Studying Mitochondrial DNA quality control in human oocytes
Research type
Research Study
Full title
Studying Mitochondrial DNA quality control in human oocytes and pre-implantation embryos.
IRAS ID
161145
Contact name
Joanna Poulton
Contact email
Sponsor organisation
Clinical Trials and Research Governance, University of Oxford
Research summary
Mitochondria are cell components, essential for life. However, one in 400 people has a maternally-inherited mutation in mitochondrial DNA (mtDNA), the ‘blue print’ for mitochondrial components. MtDNA mutations can cause a range of illnesses, some of which are very severe, and there are no curative treatments.
There are centres developing techniques for replacing disabled mitochondria with healthy ones using a radical technique called "nuclear transfer”, but this remains controversial. Alternative techniques are hampered by poor understanding of the underlying mechanisms around the inheritance of mtDNA. MtDNA is inherited via the female line only and the severity of the disease depends on the proportion of abnormal mtDNAs in particular cells of the body. However, this proportion varies from one generation to the next and cannot be predicted. The variability in the number of abnormal mtDNAs inherited is caused by an event known as the ‘mitochondrial bottleneck’ which takes place in the female germline.
We aim to study the biological processes that occur at this point (the mitochondrial bottleneck) as the effectiveness of medical interventions to reduce the load of mutant mtDNA will depend critically upon the timing and impact of it. To do our investigations we plan to use eggs and very early-stage embryos donated from patients having In Vitro Fertilisation (IVF) at the Oxford Fertility Unit. They are eggs/embryos which are not suitable for clinical procedures and would otherwise be discarded.REC name
South Central - Oxford B Research Ethics Committee
REC reference
14/SC/1254
Date of REC Opinion
15 Sep 2014
REC opinion
Favourable Opinion