USAL researchers identify a new genetic alteration that silently favours the development of hepatic diseases

The molecular basis of the disorder has also been identified. This will enable early diagnoses and effective treatments of this pathology, which is known as an ACOX2 deficiency”.

A cooperative research study carried out by Dr. José Juan García Marín of the University of Salamanca and Dr. Jesús Prieto Valtueña of the University of Navarra, both of whom pertain to the Liver and Digestive Diseases Networking Biomedical Research Centre (CIBEREHD), has been able to identify, in an apparently healthy adolescent, a new genetic alteration that affects normal liver function. Carriers of this mutation have higher hepatic fragility characterized by a greater predisposition to suffer adverse effects from exposure to agents that are normally eliminated through the liver, such as medicines, drugs, alcohol, and certain components of food. The clinical interest of this discovery, published in the prestigious Journal of Hepatology , is that it can go undetected during part of a person’s life with the risk of developing liver diseases such as cirrhosis or liver cancer. The study also identified the molecular basis of the disorder, which will now permit early diagnosis  and effective treatment of this pathology, now called an “ACOX2 deficiency”.

The members of this research group are linked to the  Master’s/PhD programmes in Physiopathology and Pharmacology.

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