Although FMR1 protein reduction has been correlated with the increased grey matter proportion and changes on the cortical dendrites, 3D maps of these abnormalities have not yet produced (Lee et al. 925). Meanwhile, differences in grey matter volumes were also noted; 28% and 13% enlargements on grey matter volumes are respectively observed on males and females with full mutation cases (Lee et al. 925). In addition, in some studies, enlargement of hippocampus and thalamus were observed on affected males and females respectively (Lee et al. 925).
Further, the synaptic and dendritic pruning in the fragile X affected individuals were reported and postulated as the major cause of grey matter reduction in cortical and subcortical regions of the brain. Intensive review on these aberrations should be done to identify its widespread or localization by means of 3D assessment (Lee et al. 925). As such, three-dimensional visualization of the structural impairments in the brain can be possibly done through computational anatomy techniques.
In this connection, Lee et al. utilized tensor-based morphometry or TBM to profile the fragile X respondents’ structural brain aberrations through 3D images. Then, they correlated FMR1 protein measurements with abnormalities. Lee et al. tested four hypotheses which included volumetric enlargement of ventricular CSF, the enlargement extend of grey matter, the causes of FMR1 protein reduction, and FMR1 protein variation among females. Lastly, the results of conventional morphometric studies were compared with TBM results.
Methodology Thirty-six fragile X participants and 33 normal individuals were enlisted for the target group and control group respectively (Lee et al. 925). While the fragile X group was consisted of 18 males and 18 females with average age of 14. 66 years, the control group was comprised of 16 males and 17 females with average age of 14. 67 years (Lee et al. 925). The members of the Fragile X group were selected from the United States fragile X population and undergone confirmatory DNA diagnosis.
Then, PCR or polymerase chain reaction, standardized Southern blotting, and FMR1-specific probe hybridization were consecutively carried out (Lee et al. 925). As well, Immunostaining techniques were performed for the determination of FMR1 protein levels and identification of lymphocytes which contain FMR1 protein (Lee et al. 925). On the other hand, the scanned images with high resolution were generated by 1. 5T GE Sigma scanner (Lee et al. 925).
The brain structural differences were assessed by TMB techniques while Jacobian determinant was applied for the comparison and contrast of individual brain images and the common brain template (Lee et al. 925). Upon the analysis of the brain images, editing and refinement were done by appropriate software application and manual inspection (Lee et al. 925). After the pre-processing stages, statistical treatments were employed to quantify significant differences on the brain images of the fragile X group with respect to the control group (Lee et al. 927).
Correlations and t-test were also applied for the determination of significant relationship and differences on the observed brain features with respect to the attributes of the participants, and fragile X group as compared with the control group (Lee et al. 927). Specifically, the FMR1 protein concentration was correlated with the differences on the anatomical brain structures through Spearman’s rank test and protein level variances were analyzed (Lee et al. 928).