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:4/11/2017)... , April 11, 2017 Crossmatch®, a ... authentication solutions, today announced that it has been ... Research Projects Activity (IARPA) to develop next-generation Presentation ... "Innovation has been a driving force ... program will allow us to innovate and develop ...
(Date:4/11/2017)... -- NXT-ID, Inc. (NASDAQ:   NXTD ) ("NXT-ID" ... of independent Directors Mr. Robin D. Richards and ... furthering the company,s corporate governance and expertise. ... Gino Pereira , Chief Executive Officer ... guidance and benefiting from their considerable expertise as we move ...
(Date:4/5/2017)... 2017 Today HYPR Corp. , leading ... component of the HYPR platform is officially FIDO® ... security architecture that empowers biometric authentication across Fortune 500 ... secured over 15 million users across the financial services ... home product suites and physical access represent a growing ...
Breaking Biology News(10 mins):
(Date:10/7/2017)... ... October 06, 2017 , ... ... its ProxiMeta™ Hi-C metagenome deconvolution product, featuring the first commercially available Hi-C ... software to perform Hi-C metagenome deconvolution using their own facilities, supplementing the ...
(Date:10/6/2017)... ... October 06, 2017 , ... ... the healthcare and technology sector at their fourth annual Conference where founders, investors, ... inspiring speakers and the ELEVATE pitch competition showcasing early stage digital health and ...
(Date:10/5/2017)... ... October 05, 2017 , ... LabRoots , the leading ... around the world, is giving back to cancer research with a month-long promotion supporting ... Now through October 31, shoppers can use promo code PinkRibbon to get 10 percent ...
(Date:10/5/2017)... , ... October 05, 2017 , ... ... develop new applications of its Nanobind DNA/RNA extraction technology . Nanobind is ... silica on the surface and that can be used for a wide variety ...
Breaking Biology Technology:
Cached News: