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Thread: Scientists find autism has complex genetic roots

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    Administrator Islander's Avatar
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    Default Scientists find autism has complex genetic roots

    Wed Jun 9, 2010
    Kate Kelland

    (Reuters) - The world's largest genetic scan of people with autism in their families has found that many patients have their own unique pattern of genetic mutations, not necessarily inherited.

    The findings published in the journal Nature help confirm the strong role that genes play in autism, and also suggest that small genetic disruptions may begin in the parents' eggs and sperm.
    "Our research strongly suggests that this type of rare genetic variation is important and accounts for a significant portion of the genetic basis of autism," said Tony Monaco of the Wellcome Trust Center for Human Genetics at Oxford University, who helped lead the study.
    "By identifying the genetic causes of autism, we hope in the future to be able to improve the diagnosis and treatment of this condition which can affect children and their families so severely," he told reporters on a telephone briefing.
    Stephen Scherer of the Hospital for Sick Children in Toronto, Canada, said the results would "lead to a paradigm shift when it comes to understanding the root causes of autism."
    Scientists from 60 research institutions in 12 countries worked for three years on the Autism Genome Project.

    Autism is a complex and mysterious brain disorder usually first diagnosed in early childhood. It is characterized by difficulties in social interaction, communication, and understanding other people's emotions and behavior.
    Autism disorders are diagnosed in one in 110 children in the United States and affect four times as many boys as girls. In Britain, an estimated 133,500 children have autism, according to the National Autistic Society.
    The Autism Genome Project studied the genes of 996 people with autism and 1,287 without, all with European ancestry.
    The team found that people with autism tended to have more losses and duplications of whole chunks of DNA. These deletions or insertions are called copy number variants and can disrupt how genes work.


    People with autism had on average 19 percent of these genetic changes than those without the condition. The team also found that each autistic case had a different set of disturbances, although some of these affected genes with similar functions.
    "Here's where it gets tricky -- every child showed a different disturbance in a different gene," said Dr. Stanley Nelson from the University of California Los Angeles.
    Daniel Geschwind, also of UCLA, said the findings suggested that "tiny genetic errors may occur during formation of the parents' eggs and sperm," and these variations are copied into the child's DNA.
    "The autistic child is the first in their family to carry that variant. The parents do not have it," he said.
    The findings support an emerging consensus within the scientific community that autism is caused in part by many "rare variants," or genetic changes, which are found in less than one percent of the population as a whole.
    While each of these variants may only account for a small fraction of autism cases, together they are starting to account for a greater percentage of people with autism, the scientists said, and may give clues for possible future treatments.
    What the study does not answer is how the genetic changes occur. Genes can be altered by the environment and the age of the parents has been linked with autism in some studies.

    Some advocacy groups maintain that vaccines can cause autism, although many studies have ruled this out and a British researcher whose work gave the vaccine movement its impetus has had his study and medical license withdrawn.
    (Editing by Maggie Fox and Paul Casciato)

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    Default Re: Scientists find autism has complex genetic roots

    Sites for parents of autistic children:

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    Veteran Member DizzyIzzy's Avatar
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    Default Re: Scientists find autism has complex genetic roots

    What a crock.

    There is one thing they've found that virtually all people on the ASD spectrum have in common, and that's a defect in the metallothionine protein, which aids detoxification, and specifically metal detoxification. And what would happen theoretically if this is faulty - as it seems to be in most autistics - is a breakdown of several pathways in the liver and affecting the digestive system, immune system, and neurological pathways and brain, leading to symptoms identical to those seen in autism.

    However, just because this is faulty, doesn't mean autism automatically. You could theoretically have it faulty but live a pure life, so the metals and toxins wouldn't build up, and the person would lead a normal life. As has probably been happening for thousands of years up till now. But when you jab the crap out of them, surround them with pesticides and GMOs and toxic cleaning products and air pollution and whatever else, their system gets overloaded, they can't detoxify, and hello autism.

    Which would also point to vaccines definitely being a trigger, and it having biological AND environmental components, as many people believe it does.

    If it were a rare genetic problem, as the article suggests, 1 - the numbers of autistic people would be generally pretty steady, as happens with genetic disorders, not skyrocketing thousands-fold in just a few decades, 2 - it's obviously not so rare a problem if it were genetic anyway, given it's now at about 1 in 91 children in the western world, and 3 - there wouldn't be the scores of parents telling us their kids regressed into autism after a toxic trigger such as vaccines or pesticide exposure.

    Grrrr. This kind of thing annoys me.

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    Veteran Member DizzyIzzy's Avatar
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    Default Re: Scientists find autism has complex genetic roots

    Senior author in Nature autism-gene study fails to disclose funding by MMR manufacturer GlaxoSmithKline as a competing interest.
    By John Stone
    June 13, 2010

    Prof Stephen Scherer who is the senior author of the autism gene study launched in Nature last week holds the ‘GlaxoSmithKline-CIHR Pathfinder Chair in Genetics and Genomics at the Hospital for Sick Children and University of Toronto. The title used to be ‘GlaxoSmithKline-CIHR Endowed Chair”, GSK being one of the defendant companies in the UK MMR litigation.

    While this information was tucked away in the paper under acknowledgements it did not appear as a competing interest for Prof Scherer, and was not mentioned in the paper’s extensive media publicity. The study boasts a remarkable 176 authors, including Prof Sir Michael Rutter and Prof Eric Fombonne who have given evidence for the vaccine manufacturers, and the US Department of Justice in vaccine litigation, but the disclosures of competing interests amount to barely three lines and do not mention any of these things:

    “Competing Financial Interests: L.J. Bierut and J.P. Rice are inventors on the patent “Markers for Addiction” (US 20070258898) covering the use of certain SNPs in determining the diagnosis, prognosis and treatment of addiction. L.J. Bierut served as a consultant for Pfizer Inc. in 2008.”
    While Prof Scherer’s departmental colleague Dalila Pinto is listed as lead author of the paper Scherer is listed as ‘correspondence author’ and he identifies himself as ‘senior author’ in Kevin Leitch’s LeftBrain/RightBrain blog. The 176 authors undoubtedly escaped having to make more detailed disclosures of competing interest by publishing in Nature rather than one of the journals now signatory to the International Committee of Medical Journal Editors ‘Uniform Requirements for Manuscripts’. Under ICMJE rules it is hard to see how Prof Scherer could have failed to disclose the association with GSK as a competing interest, and this is serious issue for Nature.

    The extraordinary ballyhoo which has accompanied the publication of this study cannot hide the tenuous and inconclusive nature of its findings after decades of gene research into autism, or the reality of a continuing gravy train on a journey to nowhere. Of an earlier publication in 2007 Mark Blaxill wrote (HERE):

    “In summary, the AGPC findings provide the strongest support to date for the case to shift autism research resources away from deterministic heritability research and towards environmental investigations, including investigation of gene-environment interactions. Despite their weak evidence and unsupported claims, the study authors have not adequately faced the implications of three decades of failure in the gene transmission hypothesis of autism causation. Instead, they continue to promote new and speculative genetic research projects.

    “These authors are influenced by their institutional and commercial interests and their advocacy should be considered in that light. It is time to move on to more productive activities and focus research on the areas that can more rapidly help individuals with autism and prevent future cases through removal of environmental triggers.”
    And our children just go on suffering.

    John Stone is UK Editor for Age of Autism.
    Last edited by Islander; 06-13-10 at 08:57 AM.

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