Navigation Links
The Bachmann-Strauss Dystonia & Parkinson Foundation: New Study Identifies Gene Mutations as Cause of Dystonia in Amish-Mennonite Families
Date:2/3/2009

Breakthrough findings contribute to better understanding of little-known disease and may lead to development of new therapies

NEW YORK, Feb. 3 /PRNewswire/ -- A new research study has identified mutations in the THAP1 gene as a cause of primary torsion dystonia (DYT6 type) in Amish-Mennonite families and cited a second mutation in a non-Mennonite family showing that THAP1 causes dystonia in other ethnic groups.

A paper entitled "Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia" was published February 1, 2009 on-line in the journal Nature Genetics. Co-investigators on the study are Susan Bressman, MD, chair, Department of Neurology, Beth Israel Medical Center, and Laurie Ozelius, PhD, Associate Professor, and Bachmann-Strauss Professor, Mount Sinai School of Medicine, New York City.

This new body of research also revealed that the THAP1 gene has DNA binding and apoptosis (or cell death) functions, neither of which were previously associated with primary torsion dystonia. In addition it showed that the mutations in THAP1 can impair DNA binding. The protein encoded by THAP1 is predicted to bind DNA near the start site of other genes and then turn on or off the expression of those genes. Since there are a number of factors that come into play in addition to this "transcription factor", a mutation that impairs DNA binding could upset that balance and, as a consequence, turn other genes on or off, contributing to dystonia.

"The DNA binding function attributed to this gene has not previously been associated with dystonia. The discovery of this gene could help us develop new treatments in the future to prevent this debilitating disease," said Dr. Ozelius.

This is the second gene identified for primary torsion dystonia. The first, discovered ten years ago, was the DYT1 gene which was found to be mutated in most people with early onset dystonia.
'/>"/>

SOURCE The Bachmann-Strauss Dystonia & Parkinson Foundation
Copyright©2009 PR Newswire.
All rights reserved

Page: 1 2

Related medicine news :

