Navigation Links
Researchers track down cause of a disfiguring bone disorder

Scientists have tracked down the biological trigger that gives rise to Van Buchem disease, a hereditary, disfiguring bone disorder that can cause blindness and deafness. The findings provide insight into long-range gene regulation and could lead to new treatments for osteoporosis and other crippling bone disorders.

A research team from Lawrence Livermore and Lawrence Berkeley national laboratories, the Novartis Institutes for BioMedical Research in Switzerland, and the DOE Joint Genome Institute in Walnut Creek, Calif., characterized a human mutation associated with the malfunctioning of the sclerostin, or SOST, gene, and showed that it plays a key role in regulating bone formation. The culprit is a regulatory element in a missing 52,000-base-pair stretch of DNA that normally directs the SOST gene to produce a protein that maintains control of bone formation rates. Without this regulator, bone production goes up, progressively increasing bone density, or osteosclerosis.

The effect primarily occurs in the skull and lower jaw of Van Buchem patients, causing facial distortions and pinching cranial nerves, which can lead to deafness and blindness. Collarbones, ribs and long bones can also be affected.

The research team, led by Gabriela Loots of Livermore's Genome Biology Division, reports its findings today in the online version of the journal Genome Research.

Noncoding DNA segments ?long stretches of DNA that do not code for proteins and were once thought to have no biological function ?are now being found to contain regions that play a key role in switching distant genes on and off. Today's study is one of the first to pinpoint a disease-associated mutation that alters one of these long-range regulatory elements.

"Our study addresses a fundamental issue with regard to the majority of the human genome that is noncoding in nature, and its potential impact on human health," Loots said. "Noncoding regions located far away from the ge
'"/>

Source:DOE/Lawrence Livermore National Laboratory


Page: 1 2 3

Related biology news :

1. Researchers discover way to make cells in the eye sensitive to light
2. Researchers find how protein allows insects to detect and respond to pheromones
3. Researchers Uncover Key Step In Manufacture of Memory Protein
4. Researchers reveal the infectious impact of salmon farms on wild salmon
5. Researchers identify target for cancer drugs
6. Researchers discover molecule that causes secondary stroke
7. Researchers find missing genes of ancient organism
8. Researchers trace evolution to relatively simple genetic changes
9. Researchers add new tool to tumor-treatment arsenal
10. UF Researchers Map Bacterial Proteins That Cause Tooth Loss
11. VCU Researchers Identify Networks Of Genes Responding To Alcohol In The Brain
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Researchers track down cause disfiguring bone disorder

