HOME >> BIOLOGY >> NEWS
Researchers determine genetic cause of Timothy syndrome

Howard Hughes Medical Institute researchers have pinpointed the genetic cause of a devastating but rare childhood disorder, called Timothy syndrome, which underlies a form of severe cardiac arrhythmia.

The research shows that children who have the syndrome develop spontaneous genetic mutations that interfere with calcium channels that regulate the excitation and contraction of the heart. In defining the precise nature of the molecular abnormality, however, the researchers have also identified a class of drugs that they hope will alleviate the arrhythmia.

Timothy syndrome may also cause a form of autism in those affected, and there is the possibility that understanding more about the nature of these calcium channel defects could improve understanding of autism, which affects 200,000 to 400,000 children in the United States. Calcium channels are pore-like proteins that nestle in cell membranes and control the flow of calcium into and out of the cell. Calcium is one of the most important signaling molecules in the body, and perturbing calcium transport can cause a wide range of disorders.

Howard Hughes Medical Institute investigator Mark T. Keating and his colleagues reported in the October 1, 2004, issue of the journal Cell, that a pinpoint mutation in the CaV1.2 calcium channel was the sole cause of Timothy syndrome. Keating collaborated on the studies with researchers from Children's Hospital, Boston, Harvard Medical School, the University of Utah, the University of Pavia in Italy and the Boston University School of Medicine.

The scientific path that led to the identification of the cause of Timothy syndrome began in 1989 with the identification of a single child with the then nameless disorder by Katherine W. Timothy of the University of Utah. That child presented with cardiac arrhythmia and a webbing, or syndactyly, of the hands and feet characteristics of what has now come to be called Timothy syndrome in honor of Kather
'"/>

Contact: Jim Keeley
keeleyj@hhmi.org
301-215-8858
Howard Hughes Medical Institute
30-Sep-2004


Page: 1 2 3

Related biology news :

1. Researchers find color sensitive atomic switch in bacteria
2. Researchers identify protein promoting vascular tumor growth
3. Researchers devise potent new tools to curb ivory poaching
4. Researchers create nanotubes that change colors, form nanocarpet and kill bacteria
5. Researchers ID chlorophyll-regulating gene
6. Researchers develop fast track way to discover how cells are regulated
7. Researchers identify distinctive signature for metastatic prostate cancer
8. Researchers report new gene test for isolated cleft lip and palate
9. Researchers discover why mutant gene causes colon cancer
10. Researchers identify the genomes controlling elements
11. Researchers improve detection of diverse anthrax strains

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:3/29/2017)... , March 29, 2017  higi, the health IT ... North America , today announced a ... the acquisition of EveryMove. The new investment and acquisition ... of tools to transform population health activities through the ... data. higi collects and secures data today ...
(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 ...
(Date:3/24/2017)... Research and Markets has announced the addition of the "Global ... to 2025" report to their offering. ... The Global Biometric Vehicle Access System Market ... the next decade to reach approximately $1,580 million by 2025. ... for all the given segments on global as well as regional ...
Breaking Biology News(10 mins):
(Date:7/27/2017)... ... July 27, 2017 , ... ... businesses to participate in Lajollacooks4u’s popular corporate team building events this summer. ... in Lajollacooks4u’s signature olive oil competition to whet their palettes. Three teams ...
(Date:7/26/2017)... ... July 26, 2017 , ... ... worldwide rights to SQuEEZ heart function analysis software, and an associated pending patent ... was filed April 10, 2014 and uses high resolution cardiac CT to analyze ...
(Date:7/26/2017)... Biosciences Inc., a world leading specialty CRO announced the publication ... early stage (latent) Mycobacterium tuberculosis (Mtb) infection using state-of-the-art ProteoCarta™, ... ... Caprion Biosciences Inc. (CNW Group/Caprion Biosciences) ... The new data, recently published in EbioMedicine ...
(Date:7/26/2017)... Ca (PRWEB) , ... July 25, 2017 , ... ... August 22, attendees will garner a better understanding of the considerations needed for ... CRISPR-Cas9 applications. , The use of CRISPR-Cas9 to create targeted double-strand breaks in ...
Breaking Biology Technology:
Cached News: