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Unveiling Intracellular Organelle Interaction With Mitochondria In Leber Hereditary Optic Neuropathy: Functional Genomics Approach
Portugal (PorMSIC) - University of Coimbra, Coimbra
Biochemical Genetics Laboratory Polo III ? Subunidade I de Ensino, 2
Manuela Grazina and team
English (knowledge of Portuguese is appreciated)
Type of Research Project
- Basic science
What is the background of the project?
Lebers hereditary optic neuropathy (LHON, ORPHA104, MIM#535000) is a maternally inherited optic atrophy with acute bilateral loss of central vision, mainly associated to specific mtDNA mutations, affecting MRC-complex I subunits. The foremost goal of our project is to unveil the Golgi-mitochondrial crosstalk interaction concerning protein transport, since functional mitochondria need more than 1,000 nuclear encoded genes in addition to mtDNA-encoded components. The results will provide new insights on mitochondria networks and alternatives routes for proteins transport into mitochondria. Moreover, the data will be essential for understanding the most intriguing paradigm in LHON bigenomics: why maternal relatives of LHON patients do not develop clinical manifestations, despite of carrying a pathogenic mutation.
What is the aim of the project?
The aim of this project is To investigate if processing and transport of proteins through ER-Golgi- mitochondria, including clathrin-coated vesicles production at the TGN, is affected in LHON patients.
What techniques and methods are used?
Spectrophotometry, cell culture, western blotting, Polymerase Chain Reaction (PCR), real time Polymerase Chain Reaction (RT PCR), DNA sequencing, DNA electrophoresis.
What is the role of the student?
- The student will observe the practical experiments but will be highly involved in the analysis of the results
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
__The student will have the opportunity to practice different lab techniques ( Spectrophotometry, cell culture, western blotting, PCR, RT PCR, DNA sequencing, DNA electrophoresis). In the beginning, he will practice under supervision, but according to his progress he may perform them alone. It is expected that the students integrate in the research team with a positive and responsible attitude. We will try to make their stay in our lab as much useful as possible.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Yes. Preliminary readings, lectures, scientific papers and chapters. Seminar in biosafety.
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a presentation
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Previous experience with: preparation of solutions and pipeting, including micropipettes, pH concepts, and contact with laboratory materials.
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students
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