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:10/14/2014)... research team has discovered a new kind of stem cell ... that lines liver blood vessels, according to a study published ... existence of such a cell type contradicts current theory on ... may hold clues to origins of, and future treatment for, ... single cell into a complex being made up of more ...
(Date:10/14/2014)... LA JOLLA, CA – October 14, 2014 – Scientists ... $6.6 million from the National Institutes of Health (NIH) ... most prevalent virus-induced hemorrhagic fever disease in Africa. The ... disease and why some patients die, while others survive ... researchers to understand the basic mechanism of how Lassa ...
(Date:10/14/2014)... researchers, led by the Chinese Academy of Agricultural Sciences ... a brief genomic history of tomato breeding, based ... , The C.M. Rick Tomato Genetics Resource Center at ... by providing seed of both cultivated tomato varieties and ... the first tomato genome sequence completed just two years ...
Breaking Biology News(10 mins):Stem cell discovery challenges dogma on how fetus develops; holds insights for liver cancer and reg 2Stem cell discovery challenges dogma on how fetus develops; holds insights for liver cancer and reg 3Scripps Research Institute team receives $6.6 million to investigate deadly Lassa virus 2
(Date:10/19/2014)... The Latin American hardware encryption display market report defines ... and forecast of revenue. This market was valued at ... $2,366.8 million by 2018, at a CAGR of 70.3% ... of the Latin American hardware encryption market report to ... also provides a glimpse of the segmentation of the ...
(Date:10/19/2014)... The Asian Automatic patient billing report defines ... forecast of revenue. The Automatic patient billing market in ... by 2018, at a developing CAGR of 7.2% from ... the Asian Automatic patient billing market, to get an ... a glimpse of the segmentation of this market in ...
(Date:10/19/2014)... The report "Unmanned Ground Vehicle Market ... Payload, Type & by Geography - Forecasts & ... ground vehicle market into various sub segments with ... The report also identifies the factors driving this ... with the adoption trends. , The unmanned ground ...
(Date:10/18/2014)... The report "1,6-Hexanediol Market by Application and ... analyzes the global market on the basis of ... details such as the key drivers, current trends ... Browse 81 Market Data Tables and 29 Figures ... “1,6-Hexanediol Market by Application and by Geography - ...
Breaking Biology Technology:The Latin American hardware encryption display market is expected to reach $2,366.8 million by 2018 - New Report by MicroMarket Monitor 2The Latin American hardware encryption display market is expected to reach $2,366.8 million by 2018 - New Report by MicroMarket Monitor 3The Asian Automatic patient billing market is estimated to grow to around $463.9 million by 2018 - New Report by MicroMarket Monitor 2The Asian Automatic patient billing market is estimated to grow to around $463.9 million by 2018 - New Report by MicroMarket Monitor 3Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 2Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 3Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 4Unmanned Ground Vehicle (UGV) Market Estimated to Reach $8.26 Billion by 2020 - New Research Report by MarketsandMarkets 51,6-Hexanediol Market Projected to Reach $916.1 Million at a CAGR of 8.3% by 2019 – Report by MarketsandMarkets 21,6-Hexanediol Market Projected to Reach $916.1 Million at a CAGR of 8.3% by 2019 – Report by MarketsandMarkets 31,6-Hexanediol Market Projected to Reach $916.1 Million at a CAGR of 8.3% by 2019 – Report by MarketsandMarkets 41,6-Hexanediol Market Projected to Reach $916.1 Million at a CAGR of 8.3% by 2019 – Report by MarketsandMarkets 5
Cached News: