Navigation Links
Rare genomic mutations found in 10 families with early-onset, familial Alzheimer's disease
Date:6/17/2013

Although a family history of Alzheimer's disease is a primary risk factor for the devastating neurological disorder, mutations in only three genes the amyloid precursor protein and presenilins 1 and 2 have been established as causative for inherited, early-onset Alzheimer's, accounting for about half of such cases. Now Massachusetts General Hospital (MGH) researchers have discovered a type of mutation known as copy-number variants (CNVs) deletions, duplications, or rearrangements of human genomic DNA in affected members of 10 families with early-onset Alzheimer's. Notably, different genomic changes were identified in the Alzheimer's patients in each family.

The study was conducted as part of the Alzheimer's Genome Project directed by Rudolph Tanzi, PhD, director of the Genetics and Aging Research Unit at Massachusetts General Hospital (MGH) and a co-discoverer of the first three early-onset genes and was supported by the Cure Alzheimer's Fund and the National Institute of Mental Health (NIMH).

"We found that the Alzheimer's-afflicted members of these families had duplications or deletions in genes with important roles in brain function, while their unaffected siblings had unaltered copies of those genes," says Basavaraj Hooli, PhD, of the Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, lead author of a report that has been published online in Molecular Psychiatry. "Since our preliminary review of the affected genes has provided strong clues to a range of pathways associated with Alzheimer's disease and other forms of dementia, we believe that further research into the functional effects of these CNVs will provide new insights into Alzheimer's pathogenesis." Hooli is a research fellow in Neurology at Harvard Medical School.

Most studies searching for genes contributing to Alzheimer's risk have looked for variants in a single nucleotide, and while thousands of such changes have bee
'/>"/>

