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:11/21/2014)... 20, 2014   Atmel® Corporation (NASDAQ: ... and touch technology solutions, today launched the industry,s first ... the widest V cc range from 1.7V to ... faster I 2 C bus communication speeds, and are ... making them ideal for consumer, industrial, computer, and medical ...
(Date:11/15/2014)... NEW YORK , Nov. 13, 2014  While we ... of technology Doctor McCoy used in "Star Trek" to gain ... and tools designed to work with smartphones and tablets for ... corners of the healthcare world. This may seem a tad ... are ready to adopt some of these technological opportunities into ...
(Date:11/7/2014)... conjunction with the Glendale and ... the Verdugos has announced the " GLENDALE - ... to keep the Verdugo Regional Crime Lab operational after its ... existence, the Lab has processed more than 400 DNA samples, ... "Because our number one priority is the wellbeing of ...
Breaking Biology News(10 mins):Atmel Launches Industry's First Wide-V(cc) Low-Power Temperature Sensor Family 2Atmel Launches Industry's First Wide-V(cc) Low-Power Temperature Sensor Family 3Atmel Launches Industry's First Wide-V(cc) Low-Power Temperature Sensor Family 4Americans May Be Ready for a Brave New World of Healthcare 2Americans May Be Ready for a Brave New World of Healthcare 3Americans May Be Ready for a Brave New World of Healthcare 4Community Foundation Of The Verdugos Unveils Campaign To Fund Glendale-Burbank DNA Justice Project 2
(Date:11/22/2014)... CannLabs, Inc. (OTCQB: CANL), the ... testing methodologies relating to cannabis, today announced that it ... credit from an existing stockholder of the Company. ... commitment from one of our existing stockholders,” stated ... will help accelerate our planned expansions into the Connecticut ...
(Date:11/22/2014)... (PRWEB) November 22, 2014 Respiratory ... simulate the proper management of life-like respiratory ailments ... lung devices . Grand Rapids-based, Michigan Instruments Inc. ... donate two of the respiratory simulation units to ... each. Grand Valley and Muskegon Community College are ...
(Date:11/21/2014)...   TRU-D SmartUVC LLC and its UK partners, ... disinfection robot, TRU-D SmartUVC, at FIS 2014 in ... 26 at Stand 23. The conference, hosted by ... largest infection-related event of its kind and brings ... the leading events of its type throughout the world. This ...
(Date:11/21/2014)... Alto, Calif. (PRWEB) November 20, 2014 ... a nonprofit, public policy research organization representing leading ... pharmaceutical firms, and PwC US today ... states in life sciences industry growth. The trend ... 2013. The 2015 California Biomedical Industry Report ...
Breaking Biology Technology:CannLabs Secures $750,000 Line Of Credit 2Michigan Instruments Donates Two Respiratory Simulation Training and Test Lung (TTL) Devices to Grand Valley State University 2Michigan Instruments Donates Two Respiratory Simulation Training and Test Lung (TTL) Devices to Grand Valley State University 3TRU-D SmartUVC to Showcase Superbug-Killing Robot at FIS 2014 2TRU-D SmartUVC to Showcase Superbug-Killing Robot at FIS 2014 3California Healthcare Institute and PwC Report Boom in California’s Biomedical Industry 2California Healthcare Institute and PwC Report Boom in California’s Biomedical Industry 3California Healthcare Institute and PwC Report Boom in California’s Biomedical Industry 4
Cached News: