Opinion about this implications:
Based on what I research, I believe that epigentics shouldn't be applied and used to solve Fragile X syndrome.
Firstly, near the FMR1 gene is a regulatory site called CpG island. In people that have fragile x syndrome this site is methylated. Therefore, the cell is unable to copy the information in the FMR1 gene. Since mRNA copy is not made FMRP will not be synthesized. Since there is no FMRP at the time and place, it is needed, the characteristics of fragile x syndrome are shown.(National fragile x foundation, 1998-2016)
Furthermore, much of the focus on fragile x syndrome is on the expansion of the repeated sequence CGG's. But its not the expanssion that directly causes the problem. Instead, having a 200 CGG repeat sets in motion methylation of part of the FMR1 gene. The methylation absense of FMRP causes fragile x syndrome.(National fragil x foundation, 1998-2016)
In conclusion,epigenitcs shouldn't be applied because the treatments used instead of solving this disease, it cuases the illness. If methylation could be removed from FMR1 gene, it could allow access to the FMR1 gene and allow its FMRP product met with the FMR1 gene. (National fragile x foundation, 1998-2016)
Benefits and Limitations:
Limitations:
The limitations of using these applications are more than the benefits, Firstly, because males with FMR1 full mutation accompained by abnormal methylations may have characteristc appereance(large head, long face, porominent forehead and chin, protruding ears), connective tissue findings(joint laxity) and behavioral abnormalities(sometimes including autism spectrum disorder). Furthermore, in people that have fragile x syndrome their regulatory site called Cpg island is methylated, therefore the cell is unable to copy the information in the FMR1 gene. Since mRNA's copy is not made, FMRP will not be synthesized. SInce there is no FMRP at the time and place needed, characteristics of fragile x syndrome start to show. (National fragile x foundation, 1998-2016)
Benefits:
In fragile x syndrome methylation is a usefull method for turning off chromosomal information. This epigenetic changes promote a heterochromatic configuration that excludes the binding of specific transcriptional factors, thus turning gene expression off. More over the inactivation of female X chromosomes by methylation, determine the impact of a full fragile X mutation on females. Each cell in a female will inactivate or turn off one of its two X chromosomes. If a large portion of the cells turn off the X chromosome with fragile x mutation, the most of the cells will have an an active X chromosome that can produce FMRP. As a result the impact of fragile x syndrome will be limited. (National fragile x foundation,1998-2016) Proving that also the application of epigenetics can have some benefits in female inactivation of X chromosome for preventing a fragile x syndrome in their offspring.