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
Howard Hughes Medical Institute

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:

(Date:4/28/2016)... BANGALORE, India , April 28, 2016 /PRNewswire/ ... product subsidiary of Infosys (NYSE: INFY ), and ... global partnership that will provide end customers with ... banking and payment services.      (Logo: http://photos.prnewswire.com/prnh/20130122/589162 ... area for financial services, but it also plays a fundamental ...
(Date:4/26/2016)... 27, 2016 Research and ... Biometrics Market 2016-2020"  report to their offering.  , ... The analysts forecast the global multimodal biometrics ... during the period 2016-2020.  Multimodal biometrics ... such as the healthcare, BFSI, transportation, automotive, and ...
(Date:4/15/2016)... , April 15, 2016 ... "Global Gait Biometrics Market 2016-2020,"  report to their ... ) , ,The global gait biometrics market ... 13.98% during the period 2016-2020. Gait ... which can be used to compute factors that ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... 23, 2016   EpiBiome , a precision microbiome ... in debt financing from Silicon Valley Bank (SVB). The ... to advance its drug development efforts, as well as ... "SVB has been an incredible strategic partner to ... traditional bank would provide," said Dr. Aeron Tynes ...
(Date:6/23/2016)... Durham, NC (PRWEB) , ... June 23, 2016 , ... ... Odense University Hospital in Denmark detail how a patient who developed lymphedema after being ... (fat) tissue. The results could change the paradigm for dealing with this debilitating, frequent ...
(Date:6/23/2016)... June 23, 2016 ... 2016;12(1):22-8 http://doi.org/10.17925/OHR.2016.12.01.22 Published recently ... peer-reviewed journal from touchONCOLOGY, Andrew D Zelenetz ... of cancer care is placing an increasing burden ... expensive biologic therapies. With the patents on many ...
(Date:6/23/2016)... Pleasant Prairie, WI (PRWEB) , ... June 23, ... ... sciences consultancy focused on quality, regulatory and technical consulting, provides a free ... webinar is presented on July 13, 2016 at 12pm CT at no charge. ...
Breaking Biology Technology:
Cached News: