Cystic Fibrosis by PETER DECK
Genetic disease affect millions of people; most do not have cures. However, with the development of the CRISPR-Cas9 technology, the mutations of these diseases could be potentially corrected, as is the case of Cystic Fibrosis.
Cystic Fibrosis-- commonly referred to as CF-- afflicts over seventy thousand people worldwide, and thirty thousand in the United States alone. With years of research to its name, a cure has yet to be discovered. However, extensive progress has been made, including a complete understanding of CF’ s functionality and several advancements in alleviating its negative effects.
CF is an autosomal recessive disease, meaning someone with CF must have two copies of the required defective gene coming from each parent. This gene, located in chromosome seven, is called the CFTR( Cystic Fibrosis Transmembrane Conductance Regulator) gene, which acts as a channel for chloride ions moving in and out of cells to regulate water and salt on the epithelial surfaces-- a sheet of cells covering organs in the ventral body cavity-- on the lungs and pancreas.
To begin with, this CFTR gene is supposed to have a DNA sequence transcribed into mRNA, and have that mRNA message translated into amino acids. Next, those amino acid chains fold up into the necessary three-dimensional shape where they act as ion channels. However, during this process, over a thousand mutations can occur that lead to CF.
Generally, these mutations are classified into six classes, categorized by their effects. Someone with Class I CF lacks the production of any CFTR protein, and affects under ten percent of the CF population. A carrier with Class II never has their amino acid reach the cell membrane due to the deletion of the amino acid phenylalanine at F508, and impacts over eightyfive percent of CF carriers. Classes III and IV experience the decreased conductance skills ion, while clas-
26 | THE BELL NUCLEUS · Jan 2016