User:Abraham Thompson/sandbox


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 Article Evaluation: CRISPR 


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The α-actinin-3 gene, and subsequently the ACTN3 protein, was identified by Dr. Kathryn North and her team who, in 1996, were examining any correlation between genes and muscular dystrophy and discovered that one out of five patients suffering from muscular dystrophy did not have α-actinin-3 (North & Beggs, 1996). After announcing the existence of α-actinin-3, Dr. North and her team took three years to research why there was a large amount of the healthy population that lacked α-actinin-3 that were unaffected by muscular dystrophy or other diseases that can occur when there is a nonfunctional gene (Women in STEMM Australia, 2018). Approximately 16-18% of the world’s population is predicted to have a complete deficiency in the ACTN3 protein.

The human ACTN3 gene spans 17 kilobases (kb) in length and is located on the long (q) arm of chromosome 11 at region 1 band 3, from base pair 66,546,395 to base pair 66,563,329 (Build GRCh38.p12) (map). ACTN3 orthologs have been identified in most mammals for which complete genome data are available.

In humans, an allelic polymorphism of the ACTN3 gene results in the gene not coding the ACTN3 protein. Multiple studies have investigated this non-coding variant to see whether there is a link to it and diseases. However, the results of the studies returned unexpected results. The original 1996 study that led to the discovery of the ACTN3 gene suggested that the deficiency of ACTN3 was a marker for Congenital muscular dystrophies (CMD). A 1997 study examining muscle biopsies found no correlation to ACTN3 deficiency and muscle degradation. A 2007 study observing the functional capacity of women with McArdle’s disease proposed the women with the ACTN3 deficiency had a higher functional capacity than those with ACTN3. A 2017 study suggested that the ACTN3 deficiency not only improves the progression of Duchenne muscular dystrophy (DMD), but triggers calcineurin in fast fibers, a protective phosphatase found in slow fibers.