Genetic diseases: Neurofibromatosis

Definition

In our post today on genetic diseases we highlight Neurofibromatosis. It is a genetic disorder A nervous system disorder that affects neural cell tissue. The mutated genes stop doing their job of preventing uncontrolled cell growth. This predisposes people to develop benign tumors around the nerves and on the skin.

Causes

Neurofibromatosis is caused by genetic defects (mutations) passed on by parents or occurring spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis and cause tumors to form in nerve tissue. They can develop anywhere in the nervous system, including the brain, spinal cord, or nerves.

Genetics of the disease

There are currently three known types of neurofibromatosis depending on the genes affected: the NF1 gene (on chromosome 17) causes a loss of the protein neurofibromin, allowing cells to grow uncontrollably; the NF2 gene (on chromosome 22) causes a loss of the protein merlin, allowing cells to grow uncontrollably; and finally, mutations in the SMARCB1 and LZTR1 genes, which suppress tumors, give rise to schwannomatosis. Both neurofibromatosis type 1 and type 2 are autosomal dominant disorders, meaning that children with one affected parent have a 50% chance of inheriting it.

Symptoms

Neurofibromatosis affects both sexes and has been defined as types 1, 2, and the least common, schwannomatosis, which causes the development of tumors in the cranial, spinal, and peripheral nerves, resulting in intense, chronic pain. Type 1 disease usually presents with signs in childhood and with symptoms that are usually mild, such as the appearance of spots or involvement of the peripheral nervous system (optic gliomas). Type 2 disease generally presents during late adolescence. It is rarer and usually includes symptoms such as the development of benign tumors in the ears that can cause hearing loss, headaches, and loss of balance.

Diagnosis

To diagnose a patient with neurofibromatosis, tests will be performed such as an eye exam by an ophthalmologist, an MRI of the brain or the affected area, and finally, confirmation will be through a genetic evaluation. www.genotica.com We have tests that study this disease and its related mutations, such as NGS-SEQ+CNVs – NEUROFIBROMATOSIS from Lorgen.

Treatment

There is currently no cure for this disease, only palliative treatments or, if necessary, surgery to remove tumors affecting other organs.