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Mahesh

29/12/22 06:53 AM IST

GNB1 Encephalopathy

In News
  • 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.
  • The joint international research of GNB1 Encephalopathy is supported by the Indo-Israel Binational grant offered by Israel Science Foundation (ISF) and India’s University Grants Commission (UGC).
GNB1 Encephalopathy
  • It is a rare genetic brain disease caused due to mutations in the GNB1 gene.
  • This genetic disorder affects individuals in the foetus stage, with the earliest symptoms being delayed physical and mental development, intellectual disabilities, epilepsy (abnormal brain activity), movement problems and frequent epileptic seizures.
  • Individuals having this genetic disorder will experience seizures due to the abnormal activity of ion channels or neurotransmitter receptors.
  • It is caused by the mutation of a single nucleotide in the GNB1 gene that makes one of the G-proteins called Gβ1 protein.
  • Less than 100 documented cases have been recorded worldwide.
About 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.
  • The 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.
About the Research
  • Scientists are in the process of developing preclinical animal models of this disease.
  • They are expecting to develop personalized disease models that can be useful for research and drug screening in three years.
  • Currently, one of the most effective options to alleviate the effects of the mutation is gene therapy.
  • Researchers have found that GNB1 encephalopathy adversely affects the functioning of the potassium channel called the G-protein gated Inwardly Rectifying K+ (GIRK) channel, which is found in brain, heart, and endocrine glands.
  • Specific drugs can be used to rectify the channel activity.
  • The research is currently focusing on I80T mutation, which is the most prevalent variant in GNB1 encephalopathy patients.
  • Scientists have generated induced pluripotent stem cells (iPSCs) from fibroblasts obtained from patients with I80T mutation.

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