Scientists Identify Gene That Doubles Schizophrenia Risk

by Sheela Philomena on? August 07, 2013 at 11:46 AM Genetics & Stem Cells News Wellcome Trust Sanger Institute scientists have identified a new gene that doubles the risk of schizophrenia.
A team of researchers from the Wellcome Trust Sanger Institute, the Broad Institute of MIT and Harvard and the Institute for Molecular Medicine Finland, found that a disruption of the gene TOP3B, an exceedingly rare occurrence in most parts of the world, is fairly common in a uniquely genetically distinct founder population from North-eastern Finland.

Furthermore, the biochemical investigation of the protein encoded by the TOP3B gene allowed the researchers to gain first insight into the cellular processes that might be disturbed in the affected individuals.

The team identified a rare genetic deletion affecting TOP3B in the North-eastern Finnish population that increases a person's susceptibility to schizophrenia two-fold and that also is associated with an increased frequency of other disorders of brain development such as intellectual impairment. They speculate that this deletion directly disrupts the TOP3B gene to cause its effects on the brain.

Having identified the link between TOP3B and schizophrenia, the researchers sought to understand why disrupting this gene might increase susceptibility to disease, and for this purpose they investigated the function of the protein that it encodes.

TOP3B encodes a type of protein that typically helps the cell to unwind and wind DNA helices - essential to normal cell function. Quite unexpectedly for an enzyme of this class, however, TOP3B was found to act on messenger-RNA rather than DNA.

In their further biochemical investigation into TOP3B, the team found that the TOP3B protein interacts with a protein known as FMRP. The deactivation or disruption of this protein is responsible for Fragile X syndrome, a disorder associated with autism and learning difficulties, primarily in men.

Source-ANI

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Scientists Identify Gene That Doubles Schizophrenia Risk

by Sheela Philomena on? August 07, 2013 at 11:46 AM Genetics & Stem Cells News Wellcome Trust Sanger Institute scientists have identified a new gene that doubles the risk of schizophrenia.
A team of researchers from the Wellcome Trust Sanger Institute, the Broad Institute of MIT and Harvard and the Institute for Molecular Medicine Finland, found that a disruption of the gene TOP3B, an exceedingly rare occurrence in most parts of the world, is fairly common in a uniquely genetically distinct founder population from North-eastern Finland.

Furthermore, the biochemical investigation of the protein encoded by the TOP3B gene allowed the researchers to gain first insight into the cellular processes that might be disturbed in the affected individuals.

The team identified a rare genetic deletion affecting TOP3B in the North-eastern Finnish population that increases a person's susceptibility to schizophrenia two-fold and that also is associated with an increased frequency of other disorders of brain development such as intellectual impairment. They speculate that this deletion directly disrupts the TOP3B gene to cause its effects on the brain.

Having identified the link between TOP3B and schizophrenia, the researchers sought to understand why disrupting this gene might increase susceptibility to disease, and for this purpose they investigated the function of the protein that it encodes.

TOP3B encodes a type of protein that typically helps the cell to unwind and wind DNA helices - essential to normal cell function. Quite unexpectedly for an enzyme of this class, however, TOP3B was found to act on messenger-RNA rather than DNA.

In their further biochemical investigation into TOP3B, the team found that the TOP3B protein interacts with a protein known as FMRP. The deactivation or disruption of this protein is responsible for Fragile X syndrome, a disorder associated with autism and learning difficulties, primarily in men.

Source-ANI

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British Scientists Develop New Screening Test to Identify Postnatal Depression Risk

Changes in estrogen levels during pregnancy make women more sensitive to the stress hormone cortisol. Soon after the baby is born, the estrogen levels return to normal. However, women with these genetic variations are unable to do so, leading to postnatal depression.

Postnatal depression is a type of depression some women experience after they have had a baby. It usually develops in the first four to six weeks after childbirth, but in some cases, it may take months to develop.

Postnatal depression is not the same as 'baby blues' which is a mild type of depression that occurs after childbirth and lasting from a few hours to a few days. During this time, the new mother may feel tearful and irritable, but no medical treatment is needed since in milder forms it is considered normal. However, if it is more prolonged and severe, it can develop into postnatal depression.

Symptoms of postnatal depression include low mood, feeling unable to cope and difficulty with sleeping. Unfortunately, many women are not aware they have the condition. Sometimes, the new mother may feel very agitated or alternatively very apathetic or have feelings of guilt and self-blame. She may even be thinking about?harming self or the baby.

In view of this, the research is very important. 'There is evidence that if you can identify women at risk early, you could treat early or introduce measures to prevent or stop the process of the disease,' Grammatopoulos said.

Based on this research, Grammatopoulos and his team have developed the first ever blood test for postnatal depression which would allow women found to be at risk to receive treatment for the disease before they give birth.

Prof Grammatopoulos said he could test women for the genetic changes for between ?30 and ?40. But automating the test so that robots could screen large numbers of samples would bring the cost down to just ?10.

'Usually we focus on the mother, but the negative impact on the child is also immense,' Prof Grammatopoulos said. He is now looking for further genetic changes to increase the predictive power of the test.

Reference: http://www.journalofpsychiatricresearch.com/article
/S0022-3956%2813%2900143-X/abstract

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Scientists identify genetic risk for pulmonary fibrosis factor

Team, including doctors and scientists of the Faculty of the University of Colorado's watched medicine a fairly common variant of the mucin 5b gene, a protein that is a component of the produced by bronchial mucosa. This variant of the gene MUC5B is fairly common, pulmonary fibrosis is a disease rarely reported.

In a review of CT over 2 600 adults don't have a diagnosis of pulmonary fibrosis, the researchers found evidence of imaging of inflammation of the lungs and the scars in about 9% of the people over 50 years. In this age group, these abnormal results on computer tomography were significantly more common in people of 21 percent with the genetic variant of MUC5B.

What is important, final pulmonary fibrosis seen on CT scan has been strongly linked to the genetic variant of MUC5B. Although these anomalies do not necessarily indicate a disease that progresses, the presence of these abnormalities have been associated with more shortness of breath and cough as well as smaller lung sizes and capacity of oxygen transfer.

The results suggest that pulmonary fibrosis, which is a condition where the lung tissue becomes thickened, rigid and scarred, may be part of a syndrome less severe, much more common, but probably and could potentially be predicted on the basis of the genetic variant of MUC5B.

A paper describing the discovery was published recently in the New England Journal of Medicine.

Twenty-one authors share credit for the paper, including researchers from Brigham and Women hospital and Boston University.

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Scientists Identify Pathogens Associated With Paediatric Diarrhoeal Disease

by Sheela Philomena on? May 19, 2013 at 10:09 AM Child Health News Pathogens associated with moderate-to-severe diarrhoea in infants have been discovered by scientists. The Global Enteric Multicenter Study (GEMS) was designed to identify the aetiology and population-based burden of paediatric diarrhoeal disease in sub-Saharan Africa and south Asia.
It is a 3-year, prospective, age-stratified, matched case-control study of moderate-to-severe diarrhoea in children aged 0-59 months residing in censused populations at four sites in Africa and three in Asia.

The researchers said that recruited children with moderate-to-severe diarrhoea seeking care at health centres along with one to three randomly selected matched community control children without diarrhoea.

From patients with moderate-to-severe diarrhoea and controls, they said they obtained clinical and epidemiological data, anthropometric measurements, and a faecal sample to identify enteropathogens at enrolment.

One follow-up home visit was made about 60 days later to ascertain vital status, clinical outcome, and interval growth.

They enrolled 9439 children with moderate-to-severe diarrhoea and 13 129 control children without diarrhoea.

By analysing adjusted population attributable fractions, they found that most attributable cases of moderate-to-severe diarrhoea were due to four pathogens: rotavirus, Cryptosporidium, enterotoxigenic Escherichia coli producing heat-stable toxin (ST-ETEC; with or without co-expression of heat-labile enterotoxin), and Shigella.

Other pathogens were important in selected sites (eg, Aeromonas, Vibrio cholerae O1, Campylobacter jejuni).

They also found that odds of dying during follow-up were 8.5-fold higher in patients with moderate-to-severe diarrhoea than in controls.

Pathogens associated with increased risk of case death were ST-ETEC and typical enteropathogenic E coli in infants aged 0-11 months, and Cryptosporidium in toddlers aged 12-23 months.

The researchers noted that interventions targeting five pathogens (rotavirus, Shigella, ST-ETEC, Cryptosporidium, typical enteropathogenic E coli) could substantially reduce the burden of moderate-to-severe diarrhoea.

New methods and accelerated implementation of existing interventions (rotavirus vaccine and zinc) are needed to prevent disease and improve outcomes, they added.

The research was published in Lancet.

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