Navigation Links
Researchers at Cruces Hospital describe new syndrome of slight family intellectual disability
Date:9/26/2011

these tests and with a family history, the scientists decided to continue the research.

At this point the exploration of other genes on the X chromosome became necessary, a task which was able to be carried out thanks to two research projects initiated by the Basque Foundation for Health Innovation and Research, employing the income obtained from the telemarathon solidarity events of the Basque Public Broadcasting Corporation some years ago and which was channelled into research into limited intellectual disability and rare diseases.

The team led by Isabel Tejada then decided to apply a technique known as CNV (copy number variants), "observing deletions and duplications of the genome not visible with the microscope". To this end, "we used a a technique known as MLPA (Multiplex ligation-dependent probe amplification) involving a number of probes or fragments of the genome we wished to analyse, given that there had been three known similar cases with the common factor of maternal inheritance. To our surprise we spotted a duplication of a very small region, hitherto undescribed, and which contained 7 genes of which only one - the RPS6KA3 is related to mental retardation", pointed out the geneticist.

Nevertheless, mutations in this gene produce another type of syndrome which was not the case in this patient. "This fact made us think that we had something novel in front of us and that, as happens with other syndromes, the duplication of the gene or genes produces a pathological effect opposite to and/or different from isolated deletions or mutations, given that it is not the deficiency of one or various proteins, but their over-expression, that produces the pathological effect".

Finally, the hypothesis was tested "with other, complementary tests, such as CGH (comparative genomic hybridisation) arrays and studies of messenger RNA and protein expression".


'/>"/>

Contact: Oihane Lakar
o.lakar@elhuyar.com
0034-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

Page: 1 2

Related biology news :

1. UCLA researchers develop system that finds prostate cancer spread earlier than conventional imaging
2. Joslin researchers identify pathways leading to activation of good fat
3. Kansas researchers find enriched infant formulas benefit brain and heart
4. Researchers sequence dark matter of life
5. Researchers discover a switch that controls stem cell pluripotency
6. MU researchers unveil new method for detecting lung cancer in Nature article
7. Notre Dame researchers demonstrate antibiotic sensing event central to MSRA antibiotic resistance
8. Researchers uncover a potential new benefit of pure maple syrup on liver health
9. EPA grants help Wayne State researchers stave off Great Lakes environmental invaders
10. UTHealth, BCM researchers find common gene variant associated with aortic dissection
11. Researchers find high levels of toxic PCBs in Indiana Harbor and Ship Canal
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/11/2014)... researchers at the National Institute of Standards and ... their work more effectively, they often prove that ... was the case recently for M. Lorna De ... the growing specialization of glycomics. Glycomics is the ... glycans that are attached to proteins and lipids ...
(Date:7/11/2014)... University, Sweden, have explored two different ways that ... leading to the formation of oxygen molecules in ... the scientific journal Nature Communications . , ... synthetic catalysts for water oxidation, which are key ... direct storage of solar energy in fuels like ...
(Date:7/11/2014)... under the normal circumstances, astrocytes participate in ... environment, and exhibit therapeutic and repairing effects ... studies have found that nerve cells differentiated ... have reduced viability, which produces influences on ... Kailuan General Hospital, Hebei United University, China ...
Breaking Biology News(10 mins):Molecular snapshots of oxygen formation in photosynthesis 2
... who suffer from sunburn could soon benefit from a ... helps prevent the onset of skin cancer, according to ... , Unlike conventional sunscreen lotions which merely act as ... ingredient releases an active ingredient which mops up free ...
... made a discovery that broadens understanding of a rapidly ... sheds more light on the mysterious, so-called "junk DNA" ... , The team, led by Beverly Davidson, Ph.D., a ... and UI professor of internal medicine, physiology and biophysics, ...
... St. Louis-area teenage boy and a computer game have ... a team of neurosurgeons, neurologists, and engineers at Washington ... 14-year-old who suffers from epilepsy, is the first teenager ... only the signals from his brain to make movements. ...
Cached Biology News:New sunscreen ingredient to heal sunburn and help prevent skin cancer 2New sunscreen ingredient to heal sunburn and help prevent skin cancer 3University of Iowa scientists explore function of 'junk DNA' 2Teenager moves video icons just by imagination 2Teenager moves video icons just by imagination 3
(Date:7/11/2014)... (PRWEB) July 11, 2014 BCC Research ... DIGITAL POLYMERASE CHAIN REACTION (PCR) TECHNOLOGY: GLOBAL MARKETS ... (PCR) technology reached nearly $140 billion in 2013. This ... registering a five-year compound annual growth rate (CAGR) of ... number of interesting and exciting possibilities within the broader ...
(Date:7/11/2014)... , July 11, 2014 /CNW/ - Sunovion Pharmaceuticals ... APTIOM TM (eslicarbazepine acetate) for use as a ... in patients with epilepsy who are not satisfactorily controlled ... for use in patients under 18 years of age. ... common neurological disorders and according to Epilepsy Canada, it ...
(Date:7/11/2014)... 2014 Cayenne Medical, Inc., a ... the soft tissue reconstruction segment, announced the worldwide ... surgeries involving the shoulder and extremities. The SureLock ... inserter-controlled deployment method. The unique delivery eliminates manual ... pull-out, or anchor displacement (also commonly know as ...
(Date:7/10/2014)... Canada (PRWEB) July 10, 2014 ... present in very low abundance and are often ... challenging and time-consuming. , Join presenters Dr. Rowel ... and Dr. John Anders, Head of Quality at ... spectrometer-based approach that can speed detection and quantitation ...
Breaking Biology Technology:Global Market for Digital Polymerase Chain Reaction Technology to Reach $490 Billion by 2018; Equipment Sector Accounts for the Fastest Growing Segment With 33% CAGR 2Global Market for Digital Polymerase Chain Reaction Technology to Reach $490 Billion by 2018; Equipment Sector Accounts for the Fastest Growing Segment With 33% CAGR 3Sunovion Pharmaceuticals Canada Inc. Announces Health Canada Approval of APTIOM(TM) (eslicarbazepine acetate) as a Once-Daily Adjunctive Treatment for Partial-Onset Seizures in Patients with Epilepsy 2Sunovion Pharmaceuticals Canada Inc. Announces Health Canada Approval of APTIOM(TM) (eslicarbazepine acetate) as a Once-Daily Adjunctive Treatment for Partial-Onset Seizures in Patients with Epilepsy 3Sunovion Pharmaceuticals Canada Inc. Announces Health Canada Approval of APTIOM(TM) (eslicarbazepine acetate) as a Once-Daily Adjunctive Treatment for Partial-Onset Seizures in Patients with Epilepsy 4Cayenne Medical Launches SureLock™ All-Suture Anchor System for Shoulder and Extremity Surgery 2Cayenne Medical Launches SureLock™ All-Suture Anchor System for Shoulder and Extremity Surgery 3Novel Ms Techniques Speed Detection of Biopharmaceutical Product and Process Impurities, New Webinar Hosted by Xtalks 2
... PLSG Invests More Than $.5 million in Three ... Life Sciences,Greenhouse (PLSG), the private/public partnership putting the ... growth, announced that the PLSG has,invested a total ... and Blue Belt Technologies. "We are very ...
... Sept. 11 Archer Daniels,Midland Company (NYSE: ... the Company,s,Commercial and Production group which is ... functions. John Rice, executive,vice president, Commercial and ... incremental business goals. I am confident that,these ...
... PALO ALTO, Calif., Sept. 11 Jazz,Pharmaceuticals, Inc. ... Saks,M.D., the company,s Chief Executive Officer, will provide ... in New York, NY on,September 24, 2007 at ... of the presentation may be accessed by visiting ...
Cached Biology Technology:The Pittsburgh Life Sciences Greenhouse Adds to Its Investment Portfolio 2The Pittsburgh Life Sciences Greenhouse Adds to Its Investment Portfolio 3The Pittsburgh Life Sciences Greenhouse Adds to Its Investment Portfolio 4ADM Announces Appointments 2ADM Announces Appointments 3
Rabbit anti Xanthine Oxidase Xanthine Oxidase, Bovine Buttermilk...
... Stain for Mass Spectrometry Applications ,In ... (MS) has emerged as a powerful protein ... 2-D gels is now an important intermediate ... leads ultimately to identification of specific proteins ...
... M-PER Mammalian Protein Extraction Reagent ... lysis solution that means no ... no sonication! With M-PER Reagent, ... five minutes at room temperature, ...
... Optimization Kits with ammonium sulfate are compatible ... such as Tfl, Tth, and Pfu DNA ... of PCR systems in one experiment by ... primers into the PreMixes supplied with the ...
Biology Products: