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:


(Date:3/30/2017)... KONG , March 30, 2017 The ... a system for three-dimensional (3D) fingerprint identification by adopting ground breaking ... into a new realm of speed and accuracy for use in ... at an affordable cost. ... ...
(Date:3/29/2017)... March 29, 2017  higi, the health IT company ... North America , today announced a Series ... acquisition of EveryMove. The new investment and acquisition accelerates ... tools to transform population health activities through the collection ... higi collects and secures data today on ...
(Date:3/27/2017)... ROCKVILLE CENTRE, N.Y. , March 27, 2017 ... by Healthcare Information and Management Systems Society (HIMSS) ... Analytics Outpatient EMR Adoption Model sm . In ... top 12% of U.S. hospitals using an electronic ... recognized CHS for its high level of EMR ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... BioMedGPS announces ... addition of its newest module, US Hemostats & Sealants. , SmartTRAK’s US Market ... hemostats, fibrin sealants, synthetic sealants and biologic sealants used in surgical applications. BioMedGPS ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... launched Rosalind™, the first-ever genomics analysis platform specifically designed for life science ... in honor of pioneering researcher Rosalind Franklin, who made a major contribution ...
(Date:10/11/2017)... ... October 11, 2017 , ... The CRISPR-Cas9 ... enabling overexpression experiments and avoiding the use of exogenous expression plasmids. The simplicity ... for performing systematic gain-of-function studies. , This complement to loss-of-function studies, such ...
(Date:10/11/2017)... ... October 11, 2017 , ... ComplianceOnline’s Medical Device Summit ... 7th and 8th June 2018 in San Francisco, CA. The Summit brings together current ... several distinguished CEOs, board directors and government officials from around the world to address ...
Breaking Biology Technology:
Cached News: