title: Fragile X protein expression is linked to visual functions in healthy male volunteers.
abstract: Fragile X syndrome (FXS) is characterized by the impairment of the magnocellular/dorsal visual system. In this study, we explored how fragile X protein (FMRP) expression may affect visual functions in healthy participants. The percentage of FMRP-positive lymphocytes was measured using a rapid antibody test in blood smears of 100 male volunteers. CGG triplet expansion was also determined. Results revealed that participants with fewer FMRP-positive lymphocytes exhibited lower performances on tests biasing information processing toward the magnocellular pathway and dorsal visual stream (contrast sensitivity at low spatial/high temporal frequency and motion coherence). It was not observed in the case of tests biasing information processing toward the parvocellular pathway and ventral stream (contrast sensitivity at high spatial/low temporal frequency and form coherence). These results suggest that healthy persons with lower peripheral FMRP expression display a visual phenotype similar to that described in patients with FXS.
authors.affiliation: Department of Physiology, University of Szeged, Szeged, Hungary; National Psychiatry Center, Budapest, Hungary. szkeri@phys.szote.u-szeged.hu
authors.forename: S
authors.initials: S
authors.lastname: Kéri
authors.forename: G
authors.initials: G
authors.lastname: Benedek
mesh_terms: D000293:Adolescent; D000328:Adult; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000096:biosynthesis*; D005600:Fragile X Syndrome / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D019680:Trinucleotide Repeat Expansion; D014795:Visual Pathways / Q000378:metabolism; D014796:Visual Perception / Q000502:physiology*; D055815:Young Adult
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human