Activities per year
Project Details
Description
Mitochondrial diseases are a heterogeneous group of disorders, resulting from deficient oxidative phosphorylation. The respiratory chain consists of five different complexes, encoded by mitochondrial and/or nuclear genes. Complex V or ATP synthase has several subunits, two encoded by mitochondrial genes, and at least 14 encoded by nuclear genes. Mutations have only been found in the mitochondrial ATPase6. Recently our research group published the molecular and clinical analysis of a patient with complex V deficiency and a mutation in an assembly gene ATP12. This gene has been identified and studied in yeast. In this project the work will continue in order to characterise more patients with complex V deficiency and search for mutations in the different genes in involved in complex V functionality. We also intend to study the mutant complex V in yeast, to study the mRNA stability, to evaluate the functional domains of ATP12 and to study the expression in COS cells. This project aims to contribute to the knowledge of the functionality of assembly genes and the resulting deficiency and clinical expression of mutants.
Acronym | OZR1145 |
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Status | Finished |
Effective start/end date | 1/01/05 → 31/12/05 |
Keywords
- medicine
Flemish discipline codes in use since 2023
- Basic sciences
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Belgian Society for Human Genetics, 11th meeting: Dynamic DNA
Sara Seneca (Participant)
4 Mar 2011Activity: Participating in or organising an event › Participation in workshop, seminar
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Belgian Society for Human Genetics, 11th meeting: Dynamic DNA
Kim Vancampenhout (Participant)
4 Mar 2011Activity: Participating in or organising an event › Participation in workshop, seminar
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Belgian Society for Human Genetics, 11th meeting: Dynamic DNA
Willy Lissens (Participant)
4 Mar 2011Activity: Participating in or organising an event › Participation in workshop, seminar