Navigation Links
Mutant gene causes epilepsy, intellectual disability in women
Date:5/12/2008

A mutated gene has been discovered as the key behind epilepsy and mental retardation specific to women, thanks to new research at Adelaides Womens & Childrens Hospital and the University of Adelaide, Australia.

The world-first discovery, published today in Nature Genetics, shows that although men carry the bad gene, only women are affected.

The research has been led by Dr Leanne Dibbens and Associate Professor Jozef Gecz from the Department of Genetic Medicine, Womens & Childrens Hospital, and the Discipline of Paediatrics at the University of Adelaide. The discovery is a result of a major international collaboration involving the Sanger Institute in Cambridge (UK), Wellcome Trust (UK) and many other collaborators in Australia, the United States, Ireland and Israel.

Their work has linked, for the first time, a large family of genes known as protocadherins with a condition known as epilepsy and mental retardation limited to females (EFMR).

Although a relatively uncommon disorder, the condition is hereditary, with successive generations of women affected. In just one of seven families studied across the world, 23 women were affected by the disorder across five generations. This discovery will now enable such families to benefit from genetic counselling, including screening for the genetic mutation at pregnancy.

This is the first time this type of gene has been found to be involved in epilepsy, Dr Dibbens says.

One of the most important discoveries weve made is that women in families affected by EFMR carry both a 'good' gene and a 'bad' (mutated) gene, while the men carry only the bad gene. For some reason, the men remain unaffected by the condition, Dr Dibbens says.

We suspect this may have something to do with the male Y chromosome, but more research will be needed to find out exactly how or why.

Dr Dibbens says the gene involved in this discovery is important for cell-to-cell communicat
'/>"/>

Contact: Dr. Leanne Dibbens
leanne.dibbens@cywhs.sa.gov.au
61-881-616-842
University of Adelaide
Source:Eurekalert

Page: 1 2

Related medicine news :

1. What is the more suitable for early detection of low abundant lamivudine-resistant mutants?
2. FSU researchers mutant proteins could lead to new treatment for heart disease
3. Constipations Many Causes and Cures
4. How adhesive protein causes malaria
5. Eating AGE-Rich Foods Causes Dysfunction Linked to Heart Disease
6. Patient Safety Authority Releases Advisory Focusing on Common Causes of Medication Errors
7. New research shows how H5N1 virus causes disease
8. New discovery may improve treatment of one of the worlds leading causes of blindness
9. Research shows how genetic mutation causes epilepsy in infants
10. U-M scientists find new causes for neurodegeneration
11. IOM Workshop Calls for Greater Research Focus on Environmental Causes of Autism
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/21/2008)... New names and fresh websit... UME/GME administration software , ... one45 Software, a leading provider of healthcare ... of Cytiva Software Inc. (CRX:TSX.V), announced to...hcare education administration products., , ,Compl...
(Date:8/20/2008)... NEWTON, Mass., Aug. 20 /PRNewswire/ -- Questex M...o-business media company and owner of,American Spa... and the,International Beauty Shows, the Internati...) and the SPATEC appointment events today announce...stry portals SpaTrade (, http://www.SpaTrade.com ...
(Date:8/20/2008)... Survey Report Is Available at http://ww...Newswire/ -- A new survey released today,documents...re leveraging,health information technology (HIT) ...The survey results highlight the need for many HIT...dization and,interoperability to optimize clinical...
(Date:8/20/2008)...use postponed reproductive onset in teen, adult fe...EDNESDAY, Aug. 20 (HealthDay News) -- Alcoholism i...ccording to a study that compared women,s and men,... age when they had their first child. , The re...ian twins born between 1893-1964 (3,634 female and...
Breaking Medicine News(10 mins):Health News:Cytiva's one45 Software Rebrands Healthcare Education Administration Products 2Health News:Cytiva's one45 Software Rebrands Healthcare Education Administration Products 3Health News:Cytiva's one45 Software Rebrands Healthcare Education Administration Products 4Health News:Questex Acquires Leading Spa Industry Portal and Spa Executive Business Networking Site and Events 2Health News:Questex Acquires Leading Spa Industry Portal and Spa Executive Business Networking Site and Events 3Health News:New Health IT Survey for Care Management Services Shows Opportunities for Integration, Standardization and Innovation 2Health News:New Health IT Survey for Care Management Services Shows Opportunities for Integration, Standardization and Innovation 3Health News:Women's Alcohol Use Tied to Delayed Childbearing 2
...t therapy given during surgery extends survival ti...fe expectancy in non-small cell lung cancer (NSCLC...e is very hard to treat, especially when it has sp...ors at Thomas Jefferson University Hospital, Phila...
...rson aged 40 or over has a lifetime risk of heart ...ave high blood pressure. Heart failure is an incre...ed by increasing pressure within the heart which m...body. Typical symptoms are breathlessness and fati...
...prescribed medicines by the doctor are to be verif...ay an important role in helping you. Experts at th...t of your health care team, alongside your physici... your medications dispensed at the once pharmacy. ...
... coughs are harmless, while others merit medical a..., symptom. Most often it's part and parcel of a co...o spread the infection, there's little you can do....a more serious underlying medical condition. Doct...
Other Medicine News:
(Date:8/18/2008)... JERUSALEM, Israel, August 18 /PRNewswire-FirstCal...) ( http://www.oramed.com ), a developer,of oral d..., entitled "Open,Label Study to Assess the Safety,...f Five Oral Insulin Formulations in Healthy,Subjec...ing 44th Annual,Meeting of the European Associatio...
(Date:8/18/2008)...Industry Leader with Strong Clinical Research Rela...owth Organizations to Lead Commercialization, SAN...- NewCardio, Inc.,(OTC Bulletin Board: NWCI) a ca...nced that Vincent W. Renz has joined NewCardio as ... commercialization effort, to include,business dev...
(Date:8/18/2008)... BETHESDA, Md., Aug. 18 /- ...al company developing novel, proprietary,antibodie...toimmune,diseases, will host a webcast and confere... 10:00 a.m. Eastern Time (4:00 p.m. Central Europe...e published in the Journal,SCIENCE on August 15, 2...
(Date:8/15/2008)... AUDUBON, Pa., Aug. 15 /- Globus Medi...nt manufacturer in the world, today announced,that...en implanted under an,Investigational Device Exemp...ald Johnson II and Dr. Rhett Murray., The FLEXUS(...tween two,spinous processes with minimal disruptio...
