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