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:4/6/2017)... Forecasts by Product Type (EAC), Biometrics, Card-Based ... & Logistics, Government & Public Sector, Utilities / Energy ... Nuclear Power), Industrial, Retail, Business Organisation (BFSI), Hospitality & ... for a definitive report on the $27.9bn Access Control ... ...
(Date:4/5/2017)... April 4, 2017 KEY FINDINGS ... expand at a CAGR of 25.76% during the forecast ... the primary factor for the growth of the stem ... https://www.reportbuyer.com/product/4807905/ MARKET INSIGHTS The global stem cell ... application, and geography. The stem cell market of the ...
(Date:3/30/2017)... 30, 2017  On April 6-7, 2017, Sequencing.com will ... hackathon at Microsoft,s headquarters in ... focus on developing health and wellness apps that provide ... the Genome is the first hackathon for personal ... largest companies in the genomics, tech and health industries ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ComplianceOnline’s Medical Device Summit is ... and 8th June 2018 in San Francisco, CA. The Summit brings together current and ... distinguished CEOs, board directors and government officials from around the world to address key ...
(Date:10/11/2017)... ... ... Disappearing forests and increased emissions are the main causes of the evolving air ... living in larger cities are affected by air pollution related diseases. , That is ... globally - decided to take action. , “I knew I had to take action ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... targeted antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights that give it ... Nanoparticle), a technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). ...
(Date:10/10/2017)... Calif. , Oct. 10, 2017 SomaGenics ... from the NIH to develop RealSeq®-SC (Single Cell), expected ... for profiling small RNAs (including microRNAs) from single cells ... Program highlights the need to accelerate development of approaches ... "New techniques for measuring levels ...
Breaking Biology Technology:
Cached News: