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Rare Mutation Linked To Autism Now Also Linked To Schizophrenia Risk

An international team of researchers led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has identified a mutation on human chromosome 16 that substantially increases risk for schizophrenia. The mutation in question is what scientists call a copy number variant (CNV). CNVs are areas of the genome where the number of copies of genes differs between individuals. The CNV is located in a region referred to by scientists as 16p11.2. By studying the genomes of 4, 551 patients and 6, 391 healthy individuals, Sebat's team has shown that having one extra copy of this region is associated with schizophrenia. The study appears online today ahead of print in the journal Nature Genetics.

New Schizophrenia Gene Prompts Researchers To Test Potential Drug Target

Johns Hopkins scientists report having used a commercially available drug to successfully "rescue" animal brain cells that they had intentionally damaged by manipulating a newly discovered gene that links susceptibility genes for schizophrenia and autism. The rescue, described as "surprisingly complete" by the researchers, was accomplished with rapamycin, a drug known to act on a protein called mTOR whose role involves the production of other proteins. The idea to test this drug's effectiveness at rescuing impaired nerve cells occurred to the team as a result of having discovered a new gene that appears to act in concert with two previously identified schizophrenia susceptibility genes, one of which is involved in the activation of the protein mTOR.

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Onset Of Schizophrenia Triggered By Faulty 'Wiring' In The Brain

A new study by researchers at the Institute of Psychiatry (IoP), King's College London has discovered abnormalities in the white matter of the brain that seem to be critical for the timing of schizophrenia. The study, led by Professor Phillip McGuire and Dr Sophia Frangou, has been published in this month's edition of the British Journal of Psychiatry. The white matter of the brain consists of nerve fibres that connect parts of the brain and help regulate behaviour. The normal brain develops in a back to front fashion, i.e. posterior regions mature first and the frontal lobes last. The research discovered that if there are very severe deficits in the white matter in these posterior (specifically parietal) regions, then schizophrenia develops early in adolescence.

Penn Researchers Reverse The Cognitive Impairment Caused By Sleep Deprivation

A research collaboration led by biologists and neuroscientists at the University of Pennsylvania has found a molecular pathway in the brain that is the cause of cognitive impairment due to sleep deprivation. Just as important, the team believes that the cognitive deficits caused by sleep deprivation, such as an inability to focus, learn or memorize, may be reversible by reducing the concentration of a specific enzyme that builds up in the hippocampus of the brain. It is known that sleep deprivation can have cognitive consequences, including learning and memory deficits, but the mechanisms by which sleep deprivation affects brain function remain unknown.

Forest Laboratories, Inc. And Gedeon Richter Announce Positive Results From A Phase IIb Study Of Cariprazine For The Treatment Of Schizophrenia

Forest Laboratories, Inc. (NYSE: FRX) and Gedeon Richter Plc announced positive top-line results from a Phase IIb clinical trial of the novel, investigational antipsychotic agent cariprazine for the treatment of acute exacerbation of schizophrenia. For the primary endpoint, the Positive and Negative Syndrome Scale (PANSS), the data showed that patients with schizophrenia treated with cariprazine experienced significant symptom improvement compared to placebo patients within the first week of treatment and at each subsequent time point studied. Based on this latest schizophrenia data, subject to a complete review of the full results, and the previously announced Phase II results in patients suffering from acute mania associated with bipolar I disorder, the companies intend to initiate Phase 3 trials for both indications in early 2010.

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Immune System Activated In Schizophrenia

Researchers at the Swedish medical university Karolinska Institutet have discovered that patients with recent-onset schizophrenia have higher levels of inflammatory substances in their brains. Their findings offer hope of being able to treat schizophrenia with drugs that affect the immune system. The causes of schizophrenia are largely unknown, and this hinders the development of effective treatments. One theory is that infections caught early on in life might increase the risk of developing schizophrenia, but to date any direct evidence of this has not been forthcoming. Scientists at Karolinska Institutet have now been able to analyse inflammatory substances in the spinal fluid of patients with schizophrenia, instead of, as in previous studies, in the blood.

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