HOME >> BIOLOGY >> NEWS
Genetic mutation explains form of brittle bone disease

. And now we had shown that there is a clinical spectrum of brittle bone disease associated with differential loss of function of the protein."

Lee said that the new mechanism of brittle bone disease will have important diagnostic implications. "In child abuse cases, a frequent question is whether the children have brittle bone disease that would cause frequent bone fractures," said Lee. "Up until now, the only known genetic cause of brittle bone disease has been structural mutations in type I collagen. Now, we have explained a percentage of cases of brittle bone disease perhaps as high as fifteen percent that had all the biochemical hallmarks of the disorder but did not have type I collagen mutations. So this adds a new dimension in terms of DNA testing; clinical geneticists and pediatricians will have a new genetic test to determine whether children have this form of brittle bone disease."

The finding "opens up a whole new field in bone biology, because this has been an unappreciated mechanism of collagen modification," said Lee. Since prolyl 3-hydroxylation occurs in collagen throughout the body including the heart, blood vessels and kidneys defects in this process affecting these other tissues could be the cause of as-yet-undescribed connective tissue diseases, he said.

In further studies, Lee and his colleagues are exploring the role of prolyl 3-hydroxylation in such disorders. Also, they are using the new findings to understand the role of the process in collagen formation.


'"/>

Contact: Jennifer Michalowski
michalow@hhmi.org
301-215-8576
Howard Hughes Medical Institute
19-Oct-2006


Page: 1 2 3

Related biology news :

1. Genetic variation helps to understand predisposition to schizophrenia
2. Genetic factors strongly shape how peers are chosen
3. Genetic analysis finds greater threat in frog-killing fungus
4. Genetic diversity in honeybee colonies boosts productivity
5. 2007-2008 Genzyme/ACMGF Clinical Genetics Fellowship In Biochemical Genetics award winner announced
6. Maynard Olson receives $500,000 Gruber Genetics Prize
7. Genetic defect links respiratory disease and congenital heart disease
8. Cell Press announces new partnership with the American Society of Human Genetics
9. Genetic fellow traveler discovered in Alzheimers
10. Genetic roots of bipolar disorder revealed by first genome-wide study of illness
11. Health disparities -- Genetics, society and race play an important role in access to healthcare

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:6/30/2017)... , June 30, 2017 Today, ... developer and supplier of face and eye tracking ... Featured Product provider program. "Artificial ... innovative way to monitor a driver,s attentiveness levels ... from being able to detect fatigue and prevent ...
(Date:5/16/2017)... , May 16, 2017  Veratad Technologies, LLC ( ... online age and identity verification solutions, announced today they ... Conference 2017, May 15 thru May 17, 2017, in ... and International Trade Center. Identity impacts ... and in today,s quickly evolving digital world, defining identity ...
(Date:4/19/2017)... 2017 The global military biometrics ... marked by the presence of several large global players. ... five major players - 3M Cogent, NEC Corporation, M2SYS ... nearly 61% of the global military biometric market in ... global military biometrics market boast global presence, which has ...
Breaking Biology News(10 mins):
(Date:10/10/2017)... SANTA CRUZ, Calif. , Oct. 10, 2017 /PRNewswire/ ... SBIR grant from the NIH to develop RealSeq®-SC (Single ... preparation kit for profiling small RNAs (including microRNAs) from ... Cell Analysis Program highlights the need to accelerate development ... "New techniques for ...
(Date:10/9/2017)...  BioTech Holdings announced today identification and patenting ... stem cell therapy prevents limb loss in animal ... that treatment with ProCell resulted in more than ... to standard bone marrow stem cell administration.  Interestingly, ... of therapeutic effect.  ...
(Date:10/9/2017)... Phoenix, Arizona (PRWEB) , ... October 09, 2017 ... ... of Kindred, a four-tiered line of medical marijuana products targeting the needs of ... production and packaging of Kindred takes place in Phoenix, Arizona. , As operators ...
(Date:10/7/2017)... (PRWEB) , ... October 06, ... ... leader in Hi-C-based genomic technologies, launched its ProxiMeta™ Hi-C metagenome deconvolution product, ... Hi-C kit and accompanying cloud-based bioinformatics software to perform Hi-C metagenome deconvolution ...
Breaking Biology Technology:
Cached News: