GNB1 Encephalopathy

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A rare genetic brain disease called “GNB1 Encephalopathy” is being studied by Researchers at the Indian Institute of Technology (IIT), Madras, Tel Aviv University and Columbia University.


GNB1 Encephalopathy
  • GNB1 Encephalopathy is a kind of brain disease or neurological disorder which affects individuals in the foetus stage. It is caused due to mutations in the GNB1 gene.
  • A single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the “Gβ1 protein,” causes this disease. This mutation affects the patient since they are a foetus.
  • Delayed physical and mental development
  • Intellectual disabilities
  • Frequent epileptic seizures
  • Epilepsy (abnormal brain activity)
  • Researchers don’t know the mechanisms that underlie the disease. Hence, it is not known how to treat this disease
  • Researchers are in the process of developing preclinical animal models of this disease.
‘G-Protein Coupled Receptor’ (GPCR)
  • Every cell in the human body has a wide variety of signalling molecules and pathways that help in communicating with other cells and within itself.
  • The major signalling mechanism used by cells is ‘G-Protein Coupled Receptor’ (GPCR) signalling.
  • GPCR is a receptor that receives a signal (e.g. a hormone, light, neurotransmitter) from the outside of the cell and transduces it to the inside of the cell.
  • GPCR is present in the cell membrane and has a G-protein (αβγ) attached to it from inside the cell.
  • G-proteins are the immediate downstream molecules that relay the signal received by the GPCR. These G-proteins are present in every cell, and any malfunction will cause disease

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