About GNB1 Encephalopathy(UPSC)

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Context

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 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 mutation is a change in the DNA sequence of an organism.

GPCR and GNB1 Mutation

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.
In GNB1 Encephalopathy, a single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the "Gβ1 protein," causes this disease.

Symptoms

Mutations in GNB1 gene cause the neurological disorder (GNB1 Encephalopathy) characterised by general develop- mental delay, epileptiform activity in the electroencephalogram (EEG) and seizures of several types, muscle hypotonia or hypertonia, and additional variable symptoms, are seen in the patients.
Delayed physical and mental development, intellectual disabilities, frequent epileptic seizures, are among the early symptoms of the disease.

Treatment

Researchers don't know the mechanisms that underlie the disease. Hence, it is not known how to treat this disease. Therefore, it is important to do research on GNB1 encephalopathy.
Researchers are in the process of developing preclinical animal models of this disease.