Fragile X Syndrome : A Mutation That Can Create A Better Future For Them

907 Words Dec 2nd, 2015 4 Pages
Fragile X syndrome is a mutation that can occur on a segment of a human being’s DNA. The disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell. As a result, Fragile X is also referred to as the Martin-Bell syndrome because of their discovery. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that victims of this mutation will possess an X chromosome with an unusual gap that appears broken. The gap on the chromosome is called a ‘fragile site,’ which is where the name originates from. Fragile X is a cureless mutation that is genetically passed down to offspring, so researchers are currently attempting to improve the victims’ symptoms in hopes that they can create a better future for them. Fragile X is a mutation that arises from the repeating of the DNA triplet sequence cytosine-guanine-guanine (CGG) in the FMR1 gene. This gene gives the directions for making a protein called fragile X mental retardation 1 protein, or more commonly known as FMRP. The protein can be found in the brain, ovaries, and testes. CGG is supposed to replicate around 30 times in the FMR2 gene for normal neural development. However, when someone has Fragile X the CGG sequence expands to more than 200 times. The FMR1 gene will eventually turn off because of the rapid expansion of CGG. Therefore, the neural development will not be able to…

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