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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...
GNB1 Encephalopathy
Statement 1: It is a kind of neurological disorder which affects individuals in the foetus stage.
This statement is correct. GNB1 Encephalopathy is a rare genetic disorder that affects the neurological development of individuals, typically starting in the prenatal stage. Encephalopathy refers to a broad term for any brain disorder or disease. In the case of GNB1 Encephalopathy, it specifically refers to a condition caused by mutations in the GNB1 gene, which is involved in the development and functioning of the nervous system.
Statement 2: A single nucleotide mutation is the reason for this disease.
This statement is also correct. GNB1 Encephalopathy is caused by mutations in the GNB1 gene. Specifically, it is typically caused by single nucleotide variants (SNVs) or single nucleotide mutations. SNVs are changes in a single nucleotide base (A, T, C, or G) within the DNA sequence. These mutations can disrupt the normal functioning of the GNB1 gene, leading to the development of GNB1 Encephalopathy.
Explanation:
GNB1 Encephalopathy is a rare genetic disorder that affects the neurological development of individuals. It is typically diagnosed in the prenatal or early postnatal period. The disorder is caused by mutations in the GNB1 gene, which is responsible for encoding a subunit of a protein called G protein beta subunit 1. This protein is involved in various cellular processes, including signal transduction in the nervous system.
The mutations in the GNB1 gene can lead to a range of neurological symptoms and developmental delays. These symptoms can vary widely among affected individuals but may include intellectual disability, seizures, movement disorders, muscle weakness, and delayed development of motor skills.
The specific type of mutation in the GNB1 gene can vary, but single nucleotide variants (SNVs) or single nucleotide mutations are commonly observed. SNVs involve changes in a single nucleotide base within the DNA sequence. These mutations can disrupt the normal functioning of the GNB1 gene, leading to the development of GNB1 Encephalopathy.
In summary, GNB1 Encephalopathy is a neurological disorder that affects individuals in the prenatal stage. It is caused by mutations, particularly single nucleotide variants, in the GNB1 gene. These mutations disrupt the normal functioning of the gene, leading to the characteristic symptoms and developmental delays associated with the disorder.
Statement 1: It is a kind of neurological disorder which affects individuals in the foetus stage.
This statement is correct. GNB1 Encephalopathy is a rare genetic disorder that affects the neurological development of individuals, typically starting in the prenatal stage. Encephalopathy refers to a broad term for any brain disorder or disease. In the case of GNB1 Encephalopathy, it specifically refers to a condition caused by mutations in the GNB1 gene, which is involved in the development and functioning of the nervous system.
Statement 2: A single nucleotide mutation is the reason for this disease.
This statement is also correct. GNB1 Encephalopathy is caused by mutations in the GNB1 gene. Specifically, it is typically caused by single nucleotide variants (SNVs) or single nucleotide mutations. SNVs are changes in a single nucleotide base (A, T, C, or G) within the DNA sequence. These mutations can disrupt the normal functioning of the GNB1 gene, leading to the development of GNB1 Encephalopathy.
Explanation:
GNB1 Encephalopathy is a rare genetic disorder that affects the neurological development of individuals. It is typically diagnosed in the prenatal or early postnatal period. The disorder is caused by mutations in the GNB1 gene, which is responsible for encoding a subunit of a protein called G protein beta subunit 1. This protein is involved in various cellular processes, including signal transduction in the nervous system.
The mutations in the GNB1 gene can lead to a range of neurological symptoms and developmental delays. These symptoms can vary widely among affected individuals but may include intellectual disability, seizures, movement disorders, muscle weakness, and delayed development of motor skills.
The specific type of mutation in the GNB1 gene can vary, but single nucleotide variants (SNVs) or single nucleotide mutations are commonly observed. SNVs involve changes in a single nucleotide base within the DNA sequence. These mutations can disrupt the normal functioning of the GNB1 gene, leading to the development of GNB1 Encephalopathy.
In summary, GNB1 Encephalopathy is a neurological disorder that affects individuals in the prenatal stage. It is caused by mutations, particularly single nucleotide variants, in the GNB1 gene. These mutations disrupt the normal functioning of the gene, leading to the characteristic symptoms and developmental delays associated with the disorder.
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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 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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