What is RAS in neurofibromatosis?
Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein called neurofibromin and is one of several genes that (when mutant) affect RAS–MAPK signalling, causing related diseases collectively known as RASopathies.
Where is Neurofibromin located?
Neurofibromin, a GTPase-activating protein, primarily regulates the protein Ras. NF1 is located on the long arm of chromosome 17, position q11. 2 NF1 spans over 350-kb of genomic DNA and contains 62 exons.
What does Merlin protein do?
Merlin helps regulate several key signaling pathways that are important for controlling cell shape, cell growth, and the attachment of cells to one another (cell adhesion). This protein functions as a tumor suppressor, preventing cells from growing and dividing too fast or in an uncontrolled way.
Is NF1 A insertion?
We report an unusual NF1 mutation, that of a de novo Alu repetitive element insertion into an intron, which results in deletion of the downstream exon during splicing and consequently shifts the reading frame.
What does the neurofibromin gene do?
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.
What is NF1 mutation?
Understanding the NF1 Mutation The NF1 gene mutation leads to the production of a nonfunctional or absent neurofibromin protein that is unable to regulate cell growth and division, resulting in the growth of neurofibromas (skin tumors) along nerves throughout the body.
When was Merlin Gene born?
11 Oct 1933
Born in Commerce, Hunt, Texas, USA on 11 Oct 1933 to Chester Merlin SPARKS and FAYE LORENE “Lorene” ROUNDTREE. Merlin Gene Sparks married Dorothy Ann Durham and had 1 child.
What is the role of neurofibromin in melanoma?
The NF1 protein product neurofibromin stimulates the intrinsic GTPase activity of active GTP-bound Ras, thereby inactivating it. Consistent with a tumor suppressor function, we have found that the introduction of NF1 in melanoma cell lines that are deficient in neurofibromin inhibited their growth and induced their differentiation.
What is the current research on Neurofibromatosis (NF1)?
Current basic and clinical research is aimed at understanding how the genetic mutations that cause NF1 tumors also cause neurons and neural networks to form abnormally during fetal development, which later result in the learning disabilities and cognitive deficits of children with the disorder.
What are neurofibromas?
Two or more soft, pea-sized bumps involving the skin (cutaneous neurofibromas), or one larger neurofibroma that involves multiple nerves ( plexiform neurofibroma ). Neurofibromas are tumors that originate from nerve cells. Plexiform neurofibromas are nerve-associated tumors involving nerves outside of the brain and spinal cord.
How does neurofibromatosis affect the body?
These mutations keep the genes—identified as NF1, NF2, SMARCB1, and LZTR1 —from making normal proteins that control the ability of the cells to function properly. Without the normal function of these proteins, cell growth increases, leading to the formation of tumors. Neurofibromatosis occurs in both sexes and in all races and ethnic groups.