Navigation Links
Mayo Clinic finds new genetic cause of neurodegeneration
Date:5/1/2011

ROCHESTER, Minn. -- Mayo Clinic researchers have discovered two mutations responsible for a devastating neurological condition they first identified 15 years ago. The researchers say their study -- appearing in Nature Genetics -- has revealed a new neural pathway that may help understand a variety of similar conditions.

"We were able to do this now because of Next Generation genomic sequencing technology," says Christopher Klein, M.D., Mayo Clinic neurologist and lead author of the study. "We also had the invaluable help of our international collaborators who helped identify additional extended families with this condition, making the extensive genetic data available to us."

Called hereditary sensory and autonomic neuropathy type 1 (HSAN1) with dementia and hearing loss, its symptoms begin to appear in the young adult years -- 20 to 35 -- after which an individual's cognitive ability, hearing and ability to sense limbs deteriorate slowly. There is no treatment or cure. It was first identified and described by Peter Dyck, M.D., a senior Mayo neurologist and co-author of this current paper.

In addition to the original family studied by Dr. Dyck, Dr. Klein's team focused on DNA samples and data from three other family groups spanning the United States, Japan, the United Kingdom (U.K.) and Australia (the U.K. and Australian individuals are one family and the other U.S. family makes up the four). In addition to NextGen sequencing and subsequent bioinformatics studies, team members conducted intracellular and methylation studies. Ultimately, they discovered the mutations on the DNMT1 area cause misfolding of the enzyme, decreased enzyme activity and loss of chromatin binding. They also showed that even moderate alterations in methylation can disrupt normal neural functions, "suggesting that DNMT1 is part of a precise mechanism of dynamic regulation of the nervous system."

Because the condition worsens with age, the res
'/>"/>

Contact: Robert Nellis
newsbureau@mayo.edu
507-284-5005
Mayo Clinic
Source:Eurekalert

Page: 1 2

Related medicine news :

