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|SAN FRANCISCO Sergio Rico World Cup Jersey , May 7 (Xinhua) -- A group of researchers hasidentified the first "high-confidence" risk gene for Tourettedisorder, also known as Tourette Syndrome, as well as three otherprobable risk genes.
Tourette disorder afflicts as many as one person in a hundredworldwide with potentially disabling symptoms including involuntarymotor and vocal tics. Treatments had only limited effectiveness, inpart because the genetics underlying the disorder have remainedlargely a mystery.
Published online in Neuron on May 3, the new findings are a stepforward in understanding the biology of the disorder and in thesearch for better treatments Sergio Ramos World Cup Jersey , said the researchers at theUniversity of California, San Francisco, Rutgers University,Massachusetts General Hospital, the University of Florida and YaleSchool of Medicineare.
The researchers used an approach that Matthew State Sergio Busquets World Cup Jersey , chair ofthe Department of Psychiatry at UCSF and a co-senior author on thepaper, and his colleagues have pioneered in studies of the geneticbasis of autism spectrum disorders.
They compared the protein-coding regions of the genomes ofchildren with Tourette disorder to the genomes of their parents toidentify so-called de novo variants, namely rare genetic mutationsthat are not inherited from parents, but rather occur spontaneouslyat conception. De novo variants often have stronger biologicaleffects than inherited variants passed from generation togeneration, said Jeremy Willsey Santi Cazorla World Cup Jersey , an assistant professor ofpsychiatry at UCSF and co-lead author of the paper.
"We study de novo variants even though they are rare becausethey generally have more extreme effects than inherited mutationsand can provide us much information about the underlying causes ofa disease," Willsey explained.
The team analyzed genomic data from 311 "trios" -- children withTourette disorder and their parents, most of whom were unaffectedby the disorder -- collected by the Tourette InternationalCollaborative Genetics group (TIC Genetics), and found strongevidence that de novo variants can play a significant role intriggering the disorder.
To be certain of what they were seeing, the team conducted areplication study in 173 trios from the Tourette Association ofAmerica International Consortium for Genetics (TAAICG) Pedro Rodriguez World Cup Jersey , and foundthe same results.
They then combined the genetic data from the TIC Genetics andTAAICG cohorts, and the resulting dataset allowed them to zero inon four genes expressed in the brain in which de novo variants weresignificantly associated with the disorder.
The analysis identified variants of the gene WWC1, also calledKIBRA, which is involved in brain development, memory Paco Alcacer World Cup Jersey , and thebrain's response to the hormone estrogen, as having a greater than90 percent probability of contributing to Tourette disorder. Threeother genes, FN1, CELSR3 and NIPBL were flagged as having at least70 percent probability of contributing to the disorder.
"These findings show that Tourette disorder has same pathforward, which means there is a very bright future forunderstanding genetics of the disorder Oscar de Marcos World Cup Jersey ," State was quoted as sayingin a news release from UCSF. "The very first study I did as ageneticist was of Tourette disorder, so this has been a 20-yearodyssey. It is deeply gratifying to see this long-term effortacross multiple sites and countries lead to real progress."Enditem
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