@article{ref1,
title="A single gene defect causing claustrophobia",
journal="Translational psychiatry",
year="2013",
author="El-Kordi, A. and Kästner, A. and Grube, S. and Klugmann, M. and Begemann, M. and Sperling, S. and Hammerschmidt, K. and Hammer, C. and Stepniak, B. and Patzig, J. and de Monasterio-Schrader, P. and Strenzke, N. and Flügge, G. and Werner, H. B. and Pawlak, R. and Nave, K-a and Ehrenreich, H.",
volume="3",
number="",
pages="e254-e254",
abstract="Claustrophobia, the well-known fear of being trapped in narrow/closed spaces, is often considered a conditioned response to traumatic experience. Surprisingly, we found that mutations affecting a single gene, encoding a stress-regulated neuronal protein, can cause claustrophobia. Gpm6a-deficient mice develop normally and lack obvious behavioral abnormalities. However, when mildly stressed by single-housing, these mice develop a striking claustrophobia-like phenotype, which is not inducible in wild-type controls, even by severe stress. The human GPM6A gene is located on chromosome 4q32-q34, a region linked to panic disorder. Sequence analysis of 115 claustrophobic and non-claustrophobic subjects identified nine variants in the noncoding region of the gene that are more frequent in affected individuals (P=0.028). One variant in the 3'untranslated region was linked to claustrophobia in two small pedigrees. This mutant mRNA is functional but cannot be silenced by neuronal miR124 derived itself from a stress-regulated transcript. We suggest that loosing dynamic regulation of neuronal GPM6A expression poses a genetic risk for claustrophobia.<p /> <p>Language: en</p>",
language="en",
issn="2158-3188",
doi="10.1038/tp.2013.28",
url="http://dx.doi.org/10.1038/tp.2013.28"
}