The human trial begins, of the treatment that acts on the liver, due to the protein Alpha-1 Antitrypsin.
Almost all cases of AATD are caused by a single mutation in the A1AT gene, known as the ‘Z mutation’.
Z Factor, the Cambridge-based drug development company, has administered the first human volunteer ZF874, their novel treatment for alpha-1-antitrypsin deficiency. (AATD).
What about Alpha 1 protein?
AATD, a genetic disorder, is the lack of a protein made by the liver that is released into the bloodstream. Alpha-1 protein is designed to protect body tissues from attacks by its own enzymes.
AATD affects approximately one in 2,000 people in Western countries, where a single flaw in the DNA encoding the alpha-1-antitrypsin (A1AT) protein causes both liver and lung disease.
Causes of the problem
“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 damaging effects. of inflammation.
“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. “