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:1/6/2017)... 2017  Privately-held CalciMedica, Inc., announced that it ... of a novel calcium release-activated calcium (CRAC) channel ... Acute pancreatitis, sudden painful inflammation of ... can be very serious.  In severe cases it can ... hospital stays, time in the ICU and substantial ...
(Date:1/4/2017)... VEGAS , Jan. 4, 2017  CES ... performance biometric sensor technology, today announced the launch ... sensor systems, the highly-accurate biometric sensor modules ... biometric technology, experience and expertise. The two ... Benchmark designed specifically for hearables, and Benchmark BW2.0, ...
(Date:12/20/2016)... Dec. 20, 2016 The rising popularity ... and leasing is stoking significant interest in keyless ... technology, Bluetooth low energy (BLE), biometrics and near-field ... next wave of wireless technologies in the automotive ... to advanced access systems opens the market to ...
Breaking Biology News(10 mins):
(Date:1/20/2017)... ... January 20, 2017 , ... ... announced today the next evolution in spinal fusion, the MISquito Percutaneous Pedicle ... to the competition, SpineFrontier is focused on technique driven product solutions that ...
(Date:1/19/2017)... LOUISVILLE, Ky. and HOUSTON ... Prenatal Inc. ("NX Prenatal") today announced the formation ... brings together leading clinicians and industry veterans who ... the company as it accelerates development of its ... positioned to provide medical, clinical and strategic guidance ...
(Date:1/19/2017)... Switzerland (PRWEB) , ... January ... ... provider of advanced software solutions for pharmaceutical research and development (R&D), today ... expertise in omic data analysis and interpretation for the rapidly evolving field ...
(Date:1/19/2017)... Jan. 19, 2017  ArmaGen, Inc., today announced ... Ph.D., as chief executive officer, as well as ... brings to ArmaGen more than 17 years of ... development of biotherapeutics and pharmaceuticals. ... diverse experience and skillset necessary to lead ArmaGen ...
Breaking Biology Technology:
Cached News: