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Thread: Study: SLITRK1 gene linked to Tourette's Syndrome

  1. #1
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    Default Study: SLITRK1 gene linked to Tourette's Syndrome

    Researchears at Yale School of Medicine and their colleagues have identified a gene called SLITRK1 that appears to contribute to some cases of Tourette's Syndrome.

    The study is published in the journal Science. 14Oct2005

    " We now have rare mutations, expression and functional data, all supporting a role for this gene in Tourette's Syndrome," said senior author Matthew State, at Yale." This finding could provide an important clue in understanding Tourette's on a molecular and cellular level. Confirming this, in even a small number of additional Tourette's Syndrome patients, will pave the way for a deeper understanding of the disease process."

    Tourette's Syndrome is a relatively common neurological disorder characterized by tics--involuntary, rapid, sudden movements or vocalizations that occur repeatedly in the same way.
    It affects as many as one out of 100 school age children. The tics begin in mid-childhood and peak at the start of adolescence.
    Tourette's Syndrome is not life threatening, but affected children commonly have other neuropsychiatric disorders including ADHD, obsessive-compulsive disorder or depression.
    State said Tourette's Syndrome patients swearing uncontrollably is actually uncommon, with only a small percentage of Tourette's Syndrome patients ever having this symptom.

    For years, many researchers sought a single, abnormal gene for Tourette's Syndrome.
    Since none was found, it was concluded that multiple genes either cause or contribute to the disorder. While many researchers looked for genetic similarities among large groups of Tourette's Syndrome patients, State and his team took the opposite approach pioneered by co-author and Yale's Chair of Genetics, Richard Lifton, of searching for unusual patients with Tourette's Syndrome. With help from the Tourette Syndrome Association, they found such a case in which a child had Tourette's Syndrome and carried a chromosomal abnormality.

    Working with Yale neurobiologists and co-authors Nenad Sestan and Angeliki Louvi, the team used molecular methods to identify differences in that child's DNA.
    In particular, they found one gene expressed in the brain near the chromosomal break point.
    They compared the gene to a wider Tourette's Syndrome population of 174 people.
    The team found an abnormal DNA sequence in one family and the identical, very rare change in the DNA sequence in two unrelated people. This second finding was in a non-coding region of the gene that does not directly make protein.

    A lead author on the study, Kenneth Kwan made the key observation that this segment of the gene was likely to be involved in gene regulation through the interaction with small molecules called microRNAs. In a series of experiments, the research team found that this was indeed the case.

    [size=9px]Source: Yale University, 2005[/size]

  2. #2
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    Default Study: SLITRK1 gene linked to Tourette's Syndrome

    • Abstract in connection with this article

    Science 14 October 2005:
    Vol. 310. no. 5746, pp. 317 - 320
    DOI: 10.1126/science.1116502
    Prev | Table of Contents | Next

    Reports
    Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome
    Jesse F. Abelson,1,2* Kenneth Y. Kwan,3,4* Brian J. O'Roak,2* Danielle Y. Baek,1,2 Althea A. Stillman,2 Thomas M. Morgan,2 Carol A. Mathews,8 David L. Pauls,9 Mladen-Roko Rain,3 Murat Gunel,5 Nicole R. Davis,1,2 A. Gulhan Ercan-Sencicek,1,2 Danielle H. Guez,2 John A. Spertus,10 James F. Leckman,1 Leon S. Dure, IV,11 Roger Kurlan,12 Harvey S. Singer,13 Donald L. Gilbert,14 Anita Farhi,7 Angeliki Louvi,5 Richard P. Lifton,2,6,7 Nenad estan,3,4 Matthew W. State1,2,4,6

    Tourette's syndrome (TS) is a genetically influenced developmental neuropsychiatric disorder characterized by chronic vocal and motor tics. We studied Slit and Trk-like 1 (SLITRK1) as a candidate gene on chromosome 13q31.1 because of its proximity to a de novo chromosomal inversion in a child with TS. Among 174 unrelated probands, we identified a frameshift mutation and two independent occurrences of the identical variant in the binding site for microRNA hsa-miR-189. These variants were absent from 3600 control chromosomes. SLITRK1 mRNA and hsa-miR-189 showed an overlapping expression pattern in brain regions previously implicated in TS. Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS.

    1 Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA.
    2 Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.
    3 Department of Neurobiology, Yale University School of Medicine, New Haven, CT 06520, USA.
    4 Interdepartmental Neuroscience Program, Yale University School of Medicine, New Haven, CT 06520, USA.
    5 Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06520, USA.
    6 Center for Human Genetics and Genomics, Yale University School of Medicine, New Haven, CT 06520, USA.
    7 Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06520, USA.
    8 Department of Psychiatry, University of California?San Diego, San Diego, CA 92093, USA.
    9 Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
    10 Department of Medicine, University of Missouri?Kansas City, Kansas City, MO 64111, USA.
    11 Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
    12 Department of Neurology, University of Rochester School of Medicine, Rochester, NY 14642, USA.
    13 Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
    14 Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

    * These authors contributed equally to this work.

    To whom correspondence should be addressed. E-mail: matthew.state@yale.edu

  3. #3
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    Default Study: SLITRK1 gene linked to Tourette's Syndrome

    Steve:

    This is great information! I wonder if I'll live to see a gene exam that is inexpensive and wide-spread. They can put them on the shelf next to pregnancy tests. Big T means Tourette gene is present, little t means it is not. :-)

    Did you copy and paste? There is a neurologist named Byron J. O'Rourke, and there is an O'Roak listed in this article. Any chance it is the same guy? O'Rourke wrote a really great book on neurology, from "this is a brain, this is a spine" all the way down - that book taught me a lot.

    This list of doctors is impressive. Harvey Singer! Roger Kurlan! These are well known TS names. I think I met Dr. Kurlan once, but I'm not 100% sure. I also seem to remember going to a lecture of Dr. Singer's at Emory Univ. here in the ATL. If they were willing to put their names on the study, that is good news!
    Darin M. Bush, The Tourette Tiger, author of "Tiger Trails"
    http://www.facebook.com/tourettetiger

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