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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

Implementing Organization

Indian Institute of Science
Principal Investigator
Prof. Patrick Raymond Dsilva
Professor
|
Indian Institute of Science

About

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.

Source

Source
Anusandhan National Research Foundation/Science and Engineering Research Board (SERB), DST 2023-24
Funding Organization
Funding Organization
Department of Science and Technology (DST)
Science and Engineering Research Board (SERB), New Delhi
Anusandhan National Research Foundation (ANRF)
Quick Information
Area of Research
Life Sciences & Biotechnology
Focus Area
Biochemistry, Molecular Biology
Start Year
2023
End Year
2025
Sanction Amount
₹ 68.88 L
Status
Completed
Contact
patrick@iisc.ac.in
Output
No. of Research Paper
00
Technologies (If Any)
00
No. of PhD Produced
00
No. of Patents
Filed : 00
Grant : 00
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