Marfan Syndrome Linked to Increased Brain Health Risks, Study Finds

⁢ Updated June 02, 2025
⁣‍ ⁢ ⁤

Individuals with Marfan syndrome may⁤ face ⁤a greater risk of neurological diseases and complications following strokes,⁤ according to research from the Institut de Neurociències of the Universitat Autònoma de Barcelona (INc-UAB).⁣ The⁤ study, using animal models, indicates that inflammation associated with Marfan syndrome significantly impacts brain ⁤health.

The findings, published in Redox Biology, suggest that this genetic disorder, affecting roughly⁣ 1 in 5,000 people, extends its reach beyond ‍cardiovascular issues to impact brain health. The research underscores that Marfan syndrome heightens the brain’s vulnerability to damage from reduced oxygen, such as during heart attacks or severe hemorrhages, and elevates the risk of⁢ subsequent neurological⁣ disorders. This highlights the importance⁣ of managing neurological risks in Marfan patients to improve treatment outcomes and prevent complications related to brain ⁢health.

Marfan syndrome impacts the body’s⁤ connective tissues, crucial for supporting organs and tissues. Those with the condition often experience problems with the heart, eyes, blood vessels, and skeleton. A weakened or dilated aorta can make ‍the condition life-threatening.

Professor Francesc Jiménez-Altayó, a researcher with the Department of Pharmacology, Therapeutics and Toxicology,‍ the INc-UAB, and the Cardiovascular Diseases Area‍ of the Biomedical Research Networking Center (CIBERCV), led the research team. Using a mouse model, they demonstrated ⁣that Marfan‍ syndrome elevates the risk of brain injury. The study also examined how sex and age influence this vulnerability, a key factor in understanding stroke‍ complications.

The team compared young and aged ‍male and female mice, both with and without Marfan syndrome. They analyzed⁣ gene activity using RNA sequencing and assessed biomarkers⁤ of inflammation and tissue health. Additionally, they studied the structure and function of cerebral⁤ blood vessels and evaluated the brain’s response to temporary blood flow interruption, a critical aspect‍ of Marfan syndrome.

The results showed significant⁢ changes in gene expression,particularly in young males⁤ and aged females,mainly involving⁢ proteins related to inflammation and tissue repair.⁤ marfan mice exhibited widespread brain ⁣inflammation from early stages of life, regardless of age or sex, indicating a persistent imbalance in ‍brain homeostasis. This persistent inflammation is a ⁢key factor in understanding the neurological risks associated⁢ with the ⁢condition.

The study revealed disruptions in the signaling of TGF-β (transforming growth factor beta), a key regulatory protein, along with alterations in extracellular matrix turnover and blood vessel integrity. These changes ⁢were influenced by ⁣both sex and ⁢age.

“These mechanisms may help explain why individuals with⁢ Marfan syndrome face ⁢a higher risk of developing neurological problems, even in the absence of overt⁢ cardiovascular events,” said Gemma Manich, lead author ⁢of the⁢ paper.

“The findings underscore the need for increased awareness of potential neurological risks in people living with⁢ Marfan syndrome. ‍At the same time, they point to possible targets for personalized treatment approaches based on age ⁣and sex,” ‍concluded Francesc Jiménez-Altayó.

What’s ⁣next

Future⁣ research will‍ focus on developing personalized treatment strategies⁢ based on age and sex to mitigate⁢ neurological risks in individuals with Marfan syndrome, potentially improving their overall brain health and quality of life.