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

var xmlHttpvar imgpath,imagefunction RefreshImage(ImageId){image=document.getElementById(ImageId);//alert(ImageId);xmlHttp=GetXmlHttpObject();if (xmlHttp==null) { alert ("Your browser does not support AJAX!"); return; } var url="http://www.medindia.net/captcha/captcha.asp";url=url+"?x="+Math.random();imgpath=url;xmlHttp.onreadystatechange=stateChangedReg;xmlHttp.open("GET",url,true);xmlHttp.send(null);} function stateChangedReg(){if (xmlHttp.readyState==4){image.src = imgpath;}}function RequestCode(){xmlHttp=GetXmlHttpObject();if (xmlHttp==null) { alert ("Your browser does not support AJAX!"); return; } var url="http://www.medindia.net/captcha/reqimgvalue.asp";url=url+"?x="+Math.random();xmlHttp.onreadystatechange=stateChangedReq;xmlHttp.open("GET",url,true);xmlHttp.send(null);} function stateChangedReq(){if (xmlHttp.readyState==4){var seccode=xmlHttp.responseText;if(seccode==document.getElementById("scode").value){//alert(seccode + "same value");}else{document.getElementById("scode").value=xmlHttp.responseText;}}}function GetXmlHttpObject(){var xmlHttpNew=null;try { // Firefox, Opera 8.0+, Safari xmlHttpNew=new XMLHttpRequest(); }catch (e) { // Internet Explorer try { xmlHttpNew=new ActiveXObject("Msxml2.XMLHTTP"); } catch (e) { xmlHttpNew=new ActiveXObject("Microsoft.XMLHTTP"); } }return xmlHttpNew;}function GetXmlHttpObject(){var xmlHttp=null;try { // Firefox, Opera 8.0+, Safari xmlHttp=new XMLHttpRequest(); }catch (e) { // Internet Explorer try { xmlHttp=new ActiveXObject("Msxml2.XMLHTTP"); } catch (e) { xmlHttp=new ActiveXObject("Microsoft.XMLHTTP"); } }return xmlHttp;} function fnsearch(){day1 = document.search.SelDay.value;month1 = document.search.SelMonth.value;year1 = document.search.SelYear.value;tmpdate=month1+"/"+day1+"/"+year1 fromdate=new Date(year1,month1-1,day1)if (!((fromdate.getDate()==day1)&&(fromdate.getMonth()+1==month1)&&(fromdate.getFullYear()==year1))){alert("Please Select a valid Date")document.search.SelDay.focus();return false;}tmpcatid=document.search.ncategoryid.value;tmpkeyword=document.search.keyword.value;document.search.action="http://www.medindia.net/news/newsday_list.asp?ddate="+tmpdate+"&ncategoryid=" +tmpcatid +"&keyword=" +tmpkeywordreturn true;}News Categories:?? Latest Health News Popular News AIDS/HIV News Alcohol & Drug Abuse News Alternative Medicine News Anti-Aging News Bird Flu News Cancer News Celebrity Health News Chikungunya News Child Health News Cholesterol News Clinical Trials News Corporate News Dengue News Dental News Diabetes News Diet & Nutrition News Drug News Education News Environmental Health General News Genetics & Stem Cells News Health Insurance News Heart Disease News Hospital News Hypertension News Indian Health News Lifestyle News Medical Gadgets Medical PDA News Medico Legal News Men?s Health News Mental Health News News on IT in Healthcare Nursing Profession News Obesity News Organ Donation News Research News Respiratory Disease News Senior Health News Sexual Health News Tropical Disease News Weight Loss Women Health News

