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PAX6, brain structure and function in human adults: advanced MRI in aniridia
Mahinda Yogarajah1, Mar Matarin2, Christian Vollmar2
1Department of Clinical and Experimental Epilepsy UCL Institute of Neurology National Hospital for Neurology and Neurosurgery London WC1N 3BG United Kingdom; Present address: St George's University Hospitals NHS Foundation Trust London United Kingdom.
The transcription factor PAX6 is crucial for brain maintenance in adults. PAX6 mutations are linked to reduced cortical area and faster cognitive decline, suggesting a role in neurodegenerative diseases.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- PAX6 is a key transcription factor vital for the development of the eyes, central nervous system, and endocrine glands.
- PAX6 also plays a role in maintaining corneal and pancreatic tissues in adults.
- The role of PAX6 in adult human brain integrity and cortical patterning is not well understood.
Purpose of the Study:
- To investigate the role of PAX6 in the maintenance of adult human brain integrity.
- To examine cortical patterning abnormalities in adult heterozygotes with PAX6 mutations.
- To explore the correlation between PAX6 mutations, cortical changes, and cognitive function.
Main Methods:
- Advanced magnetic resonance imaging (MRI) techniques, including surface-based morphometry and region-of-interest analysis, were used in adult humans with PAX6 mutations and controls.
- Immunohistochemistry was employed to study PAX6 expression in adult human brain tissue from healthy subjects and epilepsy patients.
- Genotypic severity and its correlation with observed brain abnormalities were analyzed.
Main Results:
- Adults with PAX6 mutations showed significant reductions in frontoparietal cortical area compared to controls.
- A faster decline in frontoparietal cortex thickness with age was observed in subjects with PAX6 mutations, correlating with accelerated working memory decline.
- Increased PAX6-expressing cells were observed in response to acute injury in the adult human brain, indicating a role in brain repair.
Conclusions:
- PAX6 is essential for the maintenance and function of the adult human brain, mirroring its role in other tissues.
- PAX6 mutations are associated with structural brain abnormalities and cognitive deficits.
- These findings have significant implications for understanding and potentially treating neurodegenerative diseases.
