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[evol-psych] Gene mutation causes mental retardation

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  • Ian Pitchford
    Tuesday August 31 6:09 PM ET http://dailynews.yahoo.com/h/nm/19990831/hl/int8_1.html Gene mutation causes mental retardation By Theresa Tamkins NEW YORK, Aug
    Message 1 of 1 , Aug 31, 1999
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      Tuesday August 31 6:09 PM ET
      http://dailynews.yahoo.com/h/nm/19990831/hl/int8_1.html
      Gene mutation causes mental retardation
      By Theresa Tamkins

      NEW YORK, Aug 31 (Reuters Health) -- A gene normally involved in immune system
      function can cause mental retardation when it is mutated, a new study suggests.

      The genetic mutation has so far been found to be the cause of mental
      retardation in at least six patients, and may be the cause of problems in
      people who have large deletions in the X chromosome, according to a report in
      September issue of Nature Genetics.

      The mutation, known as IL1RAPL, most commonly causes problems in men, who have
      only one X chromosome. Because women have two copies of the X chromosome, they
      have a ``good'' copy of the gene to take over if IL1RAPL is mutated, the
      researchers suggest.

      Normally, IL1RAPL makes a protein similar to one that plays a key role in the
      body's response to interleukin 1-beta, an immune system molecule that can cause
      fevers and is important in inflammation. The protein is found in high levels in
      certain areas of the brain, suggesting it may have a special role in the
      development of learning and memory.

      The study is the ``first reliable and unambiguous demonstration about the link
      between proteins of the immune system and cognitive functions,'' said senior
      investigator Dr. Jamel Chelly of INSERM Unite in Paris, France.

      Only a handful of genes have been directly linked to mental retardation, which
      can be caused by a complex number of factors or genetic problems, according to
      Chelly and colleagues.

      The finding may help in the diagnosis of mental retardation or in the genetic
      counseling of families who have mutations or deletions of the gene, according
      to Chelly.

      ``Also, I believe that our finding will open (a) new avenue for the development
      of therapeutic approaches,'' Chelly said. ''This aspect will require further
      investigations, but it is reasonable to think that it would be possible in the
      future to develop drugs that might have beneficial effect on some forms of
      mental retardation.''

      SOURCE: Nature Genetics 1999;23:25-30.
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