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Apoptosis is increased in cortical neurons of female Marfan Syndrome mice
Mitra Esfandiarei1,2,3, Faizan Anwar1, Manogna Nuthi1
1Department of Biomedical Sciences, Midwestern University, Glendale, AZ, USA.
Abstract:
Marfan Syndrome (MFS) is an autosomal dominant genetic disorder that affects connective tissue throughout the body due to mutations in the FBN1 gene. Individuals with MFS display symptoms in different organs, particularly in the vasculature, but the mechanisms of this multi-system dysfunction are still under investigation. There is still a gap in our understanding of the impact of monogenic connective tissue aberrations on the brain. This study aims to determine the impact of MFS on neurodegeneration, in cortical brain tissue of male and female MFS mice. Brain tissue of 6-month-old female and male mice with the FBN1 C1041G/+ mutation and wildtype litter mates was collected and stained for active caspase-3 (ac3), brain derived neurotrophic factor (BDNF), and neuronal nuclei (NeuN) or with TUNEL and DAPI. Data revealed increased levels of ac3 in neurons within the sensory and motor cortical areas of female MFS mice compared to sex- and age-matched controls. We confirm increased levels of apoptosis in MFS mice using TUNEL staining within the same brain areas. We also report increased levels of neuronal BDNF levels in cortical brain tissue of male and female MFS mice. These results indicate a heightened susceptibility for neurodegeneration in the mouse model of MFS.
Insights
Marfan Syndrome (MFS) shows increased neurodegeneration in mice. This study found heightened apoptosis and specific protein changes in the brains of MFS mice, indicating greater susceptibility to brain damage.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- Marfan Syndrome (MFS) is an autosomal dominant genetic disorder caused by FBN1 gene mutations, affecting connective tissue.
- MFS impacts multiple organs, particularly vasculature, but its effect on the brain remains under-investigated.
- Understanding monogenic connective tissue disorders' impact on neurodegeneration is crucial.
Purpose of the Study:
- To investigate the impact of Marfan Syndrome on neurodegeneration in the cerebral cortex of male and female mice.
- To analyze markers of apoptosis and neuronal health in a mouse model of MFS.
Main Methods:
- Collected cortical brain tissue from 6-month-old male and female MFS mice (FBN1 mutation) and wildtype littermates.
- Utilized staining techniques including active caspase-3 (ac3), brain-derived neurotrophic factor (BDNF), neuronal nuclei (NeuN), TUNEL, and DAPI.
- Compared protein levels and apoptosis markers between MFS and control groups.
Main Results:
- Elevated levels of active caspase-3 (ac3) were observed in sensory and motor cortical neurons of female MFS mice.
- Increased apoptosis was confirmed in MFS mice cortical tissue via TUNEL staining.
- Higher levels of neuronal BDNF were detected in both male and female MFS mice cortical tissue.
Conclusions:
- The study indicates a heightened susceptibility to neurodegeneration in the MFS mouse model.
- Findings suggest potential mechanisms for MFS-related neurological complications.
- Further research is warranted to explore therapeutic strategies for neuroprotection in Marfan Syndrome.
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