Life Sciences & Biotechnology
Title : | Understanding the genetic and molecular defects associated with Fe/S clusters biogenesis in humans: Implications in the development of mitochondrial myopathy and Infantile mitochondrial complex II/III deficiency (IMC23D) syndrome |
Area of research : | Life Sciences & Biotechnology |
Focus area : | Biochemistry, Molecular Biology |
Principal Investigator : | Prof. Patrick Raymond Dsilva, Professor,
Indian Institute of Science, Bengaluru |
Timeline Start Year : | 2023 |
Timeline End Year : | 2025 |
Contact info : | patrick@iisc.ac.in |
Details
Executive Summary : | The mammalian system relies on over 200 proteins, including the Fe/S cluster, for enzyme catalysis, electron transfer reactions, and metabolic pathways. The mitochondrial matrix's core machinery, including proteins like ISCU, ISD11, NFS1, Frataxin, and ACP, is essential for the biosynthesis of Fe/S clusters. Genetic defects can lead to severe mitochondrial-specific pathological conditions, such as ISCU-specific mitochondrial myopathy in humans. The study aims to understand the impact of these mutations on Fe/S cluster biosynthesis and iron homeostasis to better manage disease progression. The study will also explore the significance of the N-terminal region of ISCU and NFS1, a protein essential in Fe/S cluster biogenesis. The results will help improve disease management and treatment. |
Total Budget (INR): | 68,87,694 |
Organizations involved
