HOME >> BIOLOGY >> NEWS
Rare childhood genetic syndrome identified

Researchers at Children's Hospital Boston, Howard Hughes Medical Institute and the University of Utah have identified a rare, previously undiscovered genetic syndrome that is often fatal by the second year of life, but which may be treatable with calcium channel-blocking drugs. Findings are reported in the October 1 issue of the journal Cell.

The disease, named Timothy syndrome after one of the paper's authors, is characterized by a variety of problems including heart arrhythmias, congenital heart abnormalities, webbed hands and feet, a weakened immune system, cognitive abnormalities, and, surprisingly, autism. The researchers have identified 17 children with the syndrome, seven of whom were living.

Despite the complexity and severity of Timothy syndrome, the researchers show that it arises from a single, spontaneous, very subtle gene mutation in the mother's egg or father's sperm substitution of a single base pair. The reason so many body systems are affected is that mutation impairs a very fundamental molecule a type of calcium channel that is found in many tissues and organs.

Calcium channels control how much calcium can get inside a cell. Calcium is one of the body's most important signaling molecules, and normally, cellular calcium levels are tightly regulated. Dr. Mark Keating, senior author of the study and a Howard Hughes Medical Institute investigator at Children's Hospital Boston, likens the calcium channel to a screen door.

"After you go through the screen door, it automatically closes," he says. This mutation dismantles the automatic closing mechanism, so the door just stays open."

As a result, cells are overwhelmed by an influx of calcium. Because calcium-channel blocking drugs can ameliorate calcium overload, these medications may be useful for treating arrhythmia and cognitive deficits in individuals with Timothy syndrome, Keating says.

Experiments also showed that the gene encoding th
'"/>

Contact: Bess Andrews
elizabeth.andrews@childrens.harvard.edu
617-355-6420
Children's Hospital Boston
30-Sep-2004


Page: 1 2

Related biology news :

1. USC study links historical increases in life span to lower childhood exposure to infection
2. New research suggests early diet may play key role in protecting against childhood leukaemia
3. New research suggests link between maternal diet and childhood leukemia risk
4. New evidence of radiation risk in childhood leukaemia
5. Rising childhood leukaemia incidence prompts conference
6. Protein involved in childhood disorder linked to cancer
7. Preschool bolsters early childhood immunity, reduces risk of young adult Hodgkins lymphoma
8. Thimerosal, found in childhood vaccines, can increase the risk of autism-like damage in mice
9. Fox Chase discovery may help physicians diagnose, treat devastating childhood disease
10. Researchers find no link between alcohol consumption during pregnancy and asthma during childhood
11. Chromosome losses mean poor survival in childhood leukemia

Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Rare childhood genetic syndrome identified

(Date:4/27/2015)... , Apr. 27, 2015 NXT-ID, Inc. (NASDAQ: ... authentication company focused on the growing mobile commerce market, ... to pre-order customers the first week of May, 2015 ... month of May. Gino Pereira ... milestone for the company as Wocket® enters the consumer ...
(Date:4/20/2015)... 2015 The announcement comes as ... Records Management (GRM), Ireland,s foremost records ... Having built up an impressive track record of clients within ... within the records management sector in Dubai ... GCC staffbase and employ a further eight staff members at ...
(Date:4/13/2015)... YORK , April 13, 2015 ... by TechSci Research, "Global Biometrics Market Forecast & Opportunities, ... register a CAGR of around 14% till 2020. ... governments for large scale implementation and review of ... and launch of new products with greater efficiency, ...
Breaking Biology News(10 mins):Wocket, the Smartest Wallet You Will Ever Own, Announces Shipment to Pre-order Customers 2Wocket, the Smartest Wallet You Will Ever Own, Announces Shipment to Pre-order Customers 3Glenbeigh Records Management Wins Contract With Dubai Islamic Bank 2Glenbeigh Records Management Wins Contract With Dubai Islamic Bank 3Global Biometrics Market to Cross US$ 21 Billion by 2020: TechSci Research 2
(Date:5/28/2015)... , May 28, 2015 ... announced the addition of Jain PharmaBiotech,s new ... and Companies"  to their offering.  ... remains a challenge in management. With nearly ... the seven major markets of the world ...
(Date:5/28/2015)... 2015 Research ... the addition of Jain PharmaBiotech,s new ... and Companies"  to their offering.  ,     ... and evaluates animal biotechnology and its ... as well as improvement in food ...
(Date:5/28/2015)... 27, 2015 Research and Markets( http://www.researchandmarkets.com/research/6cg3zw/cell_therapy ... new report "Cell Therapy - Technologies, Markets ... This report describes and evaluates cell therapy technologies ... an important role in the practice of medicine. ... fashioned bone marrow transplants. Role of cells in ...
(Date:5/28/2015)... LAWRENCEVILLE, N.J. , May 28, 2015 ... announced that it has received commitments from two institutional ... million of the Company,s common stock in an at-the-market ... warrants to purchase common stock. The Company ... pursuant to which the Company agreed to sell an ...
Breaking Biology Technology:Global Alzheimer Disease Report 2015-2024 - New Drugs, Markets and Companies 2Global Alzheimer Disease Report 2015-2024 - New Drugs, Markets and Companies 3Global Animal Biotechnology Report 2015 - Technologies, Markets and Companies Analysis to 2024 2Global Animal Biotechnology Report 2015 - Technologies, Markets and Companies Analysis to 2024 3Global Cell Therapy Market 2015-2020 - Technologies, Markets and Companies 2Celsion Corporation Announces $8 Million At-The-Market Registered Direct Offering 2Celsion Corporation Announces $8 Million At-The-Market Registered Direct Offering 3
Cached News: