Objective
The ultimate goal of this project is to identify the molecular mechanism underlying autosomal Dominant Optic Atrophy (DOA), a devastating genetic disorder leading to degeneration of retinal ganglion cells and childhood blindness.
The gene defective in DOA maps to chromosome 3q28-29 and is called Optic Atrophy type 1 (OPA1). OPA1 encodes a mitochondrial GTPase which carries several mutations in humans with DOA. OPA1 is a mitochondrial protein involved in membrane fusion events that are required for mitochondrial integrity and maintenance. Loss of OPA1 function leads to mitochondrial fission, loss of mitochondrial DNA, and respiratory deficits.
A decline in mitochondrial function is well recognized in neurodegenerative diseases and aging, and leads in the case of DOA to degeneration of optical neurons that result in blindness. The biochemical function of OPA1 is unknown. OPA1 is a 961 amino acid residue membrane protein that belongs to a family of highly conserved GTPases related to Dynamin.
Intriguingly, the majority of missense mutations found in DOA patients reside in the highly conserved GTPase domain. In order to unravel the molecular mechanism behind DOA and to set the groundwork for the development of DOA therapies, a detailed understanding of OPA1 function is necessary. To achieve this, we plan a functional characterization of OPA1 by means of biochemical and structural studies.
We have already established proof of concept with obtaining a purification protocol, preliminary functional characterization and initial crystallization conditions of OPA1. With funding of this proposal we will carry out a comprehensive functional characterization of OPA1 and shed light on its role in DOA.
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.
- engineering and technology materials engineering crystals
- natural sciences biological sciences biochemistry biomolecules proteins
- natural sciences biological sciences genetics mutation
- natural sciences chemical sciences organic chemistry amines
- natural sciences biological sciences genetics chromosomes
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Keywords
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
Project’s keywords as indicated by the project coordinator. Not to be confused with the EuroSciVoc taxonomy (Fields of science)
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.
FP6-2004-MOBILITY-12
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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
SALZBURG
Austria
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.