Life Sciences & Biotechnology

Title :

Investigating the pathomechanisms underlying the RNA exosome component EXOSC1 associated neurodegenerative disorder

Area of research :

Life Sciences & Biotechnology

Focus area :

Gentics, Genetic Engineering

Principal Investigator :

Dr. Priyanka Upadhyai, Associate Professor, Kasturba Medical College- Manipal Academy of Higher education, Karnataka

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Timeline End Year :


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Executive Summary :

The RNA exosome is a crucial machinery in RNA metabolism, facilitating the surveillance, processing, and degradation of various cellular RNAs. It plays a crucial role in transcription, DNA repair, antiviral defense, and lineage-specific differentiation. Pathogenic variants in RNA exosome components cause neurodegenerative diseases, such as Pontocerebellar Hypoplasia Type 1 (PCH1), cerebellar ataxia, brain abnormalities, and cardiac conduction defects. Recent research has identified a biallelic missense pathogenic variant in EXOSC1 associated with a novel PCH phenotype, PCH1F. Studies in yeast, Drosophila, and zebrafish have revealed that RNA exosome dysfunction causes impaired brain and neuronal development. Further investigation into the role of the RNA exosome in human neurodevelopment using human neuronal cells is needed.


Dr. Dinesh Upadhya, Kasturba Medical College- Manipal Academy of Higher education, Dr. Anju Shukla, Kasturba Medical College- Manipal Academy of Higher education,(Karnataka)

Total Budget (INR):


Organizations involved