Research Update

Prof Jo Poulton

For further strides we need YOU!

Different views on what is important

Advances relevant to…

• Families with young children

– Genetic advances offer reproductive

options

• Older people with established disease

– A new drug to be trialled

Genetic advances offer

reproductive options

Predicting recurrence is DIFFICULT

Child’s severity reflects mtDNA

composition in embryos and oocytes

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

Reproductive options now available

Reproductive options now available

2006

Reproductive options now available:

Mitochondrial donation

25% m.8993T>G WT (0%)

…or was mutant low?

Advances relevant to…

• Families with young children

– Genetic advances offer reproductive

options

• Older people with established disease

– A new drug to be trialled

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

Cardiolipin is an important building block for

keeping the production line connected

ROS damage cardiolipin and hence the

mitochondrial production line for energy

Bendavia protectscardiolipin

BUT: it needs to be injected

Studies to start soon but entry criteria will be strict

Jo Poulton

http://www.obs-gyn.ox.ac.uk/research/jo-poulton

RARE MITOCHONDRIAL

DISORDERS

SERVICE FOR ADULTS AND

CHILDREN