‘GNB1 Encephalopathy’ Disease

Researchers in India, the US and Israel and currently trying to develop a drug to treat a rare genetic disease called GNB1 Encephalopathy.

What is GNB1 Encephalopathy?

  • GNB1 Encephalopathy is a rare genetic brain disease caused due to mutations in the GNB1 gene
  • This genetic disorder affects individuals in the foetus stage, with the earliest symptoms being delayed physical and mental development, intellectual disabilities, epilepsy (abnormal brain activity), movement problems and frequent epileptic seizures.
  • Individuals having this genetic disorder will experience seizures due to the abnormal activity of ion channels or neurotransmitter receptors.
  • It is caused by the mutation of a single nucleotide in the GNB1 gene that makes one of the G-proteins called Gβ1 protein.
  • 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.

About the research

Researchers at the Indian Institute of Technology (IIT), Madras, Tel Aviv University and Columbia University are currently studying GNB1 encephalopathy. They are looking to develop an effective drug against this rare genetic disorder. Currently, the mechanism of this genetic disorder is unknown.

Scientists are in the process of developing preclinical animal models of this disease. They are expecting to develop personalized disease models that can be useful for research and drug screening in three years.

Currently, one of the most effective options to alleviate the effects of the mutation is gene therapy. However, this is a complicated procedure that is time-consuming and resource intensive.

However, epilepsy can be treated using specific drugs to increase the patient’s quality of life. It can be treated by identifying specific targets. The majority of epilepsies are caused because of altered ion channel function. Ion channels are proteins that trigger the electrical activity of neurons and heart cells.

There is also the possibility that a combination of existing drugs can help in the customized treatment of the GNB1 encephalopathy.

Researchers have found that GNB1 encephalopathy adversely affects the functioning of the potassium channel called the G-protein gated Inwardly Rectifying K+ (GIRK) channel, which is found in brain, heart, and endocrine glands. Specific drugs can be used to rectify the channel activity.

The research is currently focusing on I80T mutation, which is the most prevalent variant in GNB1 encephalopathy patients. Scientists have generated induced pluripotent stem cells (iPSCs) from fibroblasts obtained from patients with I80T mutation.

The joint international research of GNB1 Encephalopathy is supported by the Indo-Israel Binational grant offered by Israel Science Foundation (ISF) and India’s University Grants Commission (UGC).

This study is expected to pave the way for the creation of a concrete therapeutic approach to treat GNB1 encephalopathy.




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