Dissecting the role of nucleo-mitochondrial interactions in mtDNA diseases. (360G-Wellcome-078535_Z_05_Z)

£368,767

The key goals are to identify and characterise nucleo-mitochondrial interactions that are important in mtDNA diseases. Mitochondrial proteins encoded by nuclear DNA which interact directly or indirectly with mitochondrial DNA (mtDNA) can cause defects in mtDNA maintenance in both humans and yeast. MtDNA depletion syndrome (MDS) is one such severe disorder,affecting liver and muscle. MDS demonstrates that nucleo-mitochondrial interactions are central to normal cell function. We will test the hypothesisthat these interactions are important in diseases associated with aging, such as diabetes, that are linked to variants both in mtDNA and in nuclear genes causing MDS.We will:1. determine whether mtDNA replication is abnormal in tissues and cells from patients with MDS and with diabetes linked to a mtDNA variant. 2. investigate mtDNA synthesis and organisation in cell lines from MDS patients. 3. identify candidate genes, implicated both by proteomics and by their known phenotype in yeast, that can correct defects in organisation of mtDNA in complementation experiments. These studies will improve diagnosis and genetic counselling for MDS, and will pave the way to rational therapies for mtDNA diseases.

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Grant Details

Amount Awarded 368767
Applicant Surname Poulton
Approval Committee Molecules, Genes and Cells Funding Committee
Award Date 2005-10-17T00:00:00+00:00
Financial Year 2005/06
Grant Programme: Title Project Grant
Internal ID 078535/Z/05/Z
Lead Applicant Prof Joanna Poulton
Partnership Value 368767
Planned Dates: End Date 2010-03-31T00:00:00+00:00
Planned Dates: Start Date 2006-02-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region South East