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With reference to the GNB1 Encephalopathy, consider the following statements:
- It is a kind of neurological disorder which affects individuals in the foetus stage.
- A single nucleotide mutation is the reason for this disease.
Which of the statements given above is/are correct?
- a)1 Only
- b)2 Only
- c)Both 1 and 2
- d)Neither 1 nor 2
Correct answer is option 'C'. Can you explain this answer?
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Most Upvoted Answer
With reference to the GNB1 Encephalopathy, consider the following stat...
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.
- 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.
Hence both statements are correct.
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With reference to the GNB1 Encephalopathy, consider the following stat...
GNB1 Encephalopathy
Introduction:
GNB1 Encephalopathy is a rare, genetic neurological disorder that affects individuals during the foetal stage. It is caused by a single nucleotide mutation in the GNB1 gene.
Statement 1: It is a kind of neurological disorder which affects individuals in the foetus stage.
This statement is correct. GNB1 encephalopathy is a neurological disorder that affects individuals during the foetal stage. It is a rare condition that is characterized by a range of symptoms including developmental delay, intellectual disability, seizures, hypotonia (low muscle tone), and abnormal movements.
Statement 2: A single nucleotide mutation is the reason for this disease.
This statement is also correct. GNB1 encephalopathy is caused by a single nucleotide mutation in the GNB1 gene. This gene provides instructions for making a protein called guanine nucleotide-binding protein subunit beta-1. This protein plays a critical role in transmitting signals within cells. The mutation in the GNB1 gene disrupts the normal functioning of this protein, leading to the development of the neurological symptoms associated with GNB1 encephalopathy.
Conclusion:
Both statements 1 and 2 are correct. GNB1 encephalopathy is a neurological disorder that affects individuals during the foetal stage and is caused by a single nucleotide mutation in the GNB1 gene. This rare condition can have a significant impact on the affected individual's development and overall quality of life. Further research is needed to better understand the underlying mechanisms of GNB1 encephalopathy and to develop effective treatments for this condition.
Introduction:
GNB1 Encephalopathy is a rare, genetic neurological disorder that affects individuals during the foetal stage. It is caused by a single nucleotide mutation in the GNB1 gene.
Statement 1: It is a kind of neurological disorder which affects individuals in the foetus stage.
This statement is correct. GNB1 encephalopathy is a neurological disorder that affects individuals during the foetal stage. It is a rare condition that is characterized by a range of symptoms including developmental delay, intellectual disability, seizures, hypotonia (low muscle tone), and abnormal movements.
Statement 2: A single nucleotide mutation is the reason for this disease.
This statement is also correct. GNB1 encephalopathy is caused by a single nucleotide mutation in the GNB1 gene. This gene provides instructions for making a protein called guanine nucleotide-binding protein subunit beta-1. This protein plays a critical role in transmitting signals within cells. The mutation in the GNB1 gene disrupts the normal functioning of this protein, leading to the development of the neurological symptoms associated with GNB1 encephalopathy.
Conclusion:
Both statements 1 and 2 are correct. GNB1 encephalopathy is a neurological disorder that affects individuals during the foetal stage and is caused by a single nucleotide mutation in the GNB1 gene. This rare condition can have a significant impact on the affected individual's development and overall quality of life. Further research is needed to better understand the underlying mechanisms of GNB1 encephalopathy and to develop effective treatments for this condition.
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With reference to the GNB1 Encephalopathy, consider the following statements: It is a kind of neurological disorder which affects individuals in the foetus stage. A single nucleotide mutation is the reason for this disease.Which of the statements given above is/are correct?a)1 Onlyb)2 Onlyc)Both 1 and 2d)Neither 1 nor 2Correct answer is option 'C'. Can you explain this answer?
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