GNB1 Encephalopathy

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Overview:

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.

About:

  • It is a kind of brain disease or neurological disorder which affects individuals in the foetus stage.
  •  A single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the "Gβ1 protein," causes this disease.
  • Symptoms: Delayed physical and mental development, intellectual disabilities, and frequent epileptic seizures are among the early of the disease.
  • Less than 100 cases of GNB1 Encephalopathy have been recorded worldwide. However, the actual number of affected children is probably higher since diagnosis for this genetic disorder is not widely available due to the requirement of sophisticated and expensive procedures.

 


Q1) What is the main function of neurons?

It functions as receiving sensory input from the external world, sending motor commands to our muscles, and  transforming and relaying the electrical signals at every step in between.

Source: Researchers from India, Israel, and the US trying to develop a drug to treat the rare disease 'GNB1 Encephalopathy'