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In Vivo Phenotypic Vascular Dysfunction Extends Beyond the Aorta in a Mouse Model for Fibrillin-1 ( FBN1 ) Mutation
Biorxiv : the Preprint Server for Biology
|November 28, 2023
Summary
Marfan syndrome (MFS) caused by FBN1 mutations accelerates vascular aging, particularly in males. This study reveals sex-dependent changes in central and cerebral arteries, mimicking natural aging in MFS mice.
Area of Science:
- Cardiovascular Biology
- Genetics
- Vascular Biology
Background:
- Marfan syndrome (MFS), caused by fibrillin-1 gene (FBN1) mutations, leads to vascular dysfunction and aortic aneurysms.
- The MFS mouse model exhibits accelerated aging in elastic organs, but sex-specific vascular impacts remain unclear.
Approach:
- Investigated sex-dependent alterations in central and cerebral vascular function in 6-month-old male and female MFS and control mice.
- Utilized in vivo ultrasound imaging and compared findings with sex-matched 12-month-old healthy controls.
Key Points:
- MFS mice showed aortic enlargement and stiffness, more pronounced in males.
- Male MFS mice exhibited reduced posterior cerebral artery blood flow velocity compared to controls.
- Reduced mitral valve velocities and left ventricular hypertrophy were observed in MFS mice, highlighting sex-specific effects.
Conclusions:
- FBN1 mutations contribute to sex-dependent vascular dysfunction in MFS.
- MFS mice display a premature vascular aging phenotype, with males showing exacerbated effects.
- Biological sex is a critical factor in understanding MFS vascular pathology.
