A rare genetic brain disease called “GNB1 Encephalopathy” is being studied by Researchers at the Indian Institute of Technology (IIT), Madras, Tel Aviv University and Columbia University.
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 single nucleotide mutation in the GNB1 gene that makes one of the G-proteins, the “Gβ1 protein,” causes this disease. This mutation affects the patient since they are a foetus.
Symptoms
Delayed physical and mental development
Intellectual disabilities
Frequent epileptic seizures
Epilepsy (abnormal brain activity)
Treatment
Researchers don’t know the mechanisms that underlie the disease. Hence, it is not known how to treat this disease
Researchers are in the process of developing preclinical animal models of this disease.
‘G-Protein Coupled Receptor’ (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.
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
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