By: Wania Najam, Rayyan Arshad, Maheen Muzammil, and Saqib Raheel
Neurofibromatosis may slow the nerve impulses from the brain because it destroys the covering of nerves. The myelin damage causing brown spots on the skin. Reflex arcs may not function as fast as required because the sensory neurons cannot send a signal fast enough to the central nervous system. The slow impulses to the muscles have an effect on the movement of the individual. This causes poor coordination, or in some cases improper speaking. In treatment some nerves may be totally lost in the surgical procedure, causing paralysis to a certain area of the body.
Neurofibromatosis directly targets the covering of the nerves. Individuals with neurofibromatosis have a possibility of developing neurofibromas, which are benign/non-cancerous tumours located on the covering of the nerves. Some tumours can be malignant, or cancerous. Malignant Peripheral Nerve Sheath Tumors (MPNST) can either occur spontaneously or in association with Neurofibromatosis 1. This is cancer known as sarcoma because it affects connective tissues and in this case the nerves. The reason why MPNST arises in Neurofibromatosis patients is that this sarcoma can culminate from preexisting benign/non-cancerous nerve sheath tumours, a harmless neurofibromatosis can lead to MPNST.
What part of the Nervous System is affected and how is it affected? If applicable, explain influences on the neuron, nerve impulse transmission, reflex arcs, synapses and sensory receptors. If applicable, explain how the major parts of the brain are impacted.
The effect this has on the endocrine system and homeostasis is an expanded rate of focal gifted pubescence, diencephalic disorder, GH insufficiency and GH hypersecretion has been depicted in NF1 kids. These conditions are general difficulties of optic pathway gliomas (OPG) including the hypothalamic and sellar area. All things considered, these endocrine issue have been watched additionally in youngsters without confirmation of OPG at attractive reverberation imaging. Clinical and research facility follow-up is significant in all kids with NF1, especially in those with an OPG, going for the early distinguishing proof of signs suggestive of optional endocrine adjustments.
On which chromosome is/are the gene(s) located? Where on the chromosome?
It is located on the Long arm of chromosome 17, on Band 11.2 (17q11.2)
How does the mutation occur within the DNA? What kind of mutation is it?
The NF1 gene has around 1000 identified variations. Many of these may be found in healthy individuals. In neurofibromatosis type 2 many different mutations have been identified. These include stop mutations, amino acid substitution, deletions, insertions, and even whole rearrangements of the chromosome. In some individuals, the mutations may not be identifiable.
Genetics of it; Dominant? Recessive? X-linked etc.
Neurofibromatosis type 1 is caused by a dominant gene mutation, so in this disease only one parent needs to have the gene in order to pass it on to the child. Children have a 50 percent chance of inheriting the disorder if one parent has it.
transmission of the disorder(pedigree chart)
Text
Odds of having it, or being a carrier per 1000 people in Canada.
An affected parent has a 50% chance of passing the mutated gene on to his or her child and is a dominant condition. 1 in 3000 people has a risk of having neurofibromatosis. Neurofibromatosis affects 100 000 people in Canada.
Calculate genotypic, phenotypic and allelic frequency calculations using Hardy-Weinberg.
0.33% 0.33^ 2 = 0.110889 0.110889-1= 0.889111
p= 0.110889 x 100 = 11% q= 0.88911 x 100 89% 0.110889 + 0.88911= 1
p^2 +2pq +q^2= 1 0.110889^2 + 2(0.88911)(0.110889) + 0.88911^2= 1
Allelic frequency= p= 11% q= 89%
Genotypes- NN= 0.0122963703 nn= 0.7905183703 Nn= 0.1971850376
Phenotype= 0.33%
Are there certain populations that have a higher frequency of the disease? How can this be explained?
Yes, a child whose parent is affected by this disease has a high frequency of being affected by it. This is because the disease is dominant.
https://www.cancer.net/cancer-types/neurofibromatosis-type-1
http://www.sarcomahelp.org/mpnst.html
http://www.healthcommunities.com/neurofibromatosis/treatment.shtml
https://www.webmd.com/pain-management/neurofibromatosis#2
https://www.mayoclinic.org/diseases-conditions/neurofibromatosis/symptoms-causes/dxc-20167896
https://emedicine.medscape.com/article/950151-overview
https://www.genome.gov/14514225/learning-about-neurofibromatosis/
https://pedigree.progenygenetics.com
http://www.understandingnf1.org/exp/int_exp_wci.html
http://www.chop.edu/conditions-diseases/neurofibromatosis-type-1
https://www.floridahospital.com/neurofribromatosis-nf/statistics-neurofibromatosis-nf