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[Tunis] Clinical and Biochemical Investigation of mitochondrial respiratory chain deficiency in Neurological diseases
Tunisia (ASSOCIA-MED) - University of Tunis El-Manar/Faculty of Medecine of Tunis, Tunis
Department of Paediatric neurology (UR12SP24), National institute of Neurology, Street of the Faculty of medicine of Tunis 1007 Tunis, Tunisia
Pr. Ilhem Turki
Pr. Ag. Ichraf Kraoua ; Dr Said Galai
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Mitochondrial diseases represent a group of metabolic diseases associated with defective cellular energy production. They are progressive in nature and their phenotypes typically involve multiple systems. The age of the onset can be prenatal or any age from the neonatal period through adulthood. But in the majority of cases, the diagnoses are made in paediatric neurology since it has a specific neurological clinical picture. Mitochondrial diseases are medically complex and chronic in nature. There is a general lack of knowledge about mitochondrial disease within the medical community, and there are too few clinicians considered experts in the diagnosis and management of mitochondrial disease which needs collaboration between neurology clinicians and metabolic biochemical scientists.
What is the aim of the project?
To determine the metabolic deficiency (like Pyruvate dehydrogenase) in the respiratory chain contributing in the disease in order to target the biochemical abnormality and to improve the lives of patients.
What techniques and methods are used?
- Clinical examination of the patient (Cranial nerves, muscle strength, tone and bulk, reflexes, coordination, sensory Function…) - Morphological and functional Magnetic Resonance Imaging (MRI) explorations - Specific biochemical analysis to obtain a detailed picture of the mitochondrial energy-generating system ¤ Redox (reduction–oxidation) point measurement ¤ lactate/pyruvate measurement - Study the correlation between the clinical and biochemical aspects of the disease The student will be involved in the analysis of data but there will be no software used
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 work closely with neurology clinician who had knowledge about mitochondrial disease to: ¤ Perform clinical examination on patients ¤ Analyse MRI scan In the second part, the student will be involved in lab work to: ¤ Measure the redox (reduction–oxidation) point of the patient. ¤ Study the correlation between clinical and biochemical investigations to make a specific diagnosis of the mitochondrial disease.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
No, there will be no theoretical teaching
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 - The student will prepare a scientific report
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Subjects passed: -Metabolic Biochemistry -Neurology
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Students in biomedical fields
- Mitochondrial Dynamics in the Regulation of Neurogenesis: From Development to the Adult Brain MireilleKhacho and Ruth S. Slack. DEVELOPMENTAL DYNAMICS 247:47–53; 2018 DOI: 10.1002/DVDY.24538
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