Researchers at the Indian Institute of Technology (IIT), Madras, Tel Aviv University and Columbia University are studying a rare genetic brain disease called “GNB1 Encephalopathy” and trying to develop a drug to treat it effectively.


What it is?

  • GNB1 Encephalopathy is a kind of brain disease or neurological disorder which affects individuals in the foetus stage.
  • Symptoms — Delayed physical and mental development, intellectual disabilities, frequent epileptic seizures.
  • Cause — A single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the “Gβ1 protein,” causes this disease.
  • Prevalence — To date, less than a hundred cases have been documented worldwide. However, the actual number of affected children is probably much greater as diagnosis is not widely available since it requires a sophisticated and expensive procedure.


G-Protein Coupled Receptor’ (GPCR) signalling

  • 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 “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.