FORMAL NAME OF DISEASE


A1AT Molecule
A1AT Molecule


Nature of the Genetic Difficulty


Alpha-1 antitrypsin deficiency is a recessive genetic condition caused by mutation of the gene SERPINA1 which is located on Chromosome 14
(base pairs 94,843,083 to 94,857,028). There are over 120 mutations which can lead to Alpha-1, but the most common mutation is the replacement of the amino acid glutamic acid (GAG) with the amino acid lysine (AAG) at protein position 342. This results in a defective form of the protein.


Basis Facts of Disease

Alpha 1-antitrypsin deficiency leads to decreased A1AT-a protein which protects tissues from enzymes of inflammatory cells, especially neutrophil elastase-
activity in the blood and lungs, and excessive deposits of the A1AT protein in the liver. Depending on whether the patient has one or two copies of the affected gene (it is a co-dominant trait), there are different forms of the deficiency. It is most commonly treated by avoiding inhalants, by injections of the A1AT protein, and by transplantation of the liver or lungs.

Symptoms include:
  • shortness of breath
  • wheezing
  • rhonchi
  • rales

Prognosis

On top of reducing life expectancy, many adults with the A1AT deficiency will suffer from panacinar emphysema or COPD as well as various liver diseases.

Sources Cited

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684682/pdf/ajhg00161-0034.pdf
http://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency
http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(05)66781-5/fulltext
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1746985/?tool=pmcentrez