Navigation Links
Researchers discover new gene responsible for brittle bone disease

e new gene. Although the number of affected children is small, the demonstration that they have an inherited form of OI could have a major impact on their future health and quality of life."

Study Details

In the study, mice were genetically engineered by the Baylor team with the CRTAP gene removed, and then monitored for signs of abnormalities. Results showed that the mice were unable to properly line up the fibers that make up collagen using an enzyme called 3-prolyl hydroxylase, which they determined needs to bind to CRTAP for it to function normally. As a result of the loss of normal 3-prolyl hydroxylase function, the cells that build bone (osteoblasts) were found to make thicker collagen fibers, but fewer of them, resulting in weaker bone.

Boyce and his group in the Center for Musculoskeletal Research at the Medical Center characterized the skeletal abnormalities in the genetically engineered mice and carried out studies of bone cells from the mice as well as detailed microscopic analysis of their bones. They found that, without this key gene, mice developed osteoporosis due to defects in their osteoblasts. Another team working at McGill University in Montreal identified human patients who had OI due to mutations in CRTAP, demonstrating for the first time that CRTAP has an essential function in humans.

In addition, the findings of the current study provide the first proof that osteogenesis imperfecta can be inherited in a recessive manner. Previously, the genes known to be involved in OI were dominant, meaning that if you had a defect in the gene in your chromosome, you developed the disease. That left open the possibility that the mutation causing OI was spontaneous, that something went wrong for the first time in the gene of the person developing it, and not inherited from parents.

The newly discovered gene however is a recessive trait, signifying that the disease can be passed down generation to generation,
'"/>

Source:University of Rochester Medical Center


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:
(Date:11/7/2014)... , November 6, 2014 Leading ... for better mobile security revolutionizing online transactions.  Companies in focus ... Holdings Ltd. (NYSE: BABA ), Google Inc. (NASDAQ: ... ), eBay Inc. (NASDAQ: EBAY ) and MasterCard ... NXTD and NXTDW), a biometric authentication company focused on ...
(Date:11/6/2014)... metastasis, yet progress in preventing and treating migratory ... particularly challenging to design drugs that work against ... biology at Harvard Medical School. , "Unfortunately, ... metastasized." , Gujral and colleagues have now identified ... understand how metastasis begins. Their findings may also ...
(Date:11/6/2014)... Medicine, Inc, a Baltimore-based bioinformatics company focused on ... a research collaboration with the international leader in ... CSBR). , "There are many companies utilizing advances ... TumorGraft technology is unique in a way that ... vast amounts of valuable data. Our bioinformatic analysis ...
Breaking Biology News(10 mins):Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 2Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 3Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 4Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 5Universal Authentication Methods Provide More Secure Operations for Biometrics Devices - Company Joins FIDO Alliance for Consumer Protection 6Migration negation 2Migration negation 3Insilico Medicine, Inc announces research collaboration with Champions Oncology, Inc 2
... European Molecular Biology Laboratory (EMBL) have generated a digital ... a vertebrate. With a newly developed microscope scientists could ... first 24 hours in the life of a zebrafish. ... of the embryo. The study, published in the current ...
... The Indonesian government and World Wildlife Fund (WWF) today ... and critical ecosystems of Sumatra, an Indonesian island that ... endangered forests. The historic agreement represents the first-ever ... commitment has been endorsed by governors of all provinces ...
... and Infectious Diseases (NIAID), part of the National Institutes ... be up to $68.7 million to establish programs in ... institutions. Scientists at each facility will apply novel techniques ... (SARS), tuberculosis and influenza. Systems biology is the ...
Cached Biology News:Digital zebrafish embryo provides the first complete developmental blueprint of a vertebrate 2Saving Sumatra: Indonesia reaches historic agreement 2New Systems Biology Awards enable detailed study of microbes 2
(Date:11/26/2014)... The ETC (Emerging Technology Centers) http://www.etcbaltimore.com , ... that applications for AccelerateBaltimore™ (AB) 2015 program will ... a big idea?,” asked ETC’s President Deb Tillett. ... AccelerateBaltimore helps you and your big idea go ... Interested game changers with “big ideas” should ...
(Date:11/26/2014)... TX (PRWEB) November 25, 2014 Continuing ... skincare products, earned three prestigious MarCom Awards for outstanding ... Nerium received a Platinum MarCom Award, the organization’s top ... Event in St. Louis held in April of this ... more than 14,000 attendees. Additionally, Nerium was awarded a ...
(Date:11/26/2014)... WILMINGTON, DE (PRWEB) November 26, 2014 ... MPN Heroes recognition reception on December 5, 2014, in ... annual meeting. The MPN Heroes event will honor clinicians, ... the field of myeloproliferative neoplasms (MPNs). , Special ... will discuss his family's cancer journey at the reception. ...
(Date:11/26/2014)... , Nov. 25, 2014  Roka Bioscience, Inc. (NASDAQ: ... providing advanced testing solutions for the detection of foodborne pathogens, ... at the Piper Jaffray  26 th Annual Healthcare Conference ... be held at The New York Palace in ... presentation, material information concerning the Company, its operations, strategies and ...
Breaking Biology Technology:AccelerateBaltimore Applications to Close in 6 Days 2AccelerateBaltimore Applications to Close in 6 Days 3Nerium International™ Wins One Platinum, Two Gold MarCom Awards 2CURE Magazine and Incyte to Honor MPN Heroes 2CURE Magazine and Incyte to Honor MPN Heroes 3CURE Magazine and Incyte to Honor MPN Heroes 4Roka Bioscience to Present at the Piper Jaffray Healthcare Conference 2
Determin interaction of your protein with Echelons lipids...
Identify and characterize Phosphoinositide (PI(4,5)P2) binding...
... Moto Alpha unit with motorized heated lid and ... is useful for microarrays and chips. The four ... The sealing force of the motorized lid is ... give repeatable results. This interchangeable Moto Alpha unit ...
... Anti-Krueppel-like factor 15 (KLF15) KLF15 ... is found abundantly expressed in the liver, ... #: NP_054798 Specificity: Polyclonal antibody produced ... corresponding to a region of human KLF15 ...
Biology Products: