How does NF1 act as a Tumour suppressor?

Neurofibromin acts as a tumor suppressor protein. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. This protein appears to prevent cell overgrowth by turning off another protein (called ras) that stimulates cell growth and division.

Is NF1 a tumor suppressor gene?

NF1 is caused by mutations which inactivate the NF1 gene on chromosome 17q, while the NF2 gene is on chromsome 22. Both genes are tumour suppressor genes. The product of the NF1 gene, called neurofibromin, is a large protein of 2818 amino acids.

What does NF1 gene do?

NF1 . The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled.

What gene is mutated in NF1?

NF type 1 is caused by a mutation in a gene on chromosome 17. This gene provides the instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells).

How do Tumour suppressor genes work?

Tumor suppressor genes are normal genes that slow down cell division, repair DNA mistakes, or tell cells when to die (a process known as apoptosis or programmed cell death). When tumor suppressor genes don’t work properly, cells can grow out of control, which can lead to cancer.

Is NF1 dominant or recessive?

Neurofibromatosis type 1 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent .

How do tumor suppressors function?

A tumor suppressor gene directs the production of a protein that is part of the system that regulates cell division. The tumor suppressor protein plays a role in keeping cell division in check. When mutated, a tumor suppressor gene is unable to do its job, and as a result uncontrolled cell growth may occur.

Why are tumor suppressor genes recessive?

Properties of tumor suppressor genes include: Both copies of a specific tumor suppressor gene pair need to be mutated to cause a change in cell growth and tumor formation to happen. For this reason, tumor suppressor genes are said to be recessive at the cellular level.

How does NF1 affect a person’s life?

If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder. Learning disabilities are a common problem.

Is NF1 infectious?

Q: Are neurofibromas contagious? A: Not at all. NF1 is a genetic disorder, meaning that if your child has it, it was already in her genes when she was born. Neurofibromas don’t “spread” from person to person.

How are tumor suppressor genes activated?

In contrast to oncogenes, which are activated by mutation of only one of the two gene copies, tumor suppressor genes are inactivated by point mutations or deletion in both alleles of the gene in a “two-hit” fashion.

Why are tumor suppressors usually recessive?

Both copies of a specific tumor suppressor gene pair need to be mutated to cause a change in cell growth and tumor formation to happen. For this reason, tumor suppressor genes are said to be recessive at the cellular level. Mutations in tumor suppressor genes are often acquired.

What is the role of the NF1 gene in cancer?

In cancer, the tumor suppression function of the gene is impaired, leading to conditions favorable for uncontrolled cell growth. NF1 mutations have been observed in multiple cancer types, including myelodysplastic syndromes.

What does NF1 stand for?

Neurofibromin 1 ( NF1) is a gene that codes for neurofibromin, a tumor suppressor protein ( Genetics Home Reference 2014 ). NF1 suppresses the function of the Ras protein, which promotes cell growth and differentiation ( Genetics Home Reference 2014 ; PMID: 25026295 ).

What is the prevalence of nfnf1 alterations in cancer?

NF1 is altered in 6.60% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, conventional glioblastoma multiforme, cutaneous melanoma, and colon adenocarcinoma having the greatest prevalence of alterations [ 3 ].

Is NF1 syndrome a germline condition?

NF1 mutations have been observed in multiple cancer types, including myelodysplastic syndromes. In addition, NF1 syndrome is a germline condition resulting in predisposition to several types of cancer, in addition to other effects ( PMID: 25026295 ).