1. Stimulating muscles may improve musicians dystonia
2. Novel Techniques Offers New Freedom to Patients with Parkinson's Disease, Epilepsy, Dystonia, and Tremor
3. Decreased activity of basal ganglia is the main cause of abnormal muscle constrictions in dystonia
4. Study suggests loss of 2 types of neurons -- not just 1 -- triggers Parkinsons symptoms
5. Gene Mutation Linked to Parkinsons Disease
6. Parkinsons Linked to Risk of Alzheimers
7. XShares Supports Parkinsons Disease Foundation 50th Anniversary Educational Symposium
8. Parkinsons Institute research shows that nicotine reduces levodopa-induced dyskinesias
9. NSAIDs Protect Against Parkinsons Disease
10. Ceregene Completes Enrollment of Phase 2 Clinical Trial for Parkinsons Disease
11. Relatives of Parkinsons Patients at Higher Psychiatric Risk
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/20/2014)... 2014 Women’s health specialist, Dr. Amber ... Gynecology of Columbus, Inc., A Division of MaternOhio Clinical ... more than 100,000 patients annually. Dr. Murphy will provide ... stages of a women’s life. She is accepting new ... Westerville and Dublin. , Dr. Murphy offers a wide ...
(Date:10/20/2014)... Angeles, CA (PRWEB) October 20, 2014 ... fitness expertise, nutritional coaching, corporate wellness programming, authorship, international ... CPT, is excited to announce the release of the ... , After many years of coaching thousands of individuals ... nutrition tracking app that does not require calorie counting ...
(Date:10/20/2014)... Myoderm announced today the ... their CentralSource service. Matthew will play ... drug sourcing, distribution, and management service for international ... of industry experience, in both business development and ... their international success to help clients manage their ...
(Date:10/20/2014)... (PRWEB) October 20, 2014 National Teen Driver ... of the American Academy of Pediatrics (Ohio AAP, http://www.ohioaap.org ... in encouraging parents of teen drivers to talk to their ... road. , Motor vehicle crashes are the leading cause of ... drivers involved in fatal crashes, and 859 (42%) of those ...
(Date:10/20/2014)... Punzoné , the first line of ... a lot to celebrate this month. October marks Italian Heritage ... and contributions of Americans of Italian heritage and Italians in ... it shares its favorite Italian cocktails and encourages everyone to ... even if it is only in a glass. , ...
Breaking Medicine News(10 mins):Health News:OhioHealth Welcomes New Women’s Health Specialist to MaternOhio Specialists in Obstetrics & Gynecology of Columbus, Inc. 2Health News:OhioHealth Welcomes New Women’s Health Specialist to MaternOhio Specialists in Obstetrics & Gynecology of Columbus, Inc. 3Health News:JZ Fitness Nutrition App Launches on iTunes 2Health News:JZ Fitness Nutrition App Launches on iTunes 3Health News:Myoderm Hires Matthew Voicheck to Lead Turnkey Drug Sourcing Service 2Health News:Ohio AAP Promotes National Teen Driver Safety Week 2Health News:Celebrate Italian Heritage Month With Authentic Cocktails from Punzoné: The Only Ultra Premium Line of Organic Imported Italian Vodka 2Health News:Celebrate Italian Heritage Month With Authentic Cocktails from Punzoné: The Only Ultra Premium Line of Organic Imported Italian Vodka 3Health News:Celebrate Italian Heritage Month With Authentic Cocktails from Punzoné: The Only Ultra Premium Line of Organic Imported Italian Vodka 4
... of Illinois at Chicago have discovered a possible target ... can invade the bloodstream, which can lead to severe ... 750,000 people affected in the United States each year, ... Care Medicine. , "The growth of bacterial pathogens in ...
... study provides valuable insight into a previously undescribed ... research, published by Cell Press in the February ... of the fundamental processes that contribute to breast ... receptor coactivator-3 (SRC-3/AIB1) plays key roles in cell ...
... Rutgers have unlocked some of the mysteries of how ... of vitamin A present in the maternal blood stream. ... of the Journal of Biological Chemistry. , The ... facilitates the formation of vitamin A stores in the ...
... Seventh Annual American Red Cross National Celebrity Cabinet ... Cross Initiatives, WASHINGTON, Feb. 28 The ... Cabinet with fifteen new,members, Emmy Award winner Patricia ... Garth, actor Masi Oka, pro skateboarder Tony Hawk, ...
... people to stay active, helps reduce arthritis ... pain through ... today a,partnership with McNeil Consumer Healthcare, the maker of TYLENOL(R),Arthritis Pain, ... reduce arthritis pain. Through this new collaboration,participating YMCAs will introduce members ...
... The Geriatric Oncology,Consortium ("The GOC") announced today that ... to the Tampa Bay area., The GOC, a ... and educational network of Oncology healthcare,providers with a mission ... raise awareness and funds for this effort, the GOC ...
Cached Medicine News:Health News:Researchers find possible target to treat deadly bloodstream infections 2Health News:Atypical protein kinase C stabilizes SRC-3 levels in breast cancer cells 2Health News:Rutgers researchers unlock mysteries of vitamin A metabolism during embryonic development 2Health News:Rutgers researchers unlock mysteries of vitamin A metabolism during embryonic development 3Health News:Celebrities Join the American Red Cross in 2008 to Help Change Lives 2Health News:Celebrities Join the American Red Cross in 2008 to Help Change Lives 3Health News:Celebrities Join the American Red Cross in 2008 to Help Change Lives 4Health News:YMCA of the USA and McNeil Consumer Healthcare Partner to Promote Health for Older Adults 2Health News:YMCA of the USA and McNeil Consumer Healthcare Partner to Promote Health for Older Adults 3Health News:Geriatric Oncology Consortium (GOC) Announces Tampa Bay Road Rally to Raise Awareness for the Treatment of Seniors With Cancer 2
(Date:10/19/2014)... Shire plc (LSE: SHP, NASDAQ: ... Officer (CFO), has notified the Board of Directors of his decision ... career opportunity as CFO of Severn Trent plc.  James will leave ... commence a search for a new CFO immediately. Flemming ... build and lead a high-quality finance team at Shire. We are ...
(Date:10/17/2014)... CHAPEL HILL, N.C. , Oct. 17, 2014 ... healthcare landscape, the Medical Affairs function has come ... metrics, allocating resources efficiently and managing globalization.  ... at Best Practices, LLC is dedicated to providing ... issues. The Medical Affairs Consortium is a service ...
(Date:10/17/2014)... , October 17, 2014 ... ) has announced the addition of the  ... to their offering.       (Logo: ... disease in China ... changes in consumption concept, dietary habit, way ...
Breaking Medicine Technology:Interim Chief Financial Officer James Bowling to Step Down 2Interim Chief Financial Officer James Bowling to Step Down 3Interim Chief Financial Officer James Bowling to Step Down 4Early Key Findings from the Medical Affairs Consortium Research 2China Interventional Cardiovascular Device Industry Report 2014-2017 2China Interventional Cardiovascular Device Industry Report 2014-2017 3
Claes Shielded Retinotomy Scissors, Vertical...
... DxSelect is intended for qualitatively detecting antibodies ... serum. The test is indicated for testing ... an aid in the presumptive laboratory diagnosis ... intended for self-testing, and this test is ...
... Indirect immunofluorescent antibody (IFA) test for ... IgG antibodies to St. Louis Encephalitis virus ... Equine Encephalitis virus (EEE), and California Encephalitis/La ... 8-well slides with fixed individual spots of ...
... immunofluorescent antibody (IFA) test ... semi-quantitation of human serum ... viral capsid antigen (VCA). ... 12-well slides, FITC IgG ...
Medicine Products: