Z protein is a genetic alteration
What is Z protein? “Almost all cases of DAAT are caused by a single mutation in the A1AT gene, known as the Z mutation”.
¿What is the function of Z protein?
AATD, a genetic disorder that causes the lack of a protein made by the liver, which is released into the bloodstream.
This protein is designed to protect body tissues from attacks by its own enzymes.
What it is said?
Almost all cases of DAAT are caused by a single mutation in the A1AT gene, known as ‘factor Z‘.
AATD affects approximately one in every 2,000 people in Western countries. This mutation in the DNA encoding the protein alpha-1-antitrypsin (A1AT) causes both liver and lung disease.
¿What happen in our body?
“The Z mutation causes most of the A1AT to fold incorrectly, forming polymers that remain in the liver rather than being secreted into the blood, where it plays a key role in protecting the lungs and other organs from the damaging effects of the inflammation.
How serious is it?
“Low levels of correctly folded A1AT in the lungs result in the development of emphysema in almost everyone with AATD.
At the same time, the accumulation of Z-A1AT polymers in the liver can cause liver disease, sometimes manifesting as liver failure in newborns and, more commonly, cirrhosis and liver cancer as carriers of this age of mutation. “
¿How could we improve this situation?
“Up to a third of all cases of emphysema and cirrhosis could trace the origin of their disease if they knew about this alteration in their DNA.
A plasma analysis will help you identify this deficiency, this is the proof that science continues to advance until the cure for this rare disease can be discovered.
For the moment we continue to mitigate its effects, thanks to the discoveries of medicine.