Why Is Retinoblastoma Important

Improved Essays
Mrs. Schwieterman
Biology
20 January 2016

Retinoblastoma Every single day, our cells are duplicating and replacing worn out cells. They are able to do this through the cell cycle in which genetic information is dulicated and split up forming new cells. During the cycle there are various checkpoints monitering the progress of the cell. If there were to be a mutation, the checkpoints could destroy the cell. However, like most things, there are a few cells thaat contain mutations that pass through the checkpoints. The cells who pass through and reproduce uncontrolably are called cancer. Cancer cells crowd out healthy cells making it harder to or unable to function. An eye cancer, for example, may result in the loss of vision in the affected eye.
Retinoblastoma is a rare cancer that forms on the retina of the eye after a genetic mutation occurs in retina nerves (National Cancer Istitute). These mutations can be spotanious or passed down through the genes given to us by our parents (KidsHealth). Twenty percent of cell mutations causing retinoblastoma are hereditary (Geneticts Home Refrence). Only one parent needs to pass on a sigle copy of the mutated gene to increase the risk of their offspring devloping retinoblastoma.
…show more content…
Retinoblastoma is a cancer that has a few symptoms and many of which can be taken for other problems within your eye. Redness of the sclera, irritation, swelling aroud the eye, persistant eye pain, blindness, poor vision, crossed eyes, and eyes that look different ways are the most common symptoms. The most notable sign of retinoblastoma is the pupil turing white when a bright light is shone in it. Printing of a picture after it is taken with a flash is a common way of finding out that someone has retinoblastoma. The pupil is transparent so a bright light will allow an abnormality such as a tumor to be seen in the back of the eye (Overview; Geneticts Home

Related Documents

  • Improved Essays

    Most cancer results from faulty DNA repair mechanisms. 40. Cells become cancerous from point mutations (CpG transition in p53), double-stranded breaks, major chromosome rearrangements, chromosome loss/gain, loss of checkpoints, activation of oncogenes, and turning off tumor suppressors via hypermethylations. 41. Mutations and chromosomal abnormalities will affect the regulation of proteins or the structure of the proteins.…

    • 1697 Words
    • 7 Pages
    Improved Essays
  • Superior Essays

    Li Faumeni Syndrome

    • 1484 Words
    • 6 Pages

    Abstract Li-Fraumeni syndrome is an inherited disorder and leads to the presentation of various types of cancer in a family. This experiment was conducted to determine first, based on Valerie’s family pedigree, if Li-Fraumeni syndrome is present in her family and who has been affected by it. Once this was established, gel electrophoresis was used to compare samples of Valerie’s blood and normal breast tissue to her tumor tissue and to a wild type DNA fragment to see whether or not her cancer has metastasized; it did not appear that this was the case. Lastly, her children’s p53 gene was sequenced and compared to the wild type p53 sequence to determine whether any of them carried the mutation. Two of her children do have the mutation at two points…

    • 1484 Words
    • 6 Pages
    Superior Essays
  • Decent Essays

    The Knudson’s “two-hit hypothesis” is based on the idea that due to mutations, the tumor suppressor genes (TSGs) are inactivated by the loss of both alleles of the gene. As a result of this process, a tumor can be formed, since TSGs are responsible for controlling the proliferation, differentiation and apoptosis. As a matter of fact, in most cancers TSGs are not present, leading to the conclusion that their inactivation is a significant part of the development of a tumor. Those deductions could be made through the study of retinoblastoma, a disease that affects the eye of children, and its TSG called Rb. There are two types of the disease, familial and sporadic.…

    • 403 Words
    • 2 Pages
    Decent Essays
  • Decent Essays

    Symptoms of retinoblastoma include white pupils, inflamed or swollen eyes, and enlarged pupils. Retinoblastoma causes blurry vision or blindness and will lead to removal of the eye or eyes in order to prevent potential spreading of cancer, as the tumors within the eye would infect neighboring cells.…

    • 100 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Published in 2015, the Retinitis Pigmentosa article, provided by The Gale Encyclopedia of Genetic Disorders, defines retinitis pigmentosa as a disease that “refers to a group of inherited disorders that slowly lead to blindness due to abnormalities of the photoreceptors (primarily in the rods) in the retina.”. The article explained what happens throughout the eye of a retinitis pigmentosa or a RP patient. In the article readers were told how RP only affects the eye. However since most of human functions use the help of the human eye, it can majorly affect their life.…

    • 528 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Oculocutaneous Albinism

    • 913 Words
    • 4 Pages

    Albinism is a genetic disorder characterized by a minimal production of melanin in the skin due to mutations in several genes. These variety of mutations can result in an immensely lower amount of melanin produced in the skin. For instance, there are four sorts of albinism that are determined by which mutated gene had created the disorder. They consist of oculocutaneous albinism, x-linked ocular albinism, hermansky-pudlak syndrome, and chediak-higashi syndrome. Oculocutaneous albinism (OCA) is where there is a mutation in one gene out of the four.…

    • 913 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Common tumors are often caused by mutations in the genes that may potentially lead to varying protein structures, which do not correlate with their proper functions (1). Majority of these mutations arise as a result of substituting one nucleotide base pair for another, but a significant number are also from adding or removing one of more of these nucleotides that ultimately disrupts protein translation (1). One of the mutated genes linked to cancer is BRCA1 (2,3,4). BRCA1 stops tumor growth by suppressing the cell’s progression further into the cell cycle especially at G1 and G2 checkpoints (2). Missense mutations observed and studied in BRCA1 allowed researchers to believe that BRCA1 plays a role in turning on transcription for many other genes involved in regulating cell proliferation (2).…

    • 619 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    The retinal pigment epithelium (RPE) is very a important part of the eye; It is responsible for absorption of scattered light, the visual cycle and phagocytosis of photoreceptor outer segment membranes. The protein RPE65 is normally abundantly made in the RPE, unless there is a mutation in the RPE65 gene, caused by a deletion of 4 base pairs. This deletion causes a frame shift and also an early stop on the protein, so the protein is shorter and does not function properly. The mutated gene is recessive, so when the mutated RPE65 gene is homozygous in animals, it causes an early onset retinal degeneration. Most sufferers of this mutation experience a lack of rod electroretinography, complete night blindness and weak cone responses.…

    • 844 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Cell Cycle Checkpoints

    • 347 Words
    • 2 Pages

    The checkpoints in the cell cycle There are several checkpoints the eukaryote cell cycle that controls the cells from proceeding from one to the next phase of the cell cycle. The point where the cells start to enter the cell cycle is at the G1 checkpoint, which is also known as the restriction checkpoint. At this point, the Retinoblastoma interacts with the E2F, which is the transcription factor to make cyclin E causes the E2F to be inhibited upon interaction. Cells with damaged DNA get arrested at the G1 checkpoint and is prevented from entering the S phase. The DNA damage has to be repaired before moving on to the next phase.…

    • 347 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    In conclusion, we see that retinoblastoma is a serious issue and without proper care, can create a major problem. We see the treatments and precautions that can be taken to cure and successfully get rid of the disease in your body. With these treatments, many thousands of lives saved every…

    • 1094 Words
    • 5 Pages
    Improved Essays
  • Improved Essays

    Diabetic Retinopathy

    • 199 Words
    • 1 Pages

    Diabetic retinopathy (DR) is a microvascular complication that occurs due to prolonged hyperglycemia. In the early stages of diabetic retinopathy, patients are generally asymptomatic; in the more advanced stages of the disease severe clinical manifestations appears, which include blurred vision floaters, distortion, blurred vision and progressive visual acuity loss. Signs of diabetic retinopathy include the following: dot and blot hemorrhages, micro-aneurysms, flame-shaped hemorrhages, cotton-wool spots, retinal edema and hard exudates, intra-retinal micro-vascular abnormalities and macular edema. DR is currently one of the most prevalent diseases worldwide with an incidence rate of 5% and 60% uncertainty in clinical diagnosis. The current diagnostic clinical practice of DR uses fundus imaging employing opthalmoscope Optical Coherence Tomography (OCT) and Fluorescence Angiography (FA).…

    • 199 Words
    • 1 Pages
    Improved Essays
  • Improved Essays

    Ghatak, and P. Das (the scientists mentioned previously) conducted included the study of 526 genes accessed from a list that included 572 verified mitotic genes found on a COSMIC v67 database. The percent mutation for each gene was calculated and resulted in two separate, testable hypotheses. One stated that a mutation in the SAC (Sacisn Molecular Chaperone; gene used to encode sacsin, which is predominantly found in the nervous system) genes, as well as similar genes, inhibited pivotal checkpoints in mitosis, allowing mutated cells to continue replication. The other stated that a mutation that resulted in the deactivation of any gene vital to the cell would cause the cell to kill itself in a process called apoptosis. They were also able to reason that mutations in the checkpoint genes themselves were not the cause for the unusual checkpoints in cancerous cells; these mutations simply change the protein levels in the new…

    • 838 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Cancer Stem Cells Essay

    • 756 Words
    • 4 Pages

    The characteristic of self-renewal is exclusively prominent, because its destabilization is highly applicable to oncogenesis and malignancy (Jordan, et al. 2006).…

    • 756 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Diabetic retinopathy When you hear the words, “diabetic eye disease” do you know what it refers to? Would you be surprised to hear that it actually refers to a group of eye problems as opposed to just one eye problem? Diabetic eye disease categorises a group of eye problems that are faced by those suffering with diabetes, all of which may lead to a severe amount of vision loss or even total blindness. Diabetic eye disease can include glaucoma, which happens as a result of an increase in fluid pressure on the inside of the eye. This can lead to optic nerve damage and potential vision loss.…

    • 1655 Words
    • 7 Pages
    Improved Essays
  • Great Essays

    Desmoplastic Ameloblastoma: A Case Report Abstract Ameloblastoma is the most common odontogenic tumor of epithelial tissue origin. There are various types of Ameloblastomas. In that, Desmoplastic ameloblastoma is one of the rare variant of ameloblastoma. Because of its rare occurrence, exact nature of the lesion yet to know.…

    • 2173 Words
    • 9 Pages
    Great Essays