PAX6, brain structure and function in human adults: advanced MRI in aniridia.

ABSTRACT:

Objective

PAX6 is a pleiotropic transcription factor essential for the development of several tissues including the eyes, central nervous system, and some endocrine glands. Recently it has also been shown to be important for the maintenance and functioning of corneal and pancreatic tissues in adults. We hypothesized that PAX6 is important for the maintenance of brain integrity in humans, and that adult heterozygotes may have abnormalities of cortical patterning analogous to those found in mouse models.

Methods

We used advanced magnetic resonance imaging techniques, including surface-based morphometry and region-of-interest analysis in adult humans heterozygously mutated for PAX6 mutations (n = 19 subjects and n = 21 controls). Using immunohistochemistry, we also studied PAX6

SUBMITTER: Yogarajah M 

PROVIDER: S-EPMC4863745 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature