GNB1 Encephalopathy
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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.
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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.
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