Contact: Mike Morrison
mdmorrison@partners.org
617-724-6425
Massachusetts General Hospital
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Following the genomic pathways to stop the spread of cancer
2. Genomic study of rare childrens cancer yields possible prognostic tool
3. Mayo, UCSF team discovers genomic variant that increases risk of brain tumors
4. Study identifies genes associated with genomic expansions that cause disease
5. $8.9 million NIH grant to study genomic link to premature heart disease
6. Edith Sanford Breast Cancer Foundation and TSRI partner in genomic breast cancer research
7. Molecular Genetics & Genomic Medicine: New open access journal launched by Wiley
8. Ontario Genomics Institute invests in stem cell technology at Tissue Regenerative Therapeutics
9. Study shows large-scale genomic testing feasible, impacts therapy
10. Stanford/Yale study gives insight into subtle genomic differences among our own cells
11. NIH grant moves pathologists to the forefront of genomic medicine
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/21/2014)... mothers are less likely than white moms to breast-feed ... in neighborhoods with many black residents do less to ... residents, a U.S. government study finds. Key practices ... centers where the black population is higher than average, ... Prevention reported Thursday. These practices include efforts to ...
(Date:8/21/2014)... THURSDAY, Aug. 21, 2014 (HealthDay News) -- Among seniors, ... suggests. The study involved more than 2,500 people, aged ... the study and again two, six and eight years later. ... in the person,s risk of death during the study period, ... and effect, researchers led by Sharon Christ of Purdue University ...
(Date:8/21/2014)... York, New York (PRWEB) August 21, 2014 ... filed against C.R. Bard, Inc. continue to move ... U.S. District Court, Southern District of West Virginia, ... Order issued on August 14th, the Court has ... evidence that requires special handling, division, storage and ...
(Date:8/21/2014)... to focus on her body in terms of how ... as a complete human being with thoughts and feelings. ... the media, how does it affect individual romantic relationships? ... , a SAGE journal, finds that more objectification of ... of sexual pressure and coercion., Researchers Laura R. Ramsey ...
(Date:8/21/2014)... FL (PRWEB) August 21, 2014 The ... published today in The Journal of the American Medical ... more invasive cancers and reduces unnecessary recalls. Memorial Healthcare ... in the study. , “This study confirms what we ... invasive, harmful cancers we want to find and, at ...
Breaking Medicine News(10 mins):Health News:Racial Disparities in Breast-Feeding May Start With Hospitals, Study Suggests 2Health News:Failing Vision Tied to Shorter Lifespans for Seniors 2Health News:Transvaginal Mesh Lawsuits Move Forward in Federal C.R. Bard Litigation with Issuance of New Pretrial Order, Bernstein Liebhard LLP Reports 2Health News:Transvaginal Mesh Lawsuits Move Forward in Federal C.R. Bard Litigation with Issuance of New Pretrial Order, Bernstein Liebhard LLP Reports 3Health News:Objectification in romantic relationships related to sexual pressure and coercion 2Health News:Dr. Mary Hayes: Study Shows 3D Mammography Finds More Invasive Cancers While Reducing Unnecessary Recalls 2
... protein involved in Huntingtons disease take place earlier in ... College of Medicine in Houston in a report that ... , This research provides evidence of toxicity by huntingtin ... disease process, said Dr. Juan Botas, associate professor of ...
... As Americans increasingly seek a quick fix to physical ... crossfire of a debate about the potential benefits and ... A panel discussion entitled, The Uses of Medications in ... led by internationally renowned psychoanalyst Glen O. Gabbard, M.D., ...
... Department of Energy,s Brookhaven National Laboratory have found new ... while others don,t. Examining how the human brain responds ... various stages of fullness, the scientists have identified brain ... target these circuits may prove useful in controlling chronic ...
... Metabothin B56 with Ephedra Extract Released Just in Time for the Holiday ... ... CITY, Jan. 9 The average American gains 50%,of his yearly weight ... Americans that are already overweight., Metabothin ( http://www.metabothin.net ), the herbal ...
... can reduce healthcare costs by aiding in senior health and ... ... DSS Research, a,leader in market research for the health insurance industry, ... (SrHRA(TM)) for the 65 and over population. SrHRA provides,proven health risk stratification ...
... Bangladesh, Kenya, Tanzania and ... ... announced that it has,entered into four new technology transfers with local ... therapy are needed. These companies are Regal,Pharmaceuticals in Kenya, CAPS Holdings ...
Cached Medicine News:Health News:Uses of medications in psychoanalysis 2Health News:Overweight people may not know when they've had enough 2Health News:Overweight people may not know when they've had enough 3Health News:Metabothin B56 with Ephedra Extract Now Available 2Health News:DSS Research Announces Senior Health Risk Assessment Tool 2Health News:Roche Engages in Four Additional AIDS Technology Transfers to Strengthen Local Manufacturing in World's Poorest Countries 2Health News:Roche Engages in Four Additional AIDS Technology Transfers to Strengthen Local Manufacturing in World's Poorest Countries 3Health News:Roche Engages in Four Additional AIDS Technology Transfers to Strengthen Local Manufacturing in World's Poorest Countries 4
(Date:8/21/2014)... HAMBURG, Germany , Aug. 21, 2014  IBM (NYSE: ... Deutsches Elektronen-Synchrotron ( DESY ), a leading national research ... up management and storage of massive volumes of x-ray ... architecture based on IBM software defined technology can handle ... peak performance and help scientists worldwide gain faster insights ...
(Date:8/21/2014)... -- Zacks.com announces the list of stocks featured in the Analyst ... latest news and events impacting stocks and the financial markets. ... HPQ - Free Report ), IBM (NYSE: IBM - ... Free Report ), GlaxoSmithKline plc (NYSE: GSK - Free ... Free Report ). Today, Zacks is promoting its ...
(Date:8/21/2014)... Aug. 21, 2014  Henry Schein, Inc. (NASDAQ: ... and services to office-based dental, animal health and medical practitioners, ... conferences in September: , September 4, 2014 – ... , NY at 12:50 p.m. ET , September 8, 2014 ... New York , NY at 1:25 p.m. ET ...
Breaking Medicine Technology:DESY and IBM Develop Big Data Architecture for Science 2DESY and IBM Develop Big Data Architecture for Science 3The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 2The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 3The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 4The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 5The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 6The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 7The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 8The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 9The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 10The Zacks Analyst Blog Highlights: Hewlett-Packard, IBM, Safe Bulkers, GlaxoSmithKline and Frank's International 11Henry Schein To Present At Two Investor Conferences In September 2
... InCode BioPharmaceutics, Inc.,an emerging biopharmaceutical company, today ... their lead drug candidate rC3-1 for,the treatment ... nocturnal,hemoglobinuria (PNH). The complete results will be ... Basel, Switzerland, September 28,2008., The only ...
... a leading innovator,of physiological monitoring solutions for more ... with its breakthrough technology to measure,regional oxygen saturation. ... continuous monitoring of the regional blood oxygenation,in the ... and outcomes from an ongoing clinical study at ...
Cached Medicine Technology:InCode BioPharmaceutics, Inc. Announces Key Data Supporting New Treatment of Paroxysmal Nocturnal Hemoglobinuria (PNH) 2Nonin Medical Inc. Announces Entry Into the Cerebral Oximeter Market 2
BioSoft alcohol gel hand antiseptic with soothing moisturizers is a fast-acting, broad-spectrum antimicrobial solution. BioSoft alcohol gel hand antiseptic applies easily, requires no rinsing and dri...
... Scrub Care povidone-iodine (PVP-I) antimicrobial solutions ... control in all hospital and health-care settings. ... gel have a broad spectrum of activity, ... bacteria that may cause infection. The new ...
... hand sanitizers like Aplicare No Rinse Isopropyl ... as the recommended product for hand disinfection ... Guidelines for hand hygiene., According to the ... be prevented with better infection control programs. ...
This is long known for its purity and mildness, Castile Soap is also an effective cleaning agent that is used in a variety of applications. It rinses clean while leaving the skin soft and healthy....
Medicine Products: