mutant low?
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Advances relevant to…
• Families with young children
– Genetic advances offer reproductive
options
• Older people with established disease
– A new drug to be trialled
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Elamipretide =BendaviaEffect on Mitochondrial Bioenergetics
Healthy Disease Elamipretide
X80,000
Eirin et al. Cardio. Research 2013
KID
NEY
Op
hth
alm
ic
Alam et al. ADA 2012 Rabinovitch et al. Circulation 2013
Car
dia
c
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Cardiolipin is an important building block for
keeping the production line connected
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ROS damage cardiolipin and hence the
mitochondrial production line for energy
Bendavia protectscardiolipin
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BUT: it needs to be injected
Studies to start soon but entry criteria will be strict
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Jo Poulton
http://www.obs-gyn.ox.ac.uk/research/jo-poulton
RARE MITOCHONDRIAL
DISORDERS
SERVICE FOR ADULTS AND
CHILDREN