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:2/28/2017)... BARCELONA , Spanien, 27. Februar 2017 /PRNewswire/ ... durch Iris-Scan, wird seine erstklassige biometrische Lösung ... Snapdragon™ 835 mit X16 LTE auf dem ... 2. März) am Qualcomm-Stand in Halle 3, ... 835-Prozessor beinhaltet die Sicherheitsplattform Qualcomm Haven™ – ...
(Date:2/24/2017)... , Feb. 24, 2017  EyeLock LLC, a leader of ... elite iris biometric solution on the latest Qualcomm® ... at Mobile World Congress 2017 (February 27 ... in Hall 3, Stand 3E10. ... Haven™ security platform—a combination of hardware, software ...
(Date:2/21/2017)... -- Der weltweite Biobanking-Sektor wird bis zum ... mit mehr als 50 Vertretern aus verschiedenen Branchen wurde aber ... diese Prognose zu realisieren. ... Zu den Schwierigkeiten für ... für die Biobank, die Implementierung Zeit sparender Technologien, ein ...
Breaking Biology News(10 mins):
(Date:3/28/2017)... WASHINGTON , March 28, 2017 /PRNewswire/ ... launch single-cell sequencing during the American Association for Cancer ... Convention Center in Washington, D.C. , ... differential gene expression of thousands of cells at the ... Experts on-hand at AACR to discuss ...
(Date:3/28/2017)... 28, 2017 Biostage, Inc. (Nasdaq: ... bioengineered organ implants to treat cancers and other life-threatening ... that Jim McGorry, CEO of Biostage, will ... panel at the MassBio 2017 Annual Meeting ... in Cambrige, Massachussetts. The 3D Printing and BioEngineering ...
(Date:3/28/2017)... March 28, 2017 /PRNewswire/ -RepliCel Life Sciences Inc. (OTCQB: REPCF) ... report compelling safety and clinical data from its phase 1/2 ... collagen-expressing, hair follicle-derived fibroblasts (RCT-01) as a treatment for Achilles ... ... complete safety profile at 6 months and showed no serious ...
(Date:3/27/2017)... Cousins Properties (NYSE: CUZ ) announced today that ... a 10-year, approximately 125,000 square-foot lease at Corporate Center, a ... Westshore submarket of Tampa, FL. ... Center for their new location in Tampa ... officer of Cousins Properties. "Amgen is a cutting-edge global company ...
Breaking Biology Technology:
Cached News: