Objective
The final goal of the project is to better understand the mechanisms involved in mitochondrial disorders in children caused by the isolated or combined respiratory chain complex I deficiency. Mitochondrial disorders are the most frequent cause of inborn metabolic errors, affecting 1 individual in 5000. Symptoms begin at birth or in early childhood in most cases and generally present as multi-system disorders with a fatal outcome. The majority of the patients die within a few years of the first clinical manifestation. Currently, the genetic origin of the isolated or combined complex I deficiency can be resolved only in the minority of cases suggesting that mutations in yet-unknown factors are a very important cause of disease. At present, the biogenesis of the mitochondrial respiratory chain enzymes is far from understood. Recently, functional complementation and bioinformatic studies carried out in the laboratory of prof. Shoubridge (McGill University, the outgoing host) have led to the identification of two complex I assembly factors and a translational activator for a subunit of complex IV. In this study, in collaboration with prof. Shoubridge, new information on the pathogenesis of mitochondrial disorders is obtained by monitoring the cellular responses at the functional, translational and protein level in different conditions and species. Novel pathogenic mutations will be identified as the underlying genetic cause of the isolated or combined complex I defect in Finnish pediatric patients. In addition, systematic screening of respiratory chain deficient mutants and studies on mice and plants will lead to the discovery of novel factors that control the biogenesis of the mitochondrial respiratory chain. This study will be of significant impact on the medical field by providing new targets for genetic analysis of patients with respiratory chain deficiency. The results of this study can be utilized in the genetic counselling of the patients and their family.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences biological sciences genetics mutation
- natural sciences biological sciences biochemistry biomolecules proteins enzymes
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Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
FP7-PEOPLE-2010-IOF
See other projects for this call
Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
90014 Oulu
Finland
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.