The Effect Of Cystic Fibrosis Essay

The Effect Of Cystic Fibrosis Essay

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The effects of cystic fibrosis can be broken down to a micro-perspective investigation in both the genotype, the encoding of the DNA, and the phenotype, the expression of DNA to trait. A precursor to the expression of cystic fibrosis, is through the inheritability pattern of cystic fibrosis from both parents. Cystic fibrosis is an autosomal recessive disease, meaning in the DNA of each parent, each had one copy of these recessive trait which is not expressed through them. However, with both parents being carriers, the offspring has a 25% chance of inheriting cystic fibrosis, a 25% chance of inheriting non-mutated genes and a 50% chance of being a carrier of the cystic fibrosis gene (Mayer-Hamblett, 2016). As the instructions for cystic fibrosis is inherited from parents, it then begins to be expressed. Following the central dogma of biology, from DNA to protein to trait, the overview of the process of inheriting and expressing cystic fibrosis can be followed initially by a mutation occurrence in DNA replication, then that mutation encodes for a mutated version of the protein called cystic fibrosis transmembrane conductance regulator (CFTR), finally this protein is expressed through various life threatening symptoms. DNA is at the first level of inquiry that many researchers have chosen to target to aid those who express cystic fibrosis. To reiterate, cystic fibrosis is an error in genetic sequence within a specific chromosome that is inherited by both parents. The most common error, rather the cystic fibrosis of the lungs, is due to the mutation of three nucleotides on the genetic code. This mutation is called a point mutation and is one of three major mutations encountered in biology. A point mutation is a change in one or more n...


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...is. The excess of chloride in sweat glands of those who have cystic fibrosis allow for easy indication of an imbalance in the body. Gene therapy is another means of treatment at genetic level of cystic fibrosis but most practices and research of gene therapy are still undergoing pipeline processes. Through gene therapy a variety of biochemical can induce transplantation of correct genes for mutated genes. Another and more common treatment of cystic fibrosis is through personalized medicine, some examples of this are PTC 124, a compound that stops the missense mutation, and modulators for CFTR, which increase productivity and efficiency of available CFTR genes. There continues a pipeline of various other drugs and treatments that are still being researched. However, these advancements continue to help understand and overcome inheritable diseases like cystic fibrosis.

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