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:
TAG: Missouri genetic disorder roots untangled international team

(Date:7/7/2015)... , July 7, 2015  Based on ... Frost & Sullivan recognizes Credence ID, LLC with ... Entrepreneurial Company of the Year Award. Credence ID ... aid in its mission of offering enrollment and ... globally. As Credence ID was formed by experts ...
(Date:7/2/2015)... , June 25, 2015 ... the addition of the "Natural Language Processing ... (Recognition, IVR, OCR, Pattern & Image Recognition) - ... offering. The key vendors occupying the ... IBM Corporation, Microsoft Corporation, NetBase Solutions, SAS Institute ...
(Date:7/2/2015)... 2, 2015 Fingerprint Cards has received ... and FPC1155 from the distributor World Peace Industrial Group (WPI), ... in Asia . Deliveries are planned to ... be used by smartphone manufacturers in Asia ... the communicated revenue guidance of approximately 2,200 MSEK for 2015. ...
Breaking Biology News(10 mins):Frost & Sullivan Acknowledges the Distinctive Customer-focused Attributes of Credence ID's Mobile Biometric Product Suite 2Frost & Sullivan Acknowledges the Distinctive Customer-focused Attributes of Credence ID's Mobile Biometric Product Suite 3Frost & Sullivan Acknowledges the Distinctive Customer-focused Attributes of Credence ID's Mobile Biometric Product Suite 4Frost & Sullivan Acknowledges the Distinctive Customer-focused Attributes of Credence ID's Mobile Biometric Product Suite 5Natural Language Processing Market by Type (Rule-Based, Statistical, and Hybrid), Technologies (Recognition, IVR, OCR, Pattern & Image Recognition) - Worldwide Forecast to 2020 2FPC Receives Order for Touch Fingerprint Sensors of 268 MSEK 2
(Date:7/30/2015)... HIGHLIGHTS:Q2 2015 Results (all changes ... Reported sales were $697 million compared to $701 million ... by 8%, and changes in foreign currency exchange rates ... 1%. , By business unit, organic sales growth ... in SAFC Commercial. , Reported diluted EPS was ...
(Date:7/29/2015)... July 30, 2015 Sanofi, ... publie ses résultats pour le premier semestre 2015. ... les résultats. Visionner l,interview vidéo et ... Au sommaire de l,interview :  ... Moteurs de croissance - Diabète ...
(Date:7/29/2015)...  HealthSouth Corporation (NYSE: HLS ), one ... services, offering both facility-based and home-based post-acute services, ... second quarter ended June 30, 2015. ... growth in both segments and an 11.0% increase ... and Chief Executive Officer of HealthSouth. "While reported ...
(Date:7/29/2015)... 29, 2015  AmnioChor Inc., an early stage biotech ... pleased to announce that the Musculoskeletal Transplant Foundation of ... invest in their seed round of development of the ... capabilities. AmnioChor,s technology allows cryopreservation of ... stem cells living within those tissues. Amnion is a ...
Breaking Biology Technology:Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 2Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 3Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 4Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 5Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 6Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 7Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 8Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 9Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 10Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 11Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 12Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 13Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 14Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 15Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 16Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 17Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 18Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 19Sigma-Aldrich (NASDAQ - SIAL) Reports Q2 2015 Sales Of $697 Million And Adjusted Diluted EPS Of $1.01 20HealthSouth Reports Results for Second Quarter 2015 2HealthSouth Reports Results for Second Quarter 2015 3HealthSouth Reports Results for Second Quarter 2015 4HealthSouth Reports Results for Second Quarter 2015 5HealthSouth Reports Results for Second Quarter 2015 6HealthSouth Reports Results for Second Quarter 2015 7HealthSouth Reports Results for Second Quarter 2015 8HealthSouth Reports Results for Second Quarter 2015 9HealthSouth Reports Results for Second Quarter 2015 10HealthSouth Reports Results for Second Quarter 2015 11HealthSouth Reports Results for Second Quarter 2015 12HealthSouth Reports Results for Second Quarter 2015 13HealthSouth Reports Results for Second Quarter 2015 14HealthSouth Reports Results for Second Quarter 2015 15HealthSouth Reports Results for Second Quarter 2015 16HealthSouth Reports Results for Second Quarter 2015 17
Cached News: