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Neurofibromatosis, its types and treatment prospects
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Daryoush Farhud   1, Hanieh Pourkalhor2 |
1- Genetic Clinic, school of Public Health,Tehran University of Medical Sciences, Department of Basic Sciences / Ethics, Academy of Medical Sciences Islamic Republic of Tehran, Iran
2- Genetic Clinic |
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Abstract: (1669 Views) |
Neurofibromatosis is a genetic disorder that causes tumors in nerve tissue. These tumors can grow in any part of the nervous system, including the brain, spinal cord and nerves.
The disease gene can be passed from a parent to a child through marked autosomal dominant inheritance or it can happen due to a spontaneous mutation of a gene. A parent with neurofibromatosis has a 50% chance of passing the genes to each of their children.
Neurofibromatosis is transmitted to the patient's child from either the patient's father or mother or through a spontaneous mutation in the patient.
The NF1 gene is caused by a mutation on chromosome 17. The gene that produces this disease is a protein called neurofibromin, which regulates cell growth. However, mutations in this gene cause NF1 and actually cause the loss of neurofibromin. Such conditions will lead to uncontrollable cell growth and tumor formation in the patient's body.
A similar mutation in a gene on chromosome 22 leads to NF2 (the gene that produces a protein, called merlin, that helps regulate the growth of cells in the body of a newborn). A mutation in this gene causes NF2 and the loss of the merlin protein and will lead to uncontrollable cell growth in a person's body. |
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| Keywords: Neurofibromatosis, autosomal dominant, neurofibromin protein, Merlin protein |
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Full-Text [PDF 2094 kb]
(1181 Downloads)
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Type of Study: Review |
Subject:
ژنتیک
Received: 2022/12/15 | Accepted: 2022/12/15 | Published: 2022/12/15
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