1. The West Clinic Joins Cancer Clinics of Excellence (CCE)
2. Stethoscope App gives iPhone New Clinical Skills
3. Mayo Clinic responsible for $22 billion in economic impact, including $9.6 billion in Minnesota
4. Sunquest Introduces Integrated Clinical Environment Physician Portal Solution in US
5. Almac Launches New STEMS System to Transform Temperature Controlled Shipment Monitoring in Clinical Trials
6. Clinical trial underway: Miniature ultrasound device could revolutionize pain relief
7. Sunquest Completes System-Wide Implementation at Cleveland Clinic Hospital Laboratories
8. Michael J. Fox Foundation Awards $1.1 Million For Clinical Trial of Transdermal Nicotine as Disease-Modifying Treatment For Parkinsons
9. NOVAVAX Presents Positive Clinical Results at The World Health Organization Conference, Geneva, Switzerland
10. UCLA Health System Presents: How to Successfully Implement a Clinical Portal
11. International Merchant Advisors CEO Mel Roseman to Discuss New Medical Marijuana Clinics Live on CBS Radio Networks Big Biz Show February 22, 2010 at 1:40 pm PST
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/21/2014)... 2014 Today, Fecbek.com, a leading wedding ... designs of wedding dresses. And all these elegant, gorgeous ... by excellent designers. , A wedding dress or wedding ... a wedding ceremony. Color, style and ceremonial importance of ... of the wedding participants. In order to satisfy every ...
(Date:8/20/2014)... August 21, 2014 Fancyflyingfox.com, the popular ... for women, has unveiled a new collection of 2014 ... has also launched a promotion for these trendy and ... spokesman, Fancyflyingfox.com launches the special offer to show its ... the newly released military ball outfits are provided with ...
(Date:8/20/2014)... 2014 Angeldress.co.uk is one of the ... market. It has earned the trust of thousands of ... amazing pricing. Recently, it has unveiled its new designs ... , This time, the company offers more than 20 ... fashionable products are offered at promotional prices (up to ...
(Date:8/20/2014)... Florida (PRWEB) August 20, 2014 Park ... by Dr. Michael A. Sherman, a top graduate of ... improved upon the value of its website through an ... in the News section of parkavenuedentalfl.com, the blog page ... mere “fluff” or “filler” material, instead concentrating on important ...
(Date:8/20/2014)... Ticket Down is a reliable source for ... In just a week, the U.S. Open Tennis Championship will kick ... was originally founded in 1881 and features grass courts since 1978. ... withdrawal from the event because of a wrist injury. Serena Williams ... to New York City with hopes of winning her sixth U.S. ...
Breaking Medicine News(10 mins):Health News:Elegant Wedding Dresses Are for Sale at Fecbek.com 2Health News:2014 Military Ball Gowns Offered At Popular Online Store Fancyflyingfox.com 2Health News:Angeldress.co.uk Now Dazzles With Beautiful Summer Cocktail Party Dresses 2Health News:Park Avenue Dental Provides Dental Care Tips for World Wide Community on New Website Blog 2Health News:Park Avenue Dental Provides Dental Care Tips for World Wide Community on New Website Blog 3Health News:2014 U.S. Open Tennis Tickets: Ticket Down Slashes Ticket Prices on All US Open Tennis Championship Sessions in New York at Arthur Ashe Stadium 2Health News:2014 U.S. Open Tennis Tickets: Ticket Down Slashes Ticket Prices on All US Open Tennis Championship Sessions in New York at Arthur Ashe Stadium 3Health News:2014 U.S. Open Tennis Tickets: Ticket Down Slashes Ticket Prices on All US Open Tennis Championship Sessions in New York at Arthur Ashe Stadium 4Health News:2014 U.S. Open Tennis Tickets: Ticket Down Slashes Ticket Prices on All US Open Tennis Championship Sessions in New York at Arthur Ashe Stadium 5
... MISSION VIEJO, Calif., May 27 The Ensign,Group, ... of the Ensign(TM) group of,skilled nursing, rehabilitative care ... will participate in the FBR Capital,Markets 12th Annual ... the Grand,Hyatt in New York City. Christopher Christensen, ...
... DETROIT, May 27 More than 400 mental health ... by consumers,to celebrate recovery from mental illness and advocate ... 9 AM and 3 PM at The Samaritan,Center at ... annual event will feature entertainment performances and,personal storytelling by ...
... Total Control of the Epidemic, has reached Eight Million People in Africa ... ... People can Liberate,Themselves from AIDS, -- this is what reality has taught us ... says Marie,Lichtenberg, Director of International Partnerships, of the Federation,Humana People to People., ...
... Somanetics Corporation,(Nasdaq: SMTS ) announced today that ... Drug Administration (FDA) to expand the labeling for its,INVOS ... will serve to support our ongoing efforts,in the pediatric ... Barrett, Somanetics, president and CEO. "First, the 510(k) expands,the ...
... 27 Animal Dermatology Clinic (ADC),Tustin announces today the ... on the Executive Board of the American College of,Veterinary ... the,operation of and is the decision making body for ... Member-at-Large position entails Dr.,Muse being a liaison between the ...
... Health Fair 2008 to Focus on Wellness,and Safety, ... was released,today by the Montefiore Medical Center:, ... old and younger, the themes for,this year,s Keeping ... health education, and safety and community. This FREE,fun-filled ...
Cached Medicine News:Health News:The Ensign Group to Present at the FBR Capital Markets 12th Annual Spring Investor Conference on May 29th 2Health News:The Ensign Group to Present at the FBR Capital Markets 12th Annual Spring Investor Conference on May 29th 3Health News:Successful Community-Driven Efforts Against HIV/AIDS Highlighted in Conference Panel 2Health News:Somanetics Receives 510(k) Clearance From the FDA to Expand INVOS System Labeling 2Health News:Animal Dermatology Clinic Tustin Announces Dr. Russell Muse's Appointment as the Member-At-Large for the Executive Board of the American College of Veterinary Dermatology 2
(Date:8/20/2014)... Aug. 20, 2014  The National Association of ... results achieved by the real-time, pseudoephedrine (PSE) blocking ... Precursor Log Exchange (NPLEx), automatically blocks unlawful pseudoephedrine ... methamphetamine offenders and make arrests. Data released by ... blocked the sale of more than ...
(Date:8/20/2014)... 20, 2014 Reportlinker.com announces that a ... catalogue: The Impact of Healthcare Reform ... http://www.reportlinker.com/p01618927/The-Impact-of-Healthcare-Reform-PPACA-On-the-US-IVD-Industry.html The "Patient ... complex legislation that affects virtually every aspect of ... beginning to take effect now. IVD manufacturers who ...
(Date:8/20/2014)... 20, 2014 Reportbuyer.com has added a new ... https://www.reportbuyer.com/product/98394/Global-Cardiac-Defibrillators-Industry.html This report ... Million by the following Product Segments: Implantable/Internal Cardiac Defibrillators, ... for the US, Canada , ... Asia-Pacific , Middle East ...
Breaking Medicine Technology:Missouri's Stop-Sale System Achieves Significant Results In Battle Against Meth 2The Impact of Healthcare Reform (PPACA) On the U.S. IVD Industry 2The Impact of Healthcare Reform (PPACA) On the U.S. IVD Industry 3The Impact of Healthcare Reform (PPACA) On the U.S. IVD Industry 4The Impact of Healthcare Reform (PPACA) On the U.S. IVD Industry 5The Impact of Healthcare Reform (PPACA) On the U.S. IVD Industry 6Global Cardiac Defibrillators Industry 2Global Cardiac Defibrillators Industry 3Global Cardiac Defibrillators Industry 4Global Cardiac Defibrillators Industry 5Global Cardiac Defibrillators Industry 6Global Cardiac Defibrillators Industry 7Global Cardiac Defibrillators Industry 8Global Cardiac Defibrillators Industry 9Global Cardiac Defibrillators Industry 10Global Cardiac Defibrillators Industry 11Global Cardiac Defibrillators Industry 12Global Cardiac Defibrillators Industry 13Global Cardiac Defibrillators Industry 14Global Cardiac Defibrillators Industry 15Global Cardiac Defibrillators Industry 16Global Cardiac Defibrillators Industry 17Global Cardiac Defibrillators Industry 18Global Cardiac Defibrillators Industry 19Global Cardiac Defibrillators Industry 20
... ARUP Laboratories is a national reference ... laboratory research and development. ARUP offers an ... unique medical tests in clinical and anatomic ... ARUP Laboratories' clients include more than half ...
... Laboratories is a national reference laboratory and ... and development. ARUP offers an extensive test ... tests in clinical and anatomic pathology. Owned ... clients include more than half of the ...
... a national reference laboratory and a worldwide ... ARUP offers an extensive test menu of ... clinical and anatomic pathology. Owned by the ... more than half of the nation's university ...
... national reference laboratory and a worldwide leader ... offers an extensive test menu of highly ... and anatomic pathology. Owned by the University ... than half of the nation's university teaching ...
Medicine Products: