Navigation Links
Mayo Clinic finds new genetic cause of neurodegeneration

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 researchers say its effect is cumulative and epigenetic. That is, it directly alters the genome after birth.

While the findings offer no immediate treatment for the affected families, the discovery does provide a much greater understanding of how the disease functions, and directions for future research in neurodegeneration.


Contact: Robert Nellis
Mayo Clinic

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:
(Date:10/13/2017)... ... 2017 , ... The American Board of Family Medicine's (ABFM) Board of Directors ... Officer, succeeding Dr. James C. Puffer upon his retirement. Dr. Newton will serve in ... retirement at the end of 2018. Upon assuming the role of President and CEO ...
(Date:10/13/2017)... ... , ... PurhealthRX , a leading Health and Nutrition Company, is announcing ... full spectrum CBD oil will revolutionize the rapidly growing CBD market by reducing the ... incorporated into liquid products, while reducing costs to end users. , The team of ...
(Date:10/13/2017)... ... October 13, 2017 , ... Lori R. Somekh, founder of the ... a national organization of elder law and special needs planning attorneys. “Membership in ElderCounsel ... also provides a forum to network with elder law attorneys nationwide,” said Somekh. ...
(Date:10/13/2017)... SAN LUIS OBISPO, Calif. (PRWEB) , ... October 13, 2017 , ... ... with Alzheimer’s or dementia. However, many long-term care insurance companies have a waiver for ... mean is the 90-day elimination period, when the family pays for care, is often ...
(Date:10/13/2017)... ... October 13, 2017 , ... Ellevate Network, the leading network for ... for action towards gender equality at their inaugural Summit in New York City in ... reached a social audience of over 3 million. To watch the Mobilize Women video, ...
Breaking Medicine News(10 mins):
(Date:10/5/2017)... 2017  In response to the nationwide opioid ... Surgeons (AAOMS) released prescribing recommendations that urge ibuprofen ... as a first-line therapy to manage a patient,s ... Recognizing the value and importance of ... Prescribing: Acute and Postoperative Pain Management" stresses that ...
(Date:10/4/2017)... Oct. 4, 2017  According to the Centers for Disease Control and ... October . PhysicianOne Urgent Care is helping communities across Massachusetts ... , by offering no-cost* flu shots through the end of the ... certain health insurance regulations. ... time to get a flu shot is by the end of October, ...
(Date:10/2/2017)... -- Diplomat Pharmacy, Inc. (NYSE: DPLO ) ... , and named its founder as Diplomat,s chief information ... Tennessee , will operate under Diplomat subsidiary Envoy ... for health care partners to include IT outsourcing, consulting, ... "In an interoperable world, technology delivers comprehensive insight and ...
Breaking Medicine Technology: