Proteus syndrome is an exceptionally rare disorder that effects the growth of a wide spectrum of tissue types in the human body. Virtually any organ or structure of the body is vulnerable to its affects, which are most commonly characterized as being hamartomatous malformations. Due to its unpredictable nature, those of whom suffer from this condition experience distinctive mutations of their bodily tissues which appear asymmetrically and can be located randomly throughout the body. Although Proteus syndrome itself is not a fatal condition, it can potentially spawn life-threatening complications which, if left untreated, can lead to death. In addition to the effects on body tissues that Proteus syndrome can cause, some patients can also develop
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With Proteus syndrome, however, only one mutated cell before birth is affected whereas cancerous cells are constantly being produced (although they are usually destroyed by the immune system before any damage is done to the body). The mutation becomes apparent in a single cell during the earliest stages of prenatal development, and inhibits its ability to regulate its own growth and division. As the cells continue to divide exponentially through a process called cell proliferation, the mutation is passed along and spreads throughout the ever-growing network of cells. Because the mixture of cells contains both mutated and normal cells, this type of cell division is referred to as mosaicism. Mosaicism, in other words, is the combination of two or more diverse elements which ultimately form an entire entity composed of multiple different components. Since this occurs before the cells begin to specialize for specific tasks through a process called cell differentiation, the increased number of cells ends up being distributed to various regions of the body once they actually do undergo the differentiation process. Therefore, many areas of the body end up receiving a dramatic surplus of cells compared to that of an average human being. This explains why Proteus syndrome is characterized by random, asymmetrical tissue malformations which cause …show more content…
The AKT1 gene belongs to a category of genes called “oncogenes”, which can potentially cause cells to become cancerous or exhibit cancer-like qualities when mutated, depending on the type of mutation present. The exact cytogenetic location of this mutation, an activating mutation officially called “c. 49G>A, p.Glu17Lys”, is notated as 14q32.32. As stated previously, cells containing this AKT1 gene mutation are unable to regulate their own division and growth, thus leading to increased cell proliferation as well as abnormal development. Additionally, this mutation prevents cells from dying off through a process called apoptosis, even if they begin to exhibit properties that would normally prompt them to do so. Such behavior is a product of a specific altercation in the cells’ section of genetic code responsible for producing a protein called “AKT1 kinase”, which is specifically designated to regulating cell proliferation, cell differentiation, and apoptosis among other additional functions involving the nervous system. Examples of these include intercellular communication between neurons, survival of neurons, and even memory formation. This helps to explain some of the
With Proteus syndrome, however, only one mutated cell before birth is affected whereas cancerous cells are constantly being produced (although they are usually destroyed by the immune system before any damage is done to the body). The mutation becomes apparent in a single cell during the earliest stages of prenatal development, and inhibits its ability to regulate its own growth and division. As the cells continue to divide exponentially through a process called cell proliferation, the mutation is passed along and spreads throughout the ever-growing network of cells. Because the mixture of cells contains both mutated and normal cells, this type of cell division is referred to as mosaicism. Mosaicism, in other words, is the combination of two or more diverse elements which ultimately form an entire entity composed of multiple different components. Since this occurs before the cells begin to specialize for specific tasks through a process called cell differentiation, the increased number of cells ends up being distributed to various regions of the body once they actually do undergo the differentiation process. Therefore, many areas of the body end up receiving a dramatic surplus of cells compared to that of an average human being. This explains why Proteus syndrome is characterized by random, asymmetrical tissue malformations which cause …show more content…
The AKT1 gene belongs to a category of genes called “oncogenes”, which can potentially cause cells to become cancerous or exhibit cancer-like qualities when mutated, depending on the type of mutation present. The exact cytogenetic location of this mutation, an activating mutation officially called “c. 49G>A, p.Glu17Lys”, is notated as 14q32.32. As stated previously, cells containing this AKT1 gene mutation are unable to regulate their own division and growth, thus leading to increased cell proliferation as well as abnormal development. Additionally, this mutation prevents cells from dying off through a process called apoptosis, even if they begin to exhibit properties that would normally prompt them to do so. Such behavior is a product of a specific altercation in the cells’ section of genetic code responsible for producing a protein called “AKT1 kinase”, which is specifically designated to regulating cell proliferation, cell differentiation, and apoptosis among other additional functions involving the nervous system. Examples of these include intercellular communication between neurons, survival of neurons, and even memory formation. This helps to explain some of the