View the original article here

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

var xmlHttpvar imgpath,imagefunction RefreshImage(ImageId){image=document.getElementById(ImageId);//alert(ImageId);xmlHttp=GetXmlHttpObject();if (xmlHttp==null) { alert ("Your browser does not support AJAX!"); return; } var url="http://www.medindia.net/captcha/captcha.asp";url=url+"?x="+Math.random();imgpath=url;xmlHttp.onreadystatechange=stateChangedReg;xmlHttp.open("GET",url,true);xmlHttp.send(null);} function stateChangedReg(){if (xmlHttp.readyState==4){image.src = imgpath;}}function RequestCode(){xmlHttp=GetXmlHttpObject();if (xmlHttp==null) { alert ("Your browser does not support AJAX!"); return; } var url="http://www.medindia.net/captcha/reqimgvalue.asp";url=url+"?x="+Math.random();xmlHttp.onreadystatechange=stateChangedReq;xmlHttp.open("GET",url,true);xmlHttp.send(null);} function stateChangedReq(){if (xmlHttp.readyState==4){var seccode=xmlHttp.responseText;if(seccode==document.getElementById("scode").value){//alert(seccode + "same value");}else{document.getElementById("scode").value=xmlHttp.responseText;}}}function GetXmlHttpObject(){var xmlHttpNew=null;try { // Firefox, Opera 8.0+, Safari xmlHttpNew=new XMLHttpRequest(); }catch (e) { // Internet Explorer try { xmlHttpNew=new ActiveXObject("Msxml2.XMLHTTP"); } catch (e) { xmlHttpNew=new ActiveXObject("Microsoft.XMLHTTP"); } }return xmlHttpNew;}function GetXmlHttpObject(){var xmlHttp=null;try { // Firefox, Opera 8.0+, Safari xmlHttp=new XMLHttpRequest(); }catch (e) { // Internet Explorer try { xmlHttp=new ActiveXObject("Msxml2.XMLHTTP"); } catch (e) { xmlHttp=new ActiveXObject("Microsoft.XMLHTTP"); } }return xmlHttp;} function fnsearch(){day1 = document.search.SelDay.value;month1 = document.search.SelMonth.value;year1 = document.search.SelYear.value;tmpdate=month1+"/"+day1+"/"+year1 fromdate=new Date(year1,month1-1,day1)if (!((fromdate.getDate()==day1)&&(fromdate.getMonth()+1==month1)&&(fromdate.getFullYear()==year1))){alert("Please Select a valid Date")document.search.SelDay.focus();return false;}tmpcatid=document.search.ncategoryid.value;tmpkeyword=document.search.keyword.value;document.search.action="http://www.medindia.net/news/newsday_list.asp?ddate="+tmpdate+"&ncategoryid=" +tmpcatid +"&keyword=" +tmpkeywordreturn true;}News Categories:?? Latest Health News Popular News AIDS/HIV News Alcohol & Drug Abuse News Alternative Medicine News Anti-Aging News Bird Flu News Cancer News Celebrity Health News Chikungunya News Child Health News Cholesterol News Clinical Trials News Corporate News Dengue News Dental News Diabetes News Diet & Nutrition News Drug News Education News Environmental Health General News Genetics & Stem Cells News Health Insurance News Heart Disease News Hospital News Hypertension News Indian Health News Lifestyle News Medical Gadgets Medical PDA News Medico Legal News Men?s Health News Mental Health News News on IT in Healthcare Nursing Profession News Obesity News Organ Donation News Research News Respiratory Disease News Senior Health News Sexual Health News Tropical Disease News Weight Loss Women Health News

View the original article here

Study Says 'Cousin Marriage' Doubles Gene Risk for Babies

The city, which has a high proportion of South Asian immigrants and their descendants among its population, served as a microcosm for examining the risk of blood relative couplings.

About 37 percent of marriages among people of Pakistani origin in the study involved first cousins, compared to less than one percent of "British unions", said the researchers.

University of Leeds investigator Eamonn Sheridan led a team that pored over data from the "Born in Bradford" study, which tracks the health of 13,500 babies born at the city's main hospital between 2007 and 2011.

Out of 11,396 babies for whom family details were known, 18 percent were the offspring of first-cousin unions, mainly among people of Pakistani heritage.

A total of 386 babies -- three percent -- were born with anomalies ranging from problems in the nervous, respiratory and digestive systems, to urinary and genital defects and cleft palates.

This Bradford rate was nearly twice the national average, said the study.

Other factors blamed for genetic flaws, such as alcohol consumption, smoking and social deprivation, can be ruled out, it said.

"Thirty-one percent of all anomalies in children of Pakistani origin could be attributed to consanguinity" or marriage between first cousins, said the study.

The authors say theirs was the first study to delve into the causes of congenital abnormalities in a broad population.

Co-researcher Neil Small said that in absolute terms, the risk from consanguineous marriage was still small.

The study noted, in fact, that the risk was about the same as for older white British mothers -- an age deemed to be 34 years and above.

Even so, "sensitive advice (about) avoidable risks" should be disseminated to communities and couples in consanguineous unions, he said. The findings should also inform health professionals in antenatal care and genetic testing.

The paper said 90 infant deaths a year among Pakistani mothers in England and Wales could be attributed to congenital anomalies.

Consanguinity is a deeply rooted social phenomenon, The Lancet noted.

"More than one billion people worldwide currently (live) in communities where consanguineous marriages are commonplace."

Source-AFP

View the original article here