Neurofibromatosis Type one (NF1) is the most common genetic disease in the world, and it affects one in every 3,000 to 4,000 births worldwide (Children’s Tumor Foundation, 2014). Neurofibromatosis comes in three different types: Schwannomatosis is the most severe, then Neurofibromatosis Type two (NF2), and finally the least severe, Neurofibromatosis Type one. Depending on the severity of NF1 a person could live a perfectly normal life; however, life-debilitating complications are still possible and treatments can be time consuming.
NF1 is also known as Recklinghausen Neurofibromatosis or Peripheral Nerve Neurofibromatosis (Children’s Tumor Foundation, 2014). The nervous system consists in two parts: the central nervous system(CNS) and peripheral nervous system(PNS). The CNS consists of the brain and spinal cord, while the PNS consists of all the cranial and spinal nerves in the body (Shire, Butler, Lewis, 2013, pg.361). A person who has NF lacks a protein that prevents tumors from growing anywhere in the nervous system.
What causes this lack of protein? NF1 falls on the seventeenth chromosome and its exact location on the chromosome is 17q11.2 or between the 31,045,487 to 31,377,676 gene (National Library of Medicine, n.d). The NF1 gene is supposed code for a protein called neurofibromin. Neurofibromin is a specialized protein that produces oligodentritcyte (National Library of Medicine, n.d.). Oligiodentritcyte forms the myelin sheath, which is also known as the Schwann cell, which is found on the axon of a neuron in the PNS (Shire, Butler, Lewis, 2013, pg.361). Neurofibromin acts like a tumor suppressor protein, so a person with NF1 is more prone to getting tumors, so without neurofibromin the mitosis cycle conti...
... middle of paper ...
...ere are three types of Neurofibromatosis, which are Schwannomatosis, which is the most severe, NF2, and finally the NF1, which is the most common. NF1 occurs one in every 3,000-4,000 births worldwide. Unfortunately, there still is no cure even though NF1 is the most common genetic disease in the world. Each person with NF1 has a unique case that can vary in the severity of their complications, one person my not be affected by it that much, while another is greatly impacted by it, and potential could need a lot of time consuming treatments.
References
Children’s Tumor Foundation (2014). http://www.ctf.org/Learn-About-NF/Learn-About-NF.html
National Library of Medicine. (n.d.). Retrieved from http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1
Shier. D, Butler. J, & Lewis. R. (2013). Holt’s Human Anatomy & Physiology. Thirteenth edition.
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
Marieb, E. N., (2006). Essentials of human anatomy and physiology. San Francisco, CA: Benjamin Cummings.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
have been cases of ALS linked with the mutation in the gene that produces SOD1
Introduction to Human Anatomy and Physiology Third Edition by Eldra Pear Soloman (pgs. 51 and 58)
There are many disabilities that affect the Musculoskeletal System. One disability is Spina Bifida, which is a series of spinal cord defects caused by abnormal fetal development. We don’t know all the causes of spina bifida. Genetics and the environment may play a role in causing spina bifida. Spina bifida can range from mild to extreme. Some people may have little to no disability while others people may be limited in the way they move. Some people may even be paralyzed or unable to walk or move parts of their body. Although, most people affected by spina bifida lead full and productive lives. There are three types which include myelomeningocele, occulta, and meningocele. Depending on the classification there will be different characteristics and symptoms. It may be treated in different setting, with different potential treatment ideas.
Neural tube defects occur in every 2,000 births. Two common forms of neural tube defects are spina bifida, in which the spinal cord isn't completely enclosed, and anencephaly where part of the brain is absent Spina bifida may be mild or severe. Treatment include excersise and physhichal therapy or corrective surgery.
Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female.
It is also estimated that approximately two and half million people are living with the disease... The name multiple sclerosis refers to the scars that are present in the brain and spinal cord is seen on an MRI. An autoimmune disorder is where a person’s immune system mistakes its own white blood cells as invaders and begins to attack itself damaging healthy body tissue. In these types of disorders, the immune system cannot tell the difference between healthy cells and antigens, which are foreign invaders like bacteria and viruses. Because of the damage, it does to the nerve cells; nerve signals can either slow down or stop completely. Inflammation, or the body’s reaction to infection, is what causes this nerve damage to happen. Multiple sclerosis is most commonly seen in the brain, optic nerve, and spinal cord and often leads to physical and cognitive
A neural tube is a tube that begins developing in an embryo that eventually become the spinal cord. A neural tube defect occurs at the beginning of pregnancy, often within the first month, when the neural tube does not close properly. This will cause, later on in development, a hole in the spinal cord. The most common type of this defect is called Spina Bifida. There are different types of Spina Bifida, some more mild than others. The most severe type of Spina Bifida, called Spina Bifida Myelomeningocele, causes many problems including partial or complete paralysis below the defected area of the spine, urinary and bowel issues, and excess fluid on the brain, which can cause learning or intellectual disabilities. The mildest type of Spina Bifida, Spina bifida occulta, does not cause any disabilities, but still presents an opening in the spinal cord (How do health care, 2012).
Why does this self-inflicted deconstruction of the myelin occur? Multiple sclerosis is said to have genetic and environmental factors to its cause. Malnutrition and free radicals can all trigger a dormant M.S. gene in a person. According to the National Multiple Sclerosis Society, What Causes MS, studies say that “Growing evidence suggests that vitamin D plays an important role. People who live closer to the equator are exposed to greater amounts of sunlight year-round. As a result, they tend to have higher levels of naturally-produced vitamin D.” In fact, vitamin D holds specific immune strengthening qualities. Make it a priority to remain nourished, keeping your immune system at optimal strength, thus preventing pos...
Therefore, NFS is inherited as an “autosomal recessive trait” which means that there are 2 copies of the mutation, which are required to produce a positive offspring.
With motor neurone disease it attacks the nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting. In the case study the
Thibodeau, G & Patton, K. (2008) Structure and Function for the Body. 13th Edition. St. Louis: Mosby Elsevier.
New York: Oxford University Press, 2003. eMedicineHealth.com - eMedicineHealth.com - eMedicineHealth.com - eMedicineHealth.com - eMedicineHealth.com - eMedicineHealth.com - 2013. The. Anatomy of the Central Nervous System. Pictures and Information on eMedicineHealth.com.