Comments on: Rare Genetic Mutations and Schizophrenia http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/ Family, Health, Home and Lifestyles Sat, 05 Dec 2009 09:05:02 -0500 http://wordpress.org/?v=2.8.4 hourly 1 By: Lia http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/comment-page-1/#comment-560148 Lia Wed, 23 Jul 2008 05:15:58 +0000 http://www.autismvox.com/rare-genetic-mutations-and-schizophrenia/#comment-560148 Schizophrenia and genetics? I am note sure that there is more than some particular 'sensibility' in the persons who become schizophrenic, maybe they are more 'affect-and-attention-pretending-persons'. I myself suffered before 1999 for 3 and a half years a 'delirious paranoid schizophrenia', but with the help of several years of an individual, more psychoanalytic and less cognitive psychotherapy I completely recovered now. Since half 2002 I don't take psychofarmakon any more. Since april '08 on the european WMHO-site ther has been made a very short article about my recovery under: http//www.euro.who.int/mentalhealth/topics/20080415_1 (= Lia's story), where under dr. Matt Muijen's commentary there are also the key factors in my recovery process. Within the end of 2008 my autobiographic story will also be publicated in the Netherlands. Schizophrenia and genetics? I am note sure that there is more than some particular ’sensibility’ in the persons who become schizophrenic, maybe they are more ‘affect-and-attention-pretending-persons’. I myself suffered before 1999 for 3 and a half years a ‘delirious paranoid schizophrenia’, but with the help of several years of an individual, more psychoanalytic and less cognitive psychotherapy I completely recovered now. Since half 2002 I don’t take psychofarmakon any more. Since april ‘08 on the european WMHO-site ther has been made a very short article about my recovery under: http//www.euro.who.int/mentalhealth/topics/20080415_1 (= Lia’s story), where under dr. Matt Muijen’s commentary there are also the key factors in my recovery process.
Within the end of 2008 my autobiographic story will also be publicated in the Netherlands.

]]> By: RAJ http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/comment-page-1/#comment-546196 RAJ Sat, 29 Mar 2008 12:15:51 +0000 http://www.autismvox.com/rare-genetic-mutations-and-schizophrenia/#comment-546196 Here is the article that explains how copy number variations in a single specific gene increases susceptability to infection after exposure to HIV: http://stke.sciencemag.org/cgi/content/abstract/sci;307/5714/1434 Here is the article that explains how copy number variations in a single specific gene increases susceptability to infection after exposure to HIV:

http://stke.sciencemag.org/cgi/content/abstract/sci;307/5714/1434

]]> By: RAJ http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/comment-page-1/#comment-548561 RAJ Sat, 29 Mar 2008 11:58:32 +0000 http://www.autismvox.com/rare-genetic-mutations-and-schizophrenia/#comment-548561 Harold Doherty asked: "Are you suggesting that environmental factors might also, in interaction, with genetic factors, cause conditions like autism, or in the example you used HIV"? The most informative condition where gene-environment interactions are well described is in Leprosy research. What I find to be most illuminating is the interaction between a strong genetic component and a strong environmental component reported in decades of genetic research in leprosy compared to decades of genetic research in autism. The genetic research in these two unrelated conditions are a mirror image of each other: http://www.nature.com/ng/journal/v27/n4/full/ng0401_439.html The casue of Leprosy, exposure to myobacterium laprae has been known for over a hundred years, but what has come to light more recently is just how strong the genetic component in leprosy actually is. Like autism, in leprosy there are high concordance rates in MZ twin ( 60 -85%) and a dramatic decline in concordance rates in DZ twin pairs ( 5-20%), indicating the presence of a strong genetic factor . Since Biblical times leprosy is known to cluster within families, like autism, and the sib risk ratio is the same as has been reported in autism. Heritability estimates or leprosy have been reported to be as high as 80% (again like autism). The etiology of leprosy can be considered the Gold Standard for a gene-environment interaction model and the mirror image of ecades of genetic in research in leprosy and autism should give any rational person pause in the interpretations given by autism genetic theorists about what twin studies, familial clustering and heritability estimates are telling us. Harold Doherty asked:
“Are you suggesting that environmental factors might also, in interaction, with genetic factors, cause conditions like autism, or in the example you used HIV”?

The most informative condition where gene-environment interactions are well described is in Leprosy research. What I find to be most illuminating is the interaction between a strong genetic component and a strong environmental component reported in decades of genetic research in leprosy compared to decades of genetic research in autism.

The genetic research in these two unrelated conditions are a mirror image of each other:

http://www.nature.com/ng/journal/v27/n4/full/ng0401_439.html

The casue of Leprosy, exposure to myobacterium laprae has been known for over a hundred years, but what has come to light more recently is just how strong the genetic component in leprosy actually is.

Like autism, in leprosy there are high concordance rates in MZ twin ( 60 -85%) and a dramatic decline in concordance rates in DZ twin pairs ( 5-20%), indicating the presence of a strong genetic factor .

Since Biblical times leprosy is known to cluster within families, like autism, and the sib risk ratio is the same as has been reported in autism. Heritability estimates or leprosy have been reported to be as high as 80% (again like autism).

The etiology of leprosy can be considered the Gold Standard for a gene-environment interaction model and the mirror image of ecades of genetic in research in leprosy and autism should give any rational person pause in the interpretations given by autism genetic theorists about what twin studies, familial clustering and heritability estimates are telling us.