Breaking Medicine Technology:Oramed Pharmaceuticals Chosen to Present Oral Insulin Trial Results at EASD Conference (September 7-11, Rome) 2Vincent W. Renz Joins NewCardio as President 2Vincent W. Renz Joins NewCardio as President 3Vincent W. Renz Joins NewCardio as President 4Micromet, Inc. to Host Webcast and Conference Call to Discuss Blinatumomab Data Published in SCIENCE 2Micromet, Inc. to Host Webcast and Conference Call to Discuss Blinatumomab Data Published in SCIENCE 3Micromet, Inc. to Host Webcast and Conference Call to Discuss Blinatumomab Data Published in SCIENCE 4First FLEXUS(TM) Interspinous Spacer Surgeries for IDE Clinical Trial 2Medivation Announces Presentation of Positive MDV3100 Clinical Data in Castration Resistant Prostate Cancer Patients at 44th ASCO Annual Meeting 2291 1Medivation Announces Presentation of Positive MDV3100 Clinical Data in Castration Resistant Prostate Cancer Patients at 44th ASCO Annual Meeting 2291 2Medivation Announces Presentation of Positive MDV3100 Clinical Data in Castration Resistant Prostate Cancer Patients at 44th ASCO Annual Meeting 2291 3Medivation Announces Presentation of Positive MDV3100 Clinical Data in Castration Resistant Prostate Cancer Patients at 44th ASCO Annual Meeting 2291 4Drinking polyphenol rich Concord grape juice may improve memory in older adults 20857 1Drinking polyphenol rich Concord grape juice may improve memory in older adults 20857 2Louisiana May Mandate Fluoridation Despite Evidence of Harm 20853 1Louisiana May Mandate Fluoridation Despite Evidence of Harm 20853 2Derma Sciences Announces Numerous Clinical Presentations on MEDIHONEY 28TM 29 Wound 26 Burn Dressings at Upcoming WUWHS Conference 20849 1Derma Sciences Announces Numerous Clinical Presentations on MEDIHONEY 28TM 29 Wound 26 Burn Dressings at Upcoming WUWHS Conference 20849 2Derma Sciences Announces Numerous Clinical Presentations on MEDIHONEY 28TM 29 Wound 26 Burn Dressings at Upcoming WUWHS Conference 20849 3Derma Sciences Announces Numerous Clinical Presentations on MEDIHONEY 28TM 29 Wound 26 Burn Dressings at Upcoming WUWHS Conference 20849 4
..., Calif., May 02, 2007 /PRNewswire/ -- Ceregene, I...hase 1 trial of,CERE-110, a gene therapy product d...he treatment of Alzheimer,s disease. After one,yea...ho received,CERE-110 in the trial indicate that a ...rated, and an interim analysis suggested that,the ...
...Y, Mo.--(BUSINESS WIRE)--May 4, 2007 - New data ha...sclerosis (RRMS),patients treated with COPAXONE(R)...munosuppression with mitoxantrone experienced a,90...MRI)-monitored,disease activity compared to their ...d were sustained throughout the 24-month study,per...
Other Medicine Technology:Ceregene Presents Interim Phase 1 Clinical Data of CERE-110 for the,Treatment of Alzheimer's Disease 2Ceregene Presents Interim Phase 1 Clinical Data of CERE-110 for the,Treatment of Alzheimer's Disease 3Ceregene Presents Interim Phase 1 Clinical Data of CERE-110 for the,Treatment of Alzheimer's Disease 4Copaxone Treatment over Two Years after Short Term Induction with,Mitoxantrone Provided Sustained Benefits to Active,Relapsing-Remitting Multiple Sclerosis Patients 2Copaxone Treatment over Two Years after Short Term Induction with,Mitoxantrone Provided Sustained Benefits to Active,Relapsing-Remitting Multiple Sclerosis Patients 3Copaxone Treatment over Two Years after Short Term Induction with,Mitoxantrone Provided Sustained Benefits to Active,Relapsing-Remitting Multiple Sclerosis Patients 4Copaxone Treatment over Two Years after Short Term Induction with,Mitoxantrone Provided Sustained Benefits to Active,Relapsing-Remitting Multiple Sclerosis Patients 5Copaxone Treatment over Two Years after Short Term Induction with,Mitoxantrone Provided Sustained Benefits to Active,Relapsing-Remitting Multiple Sclerosis Patients 6Copaxone Treatment over Two Years after Short Term Induction with,Mitoxantrone Provided Sustained Benefits to Active,Relapsing-Remitting Multiple Sclerosis Patients 7
... reference laboratory and a worldwide leader in in... offers an extensive test menu of highly complex a...athology. Owned by the University of Utah, ARUP La...nation's university teaching hospitals and childre...
... reference laboratory and a worldwide leader in in... offers an extensive test menu of highly complex a...athology. Owned by the University of Utah, ARUP La...nation's university teaching hospitals and childre...
... reference laboratory and a worldwide leader in in... offers an extensive test menu of highly complex a...athology. Owned by the University of Utah, ARUP La...nation's university teaching hospitals and childre...
... reference laboratory and a worldwide leader in in... offers an extensive test menu of highly complex a...athology. Owned by the University of Utah, ARUP La...nation's university teaching hospitals and childre...
Medicine Products: