HOME >> BIOLOGY >> NEWS
Missouri genetic disorder's roots untangled by international team

Oct. 19, 2005 -- An international team of researchers has partially untangled the genetic details of a mysterious disorder that formerly caused seizures and death in infant boys within a month of birth.

The researchers discovered a rare change in the DNA of two eastern Missouri families with a history of a condition called X-linked recessive idiopathic hypoparathyroidism (XLHPT): a portion of the X chromosome, a human sex chromosome, has been removed and replaced by a copy of a much larger section of genetic material from chromosome 2. Alterations of such large regions of genetic code that stably pass from one generation to the next are generally rare and have never before been observed in the human X chromosome.

The study was led by scientists at Oxford University in England and included researchers from Washington University School of Medicine and Shriners Hospital for Children in St. Louis.

In the long term, the disorder's links to blood calcium levels and parathyroid hormone secretion may someday help scientists seeking to develop new treatments for osteoporosis. For now, though, the findings almost bring to a close a decades-long investigation into the disorder that has plagued two Missouri families for generations.

"So far, XLHPT has only been observed in these two eastern Missouri families and it only affects males--the females are carriers," says Michael Whyte, M.D., professor of medicine, pediatrics and of genetics at Washington University School of Medicine. "Seizures and death within a month of birth is a dramatic set of symptoms, so if this problem had ever developed anywhere else in the world, it seems likely that it would have been reported."

The findings appear in the October issue of The Journal of Clinical Investigation.

XLHPT has likely affected family members at least since the 19th century and was initially described in 1960 by Virginia Peden, a faculty member at Saint Louis University. Although there initially
'"/>

Contact: Michael C. Purdy
purdym@wustl.edu
314-286-0122
Washington University School of Medicine
19-Oct-2005


Page: 1 2 3

Related biology news :

1. Kansas, Missouri School Board members to explore improvements in science-related education
2. MU researchers to study the status of black bears in Missouri
3. Missouris African-American mothers more likely to deliver prematurely
4. Diverse genetic abnormalities lead to NF-κB activation in multiple myeloma
5. Does the desire to consume alcohol and tobacco come from our genetic makeup?
6. Almac Diagnostics announces pioneering genetic research on ductal carcinoma in situ
7. Penn researchers discover pathway that eliminates genetic defects in red blood cells
8. Identifying the mechanism behind a genetic susceptibility to type 2 diabetes
9. After a decades-long search, scientists identify new genetic risk factors for multiple sclerosis
10. Discoverer of Sly Syndrome finds way of delivering medicine to fight rare genetic disorder
11. Identified main genetic variants involved in response to HIV

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


(Date:7/20/2017)... -- Delta (NYSE: DAL ) customers now can use fingerprints ... Washington National Airport (DCA). ... Delta launches biometrics to board aircraft at Reagan Washington National ... Delta,s biometric boarding pass experience that launched ... into the boarding process to allow eligible Delta SkyMiles Members who are ...
(Date:5/23/2017)... first robotic gym for the rehabilitation and functional motor sense evaluation of ... Italy . The first 30 robots will be available from June ... . The technology was developed and patented at the IIT laboratories and ... thanks to a 10 million euro investment from entrepreneur Sergio Dompè. ... ...
(Date:4/24/2017)... WASHINGTON , April 24, 2017 ... counsel and partner with  Identity Strategy Partners, LLP ... "With or without President Trump,s March 6, ... Foreign Terrorist Entry , refugee vetting can be instilled ... refugee resettlement. (Right now, all refugee applications are ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ... will be hosting a Webinar titled, “Pathology is going digital. Is your lab ... digital pathology adoption best practices and how Proscia improves lab economics and realizes ...
(Date:10/11/2017)... , ... October 11, 2017 , ... Disappearing forests and ... lives of over 5.5 million people each year. Especially those living in larger cities ... Treepex - based in one of the most pollution-affected countries globally - decided to ...
(Date:10/10/2017)... ... October 10, 2017 , ... San Diego-based team building ... corporate rebranding initiative announced today. The bold new look is part of a ... company moves into a significant growth period. , It will also expand its service ...
(Date:10/10/2017)... ... ... Dr. Bob Harman, founder and CEO of VetStem Biopharma, Inc. spent ... entitled “Stem Cells and Their Regenerative Powers,” was held on August 31st, 2017 ... joined by two human doctors: Peter B. Hanson, M.D., Chief of Orthopedic Surgery, Grossmont ...
Breaking Biology Technology:
Cached News: