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:12/6/2016)... 2016 Securus Technologies, a leading provider ... public safety, investigation, corrections and monitoring, and the ... five (5) year funding commitment by Securus to ... rehabilitation and reentry support to more inmates and ... 2004, the Prison Entrepreneurship Program (PEP) is an ...
(Date:12/2/2016)... , December 1, 2016 ... (Fingerprint, Voice), Future Technology (Iris Recognition System), Vehicle ... - Global Forecast to 2021", published by MarketsandMarkets, ... Million in 2016, and is projected to grow ... CAGR of 14.06%.      (Logo: http://photos.prnewswire.com/prnh/20160303/792302) ...
(Date:11/30/2016)... WARSAW, Poland , Nov. 30, 2016 Not many of us realize ... crucial aspects of recovery so we need to do it well. Inadequate sleep levels ... problems, high blood pressure, stroke, diabetes, and even cancer. Maybe now is ... Christmas present that could help them to manage their sleep quality? ... ...
Breaking Biology News(10 mins):
(Date:12/7/2016)... report "Acrylic Processing Aid Market by Polymer Type (PVC), Fabrication Process (Extrusion, Injection Molding), End-Use ... published by MarketsandMarkets, the global market size was USD 645.4 Million in 2016, ... CAGR of 6.2% between 2016 and 2026. Continue ... ... , , ...
(Date:12/7/2016)... 2016  Genprex, Inc. a biopharmaceutical company focused ... today announced that it has retained ICR Healthcare, ... communications and advisory firm, to develop and implement ... combine investor relations, public relations and digital communications ... of Genprex and its lead candidate Oncoprex, which ...
(Date:12/7/2016)... and ANN ARBOR, Mich. , ... biopharmaceutical company developing breakthrough immune modulatory medicines, announced today ... the Company,s lead therapeutic candidate, LYC-30937- E nteric ... a debilitating skin disease that is estimated to affect ... United States , with approximately 1.5 - 3 ...
(Date:12/7/2016)... CA (PRWEB) , ... December 07, 2016 , ... ... wastewater treatment and resource recovery solutions for industrial facilities, today announced that one ... be the first to use Cambrian’s novel water-energy purchase agreement (WEPA). Under the ...
Breaking Biology Technology:
Cached News: