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Proteus Syndrome

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by

Madison Farrish

on 15 April 2013

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Transcript of Proteus Syndrome

What is Proteus Syndrome? Proteus Syndrome Proteus Syndrome is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body. How is the order inherited? This genetic disorder is not inherited, it is caused by a mutation in the AKT1 gene. Symptoms: Fatty tissue overgrowth

Skin overgrowth

Bone tissue overgrowth

Increased stature

Underweight

Large head

Generalized fatty tissue overgrowth

Generalized skin overgrowth GENE AKT1 “This mutation changes a single protein building block (amino acid) in AKT1 kinase. It replaces the amino acid glutamic acid with the amino acid lysine at protein position 17 (written as Glu17Lys or E17K)." Impacts on Life
This link leads to a page with a boy named Jordan who was diagnosed with Proteus syndrome. It shows him and his family both in the medical facility and on vacation. From reading his story and looking through the pictures, you can tell that life is very difficult for Jordan compared to a normal, healthy human. However, his family takes the bad situation and flips it around with optimism and happy events for Jordan to distract himself with. Congenital disorder- condition existing at birth and often before birth, or that develops during the first month of life regardless of causation. In the early phases of development prior to birth this genetic change will arise in one random cell. While cells continue to divide and grow some carry the mutation and some do not (mosaicism). Gene AKT1 is a gene that helps control cell growth, death, and division. Due to the fact that there is a mutation in this gene, the cell has no control of it’s growth. This genetic disorder is not inherited, it is caused by a mutation in the AKT1 gene. Remember? “Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome.” Proliferation is the rapid reproduction of a cell, part, or organism. Point mutation and Missense mutation! The Glu17Lys mutation causes the creation of an overactive AKT1 kinase that is triggered at a time it shouldn’t be. The abnormally active protein hinders the cells ability to control its own growth, causing the cell to grow and divide abnormally.

Generalized bone tissue overgrowth

Localized fatty tissue overgrowth

Localized skin overgrowth

Localized bone tissue overgrowth

Generalized ski thickening

Hyperpigmented areas of skin Lipomata

Lymphangiomata

Hemangiomata

Skeletal hemitrophy

Bony skull prominences

Angulation defects of knees

Scoliosis

Kyphosis

Hip dislocation Valgus deformities of feet

Clinodactyly

Dysplastic vertebrae

Coarse ribs

Coarse scapula

Macrodactyly

Soft tissue hypertrophy

Hallux valgus Effects? The tumors caused by the genetic mutation (depending on where they are) can affect anything from the person's speech to the way the person walks. Treatments? There is no treatment yet for this genetic disorder. However, there are some drugs that have proven successful with some patients. "Rapamycin”...a drug that reduces the efficiency of the immune system (usually used in kidney transplants & helps prevent rejection of organs in organ transplants). Drugs proven to work? “Prevents activation of T cells and B cells by inhibiting their response to interleukin-2 (IL-2).” This drug was tested on a patient in Australia with the disorder and it was proven successful. (http://www.proteus-syndrome.org.uk/sections.php?name=Jordan) Interesting Facts: -Another name people use for proteus syndrome is PS.




-Named after the Greek sea-god Proteus, who could change his shape. -First recognized by Michael Cohen Jr. in the year 1979 and later named as proteus syndrome by Hans-Rudolf Wiedemann, a German pediatrician, in the year 1983. -"Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition."
- Joseph Merrick, “The Elephant Man”
- Lived from 1862-1890 (28 Years)
- Man who suffered from a combination of neurofibromatosis type I and Proteus syndrome. Re-enactment of a speech by "the Elephant Man". Pictures of the "Elephant Man" throughout his life... 1. "AKT1." - V-akt Murine Thymoma Viral Oncogene Homolog 1. N.p., n.d. Web. 13 Apr.
2013.

2. "Proteus Syndrome." Current Health Articles and Tips. N.p., n.d. Web. 13 Apr. 2013.

2. "Proteus Syndrome." - Genetics Home Reference. N.p., n.d. Web. 13 Apr. 2013.

3. "Proteus Syndrome." Symptoms, Diagnosis, Treatments and Causes. N.p., n.d. Web. 13 Apr.
2013.

5. "Proteus Syndrome Foundation UK." Proteus Syndrome Foundation UK. N.p., n.d. Web. 13
Apr. 2013.

7. "Proteus Syndrome." Wikipedia. Wikimedia Foundation, 13 Apr. 2013. Web. 13 Apr. 2013.

8. "Sirolimus." Wikipedia. Wikimedia Foundation, 13 Apr. 2013. Web. 13 Apr. 2013. Reference List: Examples in history: By: Madi Farrish The End! Raising Awareness! http://www.proteus-syndrome.org.uk This website gives information about both the disorder and about Jacob and kids like him and their journeys.
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