The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells

Cystinosis is a debilitating, potentially fatal, inherited metabolic disease. The major genetic defect is a large (57-kb) deletion on chromosome 17 that removes the majority of a cystine transporter gene (CTNS). To find other genes that may also play a role in cystinosis, we collected blood cells from cystinosis families and examined the level of all genes in these cells. We found a striking decrease in the level of the TRPV1 gene in those patients with cystinosis that are homozygous for the 57-kb deletion compared to unaffected controls. This observation was particularly interesting because the TRPV1 gene is also located on chromosome 17, close to CTNS.  Thus, the 57-kb deletion also affects the TRPV1 gene. Given the myriad of functions that TRPV1 plays in the body, including pain transmission and body temperature regulation, future research will focus on the consequences of altered activity of this sensory receptor. (By Katy Freed PhD, http://jmg.bmj.com/content/early/2011/05/05/jmg.2010.083303.abstract?papetoc )