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

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Timeline End Year :


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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):


Organizations involved