Fragile X Essay

907 Words 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 …show more content…
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 properly function. The shortage of FMRP production leads to a disruption in the nervous system, which is the reason why intellectual disability is the greatest issue for this …show more content…
Autism, also known as autistic spectrum disorder, is a developmental disorder that affects the brain’s development of communication and social skills. It appears very early in a baby’s life; usually in its first three years. Autism is the end result of a neurological disorder that affects the natural roles of the mind. The only genetic connection to autism is Fragile X syndrome. They both can express the same symptoms as each other but are two different diagnoses. In spite of this, people who have Fragile X can also be diagnosed with autism, and vice versa. Autism and Fragile X are diagnosed differently because autism is a behavioral diagnosis while Fragile X syndrome is a genetic

Related Documents