A study has revealed that removing a disease-related gene may reverse a deadly form of metabolic liver disorder in experimental animals, and a one-time treatment is enough. The approach used by the researchers is described as metabolic pathway reprogramming.
Hereditary tyrosinaemia type I (HT-I) is a liver disease that is caused by a deficiency in fumarylacetoacetate hydrolase (FAH), which is an enzyme that is important for the breakdown of the animo acid tyrosine. HT-I is characterized by elevated blood levels of tyrosine, and it can lead to liver and kidney failure, and an increased risk of liver cancer.
In the study, the research team deleted a section of DNA from the Hpd gene through CRISPR/Cas9 editing. The liver cells that were edited displayed a growth advantage over those non-edited, and almost completely replaced them within several weeks. This eventually changed tyrosine catabolism, leaving treated mice healthy and asymptomatic.