Leukoencephalopathy in MNGIE does not regress after transplantation. What factors contribute to its onset, and are there potential therapeutic strategies to address it?
The gut-brain axis is a complex bidirectional communication system between the central nervous system and the gastrointestinal tract, mediated by neural, immune, endocrine, and metabolic signals. This axis is intricately linked to microvascularization, influencing the regulation of intestinal homeostasis, systemic inflammation, and neuronal function.
Follow-up in transplant patients has revealed that some alterations, such as malabsorption, gastrointestinal bleeding (even fatal), and leukoencephalopathy (fluid accumulation in the white matter due to altered blood-brain barrier regulation and potential fluid drainage deficits), do not regress after enzyme replacement therapy. Our studies have shown that MNGIE is a vasculopathy, suggesting that additional factors may contribute to its pathophysiology.
Therefore, our study aims to explore the relationship between the gut-brain axis and microvascularization in MNGIE, with the goal of clarifying the mechanisms that lead to leukoencephalopathy and identifying potential therapeutic targets before it becomes clinically manifest.
