Is the liver a target organ in MNGIE? Can an explanted liver be used for a "Domino Liver Transplant"?
Reintroducing stable TP activity represents the most effective strategy for permanently correcting the nucleoside imbalance that causes the cytotoxic and mitochondrial damage leading to premature death in MNGIE patients. Allogeneic hematopoietic stem cell transplantation (AHSCT) and liver transplantation (LT) have shown to improve both biochemical parameters and the clinical presentation of the disease.
Although the liver has not been identified as a target organ in MNGIE, explanted livers from affected patients exhibit significant macroscopic alterations. Therefore, it is essential to assess their microanatomical, molecular, and metabolic integrity for two main reasons:
To evaluate potential hepatic tissue alterations, as a compromised liver could impact the clinical response to targeted therapies.
To explore the possibility of domino liver transplantation, by determining whether an explanted liver from an MNGIE patient is microscopically normal and metabolically comparable to a control liver. In this scenario, a donor provides the liver to an MNGIE patient, who could then donate it to a patient unaffected by the disease. Since the second recipient does not carry mutations in TP in other organs, they would not experience the consequences of TP deficiency in the transplanted liver.
The goal of our study is to provide a thorough analysis of liver morphology, molecular structure, and metabolism in MNGIE patients.