]]> By: Saturday Sanity: Are You Ready For Some Football? http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/comment-page-1/#comment-548466 Saturday Sanity: Are You Ready For Some Football? Sat, 29 Mar 2008 04:07:12 +0000 http://www.autismvox.com/rare-genetic-mutations-and-schizophrenia/#comment-548466 [...] Vox’s Kristina Chew highlights a new study on rare genetic mutations and schizophrenia, but reminds us that “80-85% of people with schizophrenia do not have the [...] [...] Vox’s Kristina Chew highlights a new study on rare genetic mutations and schizophrenia, but reminds us that “80-85% of people with schizophrenia do not have the [...]

]]> By: Kristina Chew, PhD http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/comment-page-1/#comment-548449 Kristina Chew, PhD Sat, 29 Mar 2008 03:36:32 +0000 http://www.autismvox.com/rare-genetic-mutations-and-schizophrenia/#comment-548449 It's the <i>spontaneous (de novo)</i> aspect that seems to be arousing particular interest. Here's evolutionary biologist Olivia Judson on <a href="http://judson.blogs.nytimes.com/2008/03/11/stop-the-mutation/">mutants</a>. It’s the spontaneous (de novo) aspect that seems to be arousing particular interest. Here’s evolutionary biologist Olivia Judson on mutants.

]]> By: Harold L Doherty http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/comment-page-1/#comment-550421 Harold L Doherty Sat, 29 Mar 2008 00:33:34 +0000 http://www.autismvox.com/rare-genetic-mutations-and-schizophrenia/#comment-550421 RAJ Thank you for that very informative comment. Can you meant by "It was discovered that copy number variations found in a specific single gene can increase susceptability to contracted HIV after an exposure." Are you suggesting that environmental factors might also, in interaction, with genetic factors, cause conditions like autism, or in the example you used HIV? RAJ

Thank you for that very informative comment. Can you meant by “It was discovered that copy number variations found in a specific single gene can increase susceptability to contracted HIV after an exposure.”

Are you suggesting that environmental factors might also, in interaction, with genetic factors, cause conditions like autism, or in the example you used HIV?

]]> By: RAJ http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/comment-page-1/#comment-546102 RAJ Sat, 29 Mar 2008 00:16:16 +0000 http://www.autismvox.com/rare-genetic-mutations-and-schizophrenia/#comment-546102 Here is a review of the study: http://www.technologyreview.com/Biotech/19328/ Here is a review of the study:

http://www.technologyreview.com/Biotech/19328/

]]> By: RAJ http://www.blisstree.com/articles/rare-genetic-mutations-and-schizophrenia/comment-page-1/#comment-546098 RAJ Sat, 29 Mar 2008 00:10:03 +0000 http://www.autismvox.com/rare-genetic-mutations-and-schizophrenia/#comment-546098 The technology used by Cold Spring Harbor is relatively primitive to what is now available. The first most detailed examing of a single healthy middle aged man was published last year. The study took years and cost millions of dollars and should give pause to any tudies published by Cold Spring Harbor. The study reported: "His newly released genome, published today in the journal PLoS Biology, differs from both of the previous versions of the human genome (one from Celera, the other from the Human Genome Project) in that it details all of the DNA inherited from both mother and father. Known as a diploid genome, this allows scientists to better estimate the variability in the genetic code. (In a genome sequence generated from a conglomerate of different individuals, some variations are lost in the averaging.) Within the genome of 2.810 billion base pairs, scientists found 4.1 million variations among the chromosomes; 1.2 million of these were previously unknown. Of the variations, 3.2 million were single nucleotide polymorphisms, or SNPs, the most well-characterized type of variation, while nearly one million were other kinds of variants, including insertions, deletions, and duplications". Over four million variants genetic variants including a million that included insertions, deletions and duplications.... in a single healthy middle aged man. It will take many years before this technology can be used in genetic studies, until then everything should be taken with a grain of salt. Like all multifactorial conditions the puzzle is what do these variations do to 'cause' a disorder. The only known evidence for how a copy number variation causes a condition comes from AIDS research. It was discovered that copy number variations found in a specific single gene can increase susceptability to contracted HIV after an exposure. We are all genetic mutants. The technology used by Cold Spring Harbor is relatively primitive to what is now available. The first most detailed examing of a single healthy middle aged man was published last year. The study took years and cost millions of dollars and should give pause to any tudies published by Cold Spring Harbor.

The study reported:

“His newly released genome, published today in the journal PLoS Biology, differs from both of the previous versions of the human genome (one from Celera, the other from the Human Genome Project) in that it details all of the DNA inherited from both mother and father. Known as a diploid genome, this allows scientists to better estimate the variability in the genetic code. (In a genome sequence generated from a conglomerate of different individuals, some variations are lost in the averaging.) Within the genome of 2.810 billion base pairs, scientists found 4.1 million variations among the chromosomes; 1.2 million of these were previously unknown. Of the variations, 3.2 million were single nucleotide polymorphisms, or SNPs, the most well-characterized type of variation, while nearly one million were other kinds of variants, including insertions, deletions, and duplications”.

Over four million variants genetic variants including a million that included insertions, deletions and duplications…. in a single healthy middle aged man.

It will take many years before this technology can be used in genetic studies, until then everything should be taken with a grain of salt.

Like all multifactorial conditions the puzzle is what do these variations do to ’cause’ a disorder. The only known evidence for how a copy number variation causes a condition comes from AIDS research. It was discovered that copy number variations found in a specific single gene can increase susceptability to contracted HIV after an exposure.

We are all genetic mutants.

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