(Date:7/31/2015)... , Jul. 31, 2015 NXT-ID, Inc. (NASDAQ: ... authentication company focused on the growing mobile commerce market ... it has filed provisional patent 62/198989 for ... invention highlights a method to advance crypto-currencies such as ... introducing a common, uniform way to manage all payments.  ...
(Date:7/23/2015)... 2015 Aware, Inc. (NASDAQ: AWRE ), a ... results for its second quarter ended June 30, 2015.  ... $4.5 million, a decrease of 33% compared to $6.8 million ... second quarter of 2015 was $0.3 million, or $0.01 per ... diluted share, in the same period a year ago.  ...
(Date:7/20/2015)... DENVER , July 20, 2015  Acuity ... Mobility Report: The Convergence of Commerce and Privacy" ... billion mobile biometric apps will be downloaded to ... users. The mobile biometrics market is projected to ... app revenue during the seven-year forecast period.    ...
Breaking Biology News(10 mins):NXT-ID Patents Electronic Crypto-Currency Management Technology 2NXT-ID Patents Electronic Crypto-Currency Management Technology 3NXT-ID Patents Electronic Crypto-Currency Management Technology 4Aware, Inc. Reports Second Quarter 2015 Financial Results 2Aware, Inc. Reports Second Quarter 2015 Financial Results 3Aware, Inc. Reports Second Quarter 2015 Financial Results 4Aware, Inc. Reports Second Quarter 2015 Financial Results 5Aware, Inc. Reports Second Quarter 2015 Financial Results 6Biometrics on Smart Mobile Devices to Redefine Digital Identity with 12.9 Billion Biometric App Downloads between 2014 and 2020 2
... Mellon University researchers have identified a new anticonvulsant compound ... epilepsy. The findings are published in the March issue ... The research discovery builds on previous work identifying ... with seizure disorders, a potassium channel known as the ...
... holes in the limestone of the ocean floor using teeth ... their secrets, which might give engineers insights into creating ever-sharp ... fit their globular bodies using their five teeth, which, like ... continue to grow on the other end throughout the animals, ...
... May 1, 2009 -- With each passing year, the human ... created a wide ranging strain on our water and soil ... to address the issue of food security. One way that ... modification of seeds, both as a method of improving crop ...
Cached Biology News:Drug prevents seizure progression in model of epilepsy 2True grit 2Food security: It starts with seed 2
(Date:7/30/2015)... , ... July 30, 2015 , ... ... advanced fluid applications and designed for continuous operation up to 1500 bar. The ... ensuring safety, efficiency, and preventing toxic contamination. , The Pony™ NS2006L homogenizer is ...
(Date:7/29/2015)... , July 30, 2015 ... santé, publie ses résultats pour le premier semestre ... commente les résultats. Visionner l,interview vidéo ... http://www.eurobusinessmedia.com/ceo-direct/sanofi/sanofi-h1-2015-results-interview-with-ceo-olivier-brandicourt?utm_source=ceo-direct&utm_medium=wire Au sommaire de l,interview ... - Moteurs de croissance - Diabète ...
(Date:7/29/2015)... July 29, 2015 US-Australian drug discovery company, ... confirmed it is committed to progressing its ground-breaking technology ... practicable and to ensure the Company delivers the best ... Iain Ross , said the Company currently had ... pre-clinical programs, discovery programs and academic partnerships and initiatives, ...
(Date:7/29/2015)... 2015 /PRNewswire/ - BioAmber Inc. (NYSE: BIOA ) today ... Financial Officer has resigned.  The Company has hired ... retired in December 2014, as full time interim CFO ... Andy Ashworth began his employment ... smooth transition.  Andy was the Company,s CFO from September ...
Breaking Biology Technology:GEA Announces the Pony™ NS2006L… a Self-contained, High Pressure Lab Homogenizer for Product Development Ensuring Maximum Efficiency and Safety 2Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 2Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 3Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 4Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 5Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 6Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 7Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 8Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 9Newly Appointed Acting CEO Outlines Immediate Plans for Novogen 10BioAmber Announces Change in Chief Financial Officer 2BioAmber Announces Change in Chief Financial Officer 3
... Calif., Aug. 30 TorreyPines Therapeutics,Inc. (Nasdaq: TPTX ... Executive Officer of TorreyPines, will present at the NewsMakers ... September 6th at,3:00 p.m., Eastern Time. A webcast ... can,access the webcast at: http://www.torreypinestherapeutics.com . An archived,version ...
... BRISBANE, Calif., Aug. 30 InterMune, Inc.,(Nasdaq: ITMN ... Chief,Executive Officer of InterMune, will present at the Thomas ... 3:50 p.m. EDT. Mr.,Welch will also present at the ... on September 11, 2007 at 3 p.m. EDT. ...
... Australia, Aug. 30 Progen,Pharmaceuticals Limited (ASX: PGL; Nasdaq: ... present at the Thomas Weisel,Partners Healthcare Conference at The ... 2007 at 9:10 AM EDT. The audio presentation ... the,Company,s website at http://www.progen-pharma.com . A replay of ...
Cached Biology Technology:InterMune to Present at Thomas Weisel and Bear Stearns Healthcare Conferences 2
Request Info...
... Multidrop Combi is a new generation dispenser ... dispensing with the proven performance of the existing ... cover large volume area starting from 500 nl ... the range. ,It is optimized for ...
... offers lower consumption of reagents and ... The Multidrop 384 is an automated ... microvolume dispensing into 384- and 96-well ... It can easily switch from 96- ...
MBS 384 well satellite block unit with height adjusting heated lid, 384 well block holds 1 x 0.04 ml 384 well plate...
Biology Products: