Genetic Basis For Some Birth Defects Uncovered Science Daily (press release) - Nov 11, 2008 "Given Dr. Watanabe's findings, we determined that we had in fact developed animal models that mimicked the human deletion syndrome," said Landreth. ...
Living with cancer Selma Enterprise, CA - Nov 26, 2008 And although it can't be scientifically determined, the gene deletion was probably passed down to Nazario and his siblings from their mother. ...
Submicroscopic deletions of 11q24-25 in individuals without ... 7thSpace Interactive (press release), NY - Nov 10, 2008 Jacobsen syndrome is a rare contiguous gene disorder that results from a terminal deletion of the long arm of chromosome 11. It is typically characterized ...
Gene Mutation May Cause Immature Lungs In Newborns Medical News Today (press release), UK - Nov 25, 2008 Deletion of the gene did, however, inhibit anatomic and biochemical maturation of the lung, where air sacs did not fully form and surfactant production was ...
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A Functional Genetic Link between Distinct Developmental Language ... New England Journal of Medicine (subscription), MA - Nov 5, 2008 34 Furthermore, the gene is disrupted in a family with Tourette's syndrome, 36 and a rare point mutation causes a severe recessive disorder involving ...
Gene behind several birth defects uncovered Entertainment and Showbiz!, India - Nov 16, 2008 ?Given Dr. Watanabe?s findings, we determined that we had in fact developed animal models that mimicked the human deletion syndrome. ...
DNA: Too Much--or Too Little--Can Be a Bad Thing Science Now, DC - Nov 14, 2008 By Jennifer Couzin PHILADELPHIA, PENNSYLVANIA--There's more variety to DNA than you might think: Deletions or additions of genetic material between ...
UPI NewsTrack Health and Science News United Press International - Nov 12, 2008 "Given Dr. Watanabe's findings, we determined that we had in fact developed animal models that mimicked the human deletion syndrome," said Landreth. ...
Protein S deficiency: a clinical perspective National Alliance for Thrombosis and Thrombophilia (press release), NY - Nov 16, 2008 Links Johansson AM, Hillarp A, S?ll T, Z?ller B, Dahlb?ck B, Halld?n C. Large deletions of the PROS1 gene in a large fraction of mutation-negative patients ...
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Recent News and Articles on the Keywords: teens + deletion + role Related to the article below (Last Update: 8/7/2008)
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A community presence Palm Beach Post, United States - Aug 5, 2008 If you post offensive comments, we will delete them as soon as we can. If you see such comments, please report them to us.
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Teens with deletion syndrome confirm role of COMT gene in schizophrenia
A study in youth who are missing part of a chromosome is further implicating a suspect gene in schizophrenia.
Youth with this genetic chromosomal deletion syndrome already had a nearly 30-fold higher-than-normal risk of schizophrenia, but those who also had one of two common versions of the suspect gene had worse symptoms.
They were more prone to cognitive decline, psychosis and frontal lobe tissue loss by late adolescence, when schizophrenia symptoms begin to emerge, found the study.
The gene version appeared to worsen symptoms of the deletion syndrome by chronically boosting the chemical messenger dopamine to excessive levels in the brain's executive hub, the prefrontal cortex, during development.
The study is the first to show the long-term effects of the dopamine-regulating gene in a disorder related to schizophrenia, say Allan Reiss, Doron Gothelf, Stanford University, and colleagues at the University of Geneva, who report on their findings in the Nature Neuroscience.
" It's not that there's a good or bad version of this gene," explained NIMH director Thomas Insel. " Either version can be an accomplice, via interactions with other genes and environmental factors, in creating a dopamine imbalance that disturbs information processing. In this case, one version conspired with a rare mutation to produce too much dopamine. In other cases, the other version may tip the balance in the opposite direction."
Antipsychotic drugs used to treat schizophrenia work, in part, by correcting a dopamine imbalance in the prefrontal cortex, seat of motivation, learning in response to reward, and working memory -- functions impaired in schizophrenia. Previous studies have found – and the current study confirms – that optimal cognitive functioning depends on a "narrow window" of dopamine activity there, note the researchers.
While most people inherit two copies of the gene for the enzyme that breaks down dopamine, one in 4000 children are born with just one copy of the catecho-O-methyltransferase ( COMT ) gene. The gene is located in the tiny part of chromosome 22 that is partly missing in the 22q11.2 deletion syndrome, also known as the velocardiofacial syndrome. A mutation causes a variable array of problems, including cleft palate, heart defects and cognitive deficits.
Since about 30 percent of people with the chromosomal deletion syndrome also develop schizophrenia or related psychotic disorders – compared to only one percent of the general population – Reiss and colleagues suspected that people with the syndrome may hold unique clues about how the COMT gene influences development of the mental disorder.
A variation in the COMT gene's sequence results in two common versions: val and met – one version produces an enzyme that has the amino acid valine in the same position as the other has a methionine. The val version results in stronger COMT enzyme activity. For example, people who inherit two copies of val have 40 percent higher prefrontal cortex enzyme activity, resulting in more rapid chemical breakdown and markedly lower dopamine levels than people with two copies of met.
In some studies, val has been associated with slightly increased risk for schizophrenia, but evidence now suggests that either version can potentially increase risk, depending on how prefrontal dopamine is affected by interactions with other genes and environmental events. Since people with the deletion syndrome carry only one copy of the COMT gene, their enzyme activity is already compromised. If that copy is a met, its weak enzyme action would likely expose their developing brains to excessive, potentially damaging prefrontal dopamine levels, with attendant adverse consequences, hypothesized the researchers at Stanford's Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences.
To find out, they followed 24 subjects with the deletion syndrome and 23 matched control subjects with developmental disabilities. When first tested in childhood, subjects with the syndrome and met did not suffer from psychotic disorders and performed cognitive tasks as well or better than subjects with val. Yet, when they were re-tested in late adolescence/early adulthood, seven ( 29.2 percent ) subjects with the syndrome had developed schizophrenia or other psychotic disorders, compared to only one from the developmental disabilities group. The syndrome group showed significant declines in tests of verbal IQ, and expressive language. Subjects with met showed more robust decreases on these measures, as well as more severe psychotic symptoms, and more loss of prefrontal cortical gray matter volume than subjects with val.
The researchers propose that dopamine increases that normally occur during adolescence are further boosted in syndrome-affected teens with met, leading to "reduced efficiency of cognitive processing" during adolescence.
Reiss and colleagues say their results fit a pattern seen in NIMH studies in which the relationship between prefrontal cortex function and dopamine levels are modeled on an inverted "U"-shaped curve, the top of which represents optimal cognitive functioning. In this case, the double jeopardy of having the deletion syndrome and met would shift subjects' functioning well to the right, onto the down slope of the inverted "U" curve. Much like dialing-in a radio station, dopamine levels need to be precisely tuned – not too much or too little – to maximize the signal and minimize the noise, so that the prefrontal cortex can efficiently process information. In this case, it is as if the dial is turned too far clockwise, tuning-in too much static and not enough of the station's signal.
The Stanford researchers suggest that other genes in the deletion area likely also play a role in the development of psychotic and cognitive symptoms.
