AAT is a type of protein that inhibits enzymes from degrading standard host tissues. Thus, an individual who lacks AAT may develop a hereditary condition known as Alpha-1-antitrypsin deficiency (AATD). This condition is always characterized by low amounts of serum in the body (Greulich & Vogelmeier, 2016). Thus, it leads to the loss of antiproteolytic and anti-inflammatory functions. The loss of these functions contributes to the increased degradation of protein and inflammation. One of the significant consequences that are apparent after developing AATD is the vulnerability to chronic obstructive pulmonary disease. Emphysema is also a probable condition that an individual diagnosed with AATD is likely to develop (Stoller, Lacbawan & Aboussouan, 2017). AATD is a rare disease that is underdiagnosed in most cases. This is an implication that an individual may have the condition but will require extensive scrutiny to establish if it is AATD.
AATD has also been recognized as one of the diseases that have been accorded little knowledge. Thus, many people are not aware of the causes, symptoms, or forms of treatment. This is a factor that has stalled the efforts of ensuring that cases of AATD are addressed adequately. The diagnosis of AAT is determined by evaluating serum levels, and if found to be low, significant efforts should be made to identify the genetic problem. One of the ideal methods used in cloning AAT is the transcription method. According to Matamala et al. (2015), three quantitative assay that comprises 1A, 1B, and 1C are effective in cloning the AAT gene. The assays take the procedure of SERPINA1 transcripts that have been identified as ideal for the AATD condition. The utilization of these assays helps in understanding the relationship between the identified genes and the diseases related to mutation.
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References
Greulich, T., & Vogelmeier, C. F. (2016). Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis. Therapeutic Advances in Respiratory Disease , 10 (1), 72–84. doi:10.1177/1753465815602162.
Matemala, N., Martinez, T. M., Lara, B ... & Martinez-Delgado, B. (2015). Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency. Journal of Translational Medicine, 13 (211); 1-11.
Stoller, J. K., Lacbawan, F. L., & Aboussouan, L.S. (2017). Alpha-1 antitrypsin deficiency . In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1519/
