Rare disease ‘GNB1 Encephalopathy

  • IASbaba
  • December 29, 2022
  • 0
Science and Technology
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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.

GNB1 Encephalopathy

  • It is a kind of brain disease or neurological disorder which affects individuals in the foetus stage.
  • With less than 100 documented cases worldwide
  • Children born with GNB1 mutation experience delayed physical and mental development, intellectual disabilities, epilepsy (abnormal brain activity), movement problems, muscle hypotonia or hypertonia.
  • A potassium channel called G-protein gated Inwardly Rectifying K+ (GIRK) channel (present in brain, heart and endocrine glands) function is affected significantly.
  • As I80T mutation is the most prevalent variant in GNB1 encephalopathy patients.

How it occurs:

  • A single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the “Gβ1 protein,” causes Encephalopathy.
  • 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.


  • As the developmental issues start at the fetal stage, gene therapy is the most plausible option to alleviate the effects of the mutation.
  • Whole genome sequencing, the elucidation of the full genetic analysis of the baby, can be very helpful in early diagnosis of the disease.
  • Epilepsy can be treated using specific drugs to increase the patient’s quality of life.
  • To treat epilepsy, specific targets have to be identified.
  • Most epilepsies are caused due to altered ion channel function.
  • Ion channels are proteins that underlie the electrical activity of neurons and heart cells.

Source: The hindu

Previous Year Questions

Q.1) In the context of hereditary diseases, consider the following statements: (2021)

  1. Passing on mitochondrial diseases from parent to child can be prevented by mitochondrial replacement therapy either before or after in vitro fertilization of egg.
  2. A child inherits mitochondrial diseases entirely from mother and not from father.

Which of the statements given above is/are correct?

  1. 1 only
  2. 2 only
  3. Both 1 and 2
  4. Neither 1 nor 2


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