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Mitochondrial DNA Mutations and Human Disease

Project Description

Mutations of mitochondrial DNA (mtDNA) are a major cause of inherited diseases and contribute to neurodegeneration. Many are heteroplasmic, with a mixture of mutated and wild-type genomes. Differences in the proportion of heteroplasmy in different tissues determines the severity of disease, but the mechanisms responsible are not understood. We have previously shown that a drastic reduction in the mount of mtDNA occurs during germ cell development, leading to a genetic bottleneck effect. However, there also appears to be evidence of selection against deleterious mutations, ‘purifying’ the germ line. Similar mechanisms are also involved in determining how mutations accumulate in the brain during life. The aim of this project is to define the key mechanisms that explain how heteroplasmy changes during life using state-of-the art approaches including human stem cell models (iPSCs), single-cell genomics and transcriptomics. Ultimately, we aim to discover a way to prevent mtDNA mutations from accumulating in the brain, leading to new treatments for neurodegenerative disorders.

Funding Notes

Funding deadline is 3rd December 2019 for start in October 2020. When applying indicate on the application the funding options (GATES USA *deadline 9/10/19*, Gates Cambridge or other Cambridge Funders). Home/EU and International applications are all considered for funding.


Applicants can only be considered if they apply via the applicant portal which can be found at this link; please do not send in an enquiry and CV as this will not be considered an application.

Related Subjects

How good is research at University of Cambridge in Clinical Medicine?

FTE Category A staff submitted: 192.05

Research output data provided by the Research Excellence Framework (REF)

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