Marfan Syndrome and Its Impact on Brain Health: Inflammation and Neurological Risks

Recent research from the Institut de Neurociències at the Universitat Autònoma de Barcelona has revealed a concerning link between Marfan syndrome and increased neuroinflammation, which may elevate neurological risks. The study, published in erredox Biology, highlights that Marfan syndrome—a genetic disorder affecting connective tissue—does not only pose cardiovascular challenges but also impacts brain health.

Marfan syndrome affects approximately 1 in 5,000 individuals and is primarily known for complications involving the heart, blood vessels, eyes, and skeletal system. Weakening or dilation of the aorta can be life-threatening. However, the new findings suggest that the condition also predisposes the brain to inflammatory changes, increasing vulnerability to neurological diseases and complications after strokes.

Using a mouse model, researchers led by Professor Francesc Jiménez-Altayó analyzed the effects of Marfan syndrome on the brain's structure and function. They examined gene activity, inflammation biomarkers, blood vessel integrity, and the brain's response to ischemic events across different ages and sexes. Results showed that brain inflammation was present from early stages in mice with Marfan syndrome, particularly affecting gene expressions involved in inflammation and tissue repair.

Key disruptions involved the TGF-b signaling pathway, extracellular matrix turnover, and blood vessel health, with variations depending on sex and age. These alterations could help explain why individuals with Marfan syndrome are at a higher risk of neurological issues, even without overt cardiovascular problems.

The findings underscore the importance of monitoring neurological health in Marfan syndrome patients and suggest potential targets for personalized therapy. Recognizing neuroinflammation as part of the syndrome's spectrum may lead to improved preventative strategies and treatment outcomes for affected individuals.

The study's insights emphasize that Marfan syndrome's impact extends beyond the cardiovascular system, requiring a comprehensive approach to managing its neurological aspects.

Source: https://medicalxpress.com/news/2025-05-marfan-syndrome-linked-brain-inflammation.html