Featured Research

from universities, journals, and other organizations

Rare Mutation Find May Offer Clues To Treating Osteoporosis

Date:
March 16, 1998
Source:
University Of North Carolina At Chapel Hill
Summary:
Unsightly, defective teeth -- but extraordinarily strong bones -- result from an unusual genetic mutation identified, located and cloned for the first time by researchers at the University of North Carolina at Chapel Hill School of Dentistry and Wake Forest University.

By DAVID WILLIAMSONUNC-CH News Services

Related Articles


CHAPEL HILL -- Unsightly, defective teeth -- but extraordinarily strong bones -- result from an unusual genetic mutation identified, located and cloned for the first time by researchers at the University of North Carolina at Chapel Hill School of Dentistry and Wake Forest University.

"Tricho-dento-osseous syndrome is so rare that it probably only affects a few thousand people around the world, and we are confident that the few extended families we found it in are related even if they don't know it," said Dr. J. Timothy Wright, professor of pediatric dentistry at UNC-CH. "Still, our work on TDO syndrome is potentially extremely important because it could give us clues about how to treat osteoporosis more successfully."

Osteoporosis -- the thinning of hip and other bones -- eventually affects everyone who lives into later life, Wright said. For many of the oldest, the condition becomes a life-threatening medical emergency, and it promises to become a greater problem nationally as baby boomers age.

"Bones of people with TDO, however, are so dense they fracture only rarely," he said. "Affected people are born with kinky, curly hair, and their chief health problem is that they develop little or no enamel on their teeth, which can become painful and very unsightly."

"If we can understand how the mutation stimulates bone density, we might be able to take advantage of it to help older patients."

A report the findings appears in the March issue of Human Molecular Genetics. Besides Wright, authors are Drs. Thomas C. Hart and Donald W. Bowden, associate professor of pediatrics and professor of biochemistry, respectively, and graduate student Jennifer Price, all at Wake Forest.

Researchers extensively studied six large families, including 46 people affected by TDO and 24 not affected. They found all affected people to have an identical genetic defect: four pairs of nucleotides -- building blocks of proteins -- were missing from chromosome 17. Those without the kinky hair and with good teeth showed no missing nucleotides.

Hart, a dentist and medical geneticist, called the discovery "quite exciting scientifically," partly because it is the first mutation of its kind ever found in humans. A Scottish sailor who came to the Colonies before the Revolution appears to have been the source of the first TDO mutation in the Americas.

Patricia Salevan, 41, a Cary, N.C., office manager, was born with TDO syndrome in 1956. Two of her three children now have it, as did her mother, her grandfather and his mother. She wears crowns on all her teeth to prevent them from wearing away. Cavities were not a major problem for her growing up because of fluoride-treated water and because large gaps between her teeth did not trap food particles.

"I started going to the dental school in Chapel Hill when I was about 6 years old," she said. "Because they took such good care of me, I take my children down there now as well."

Her biggest concern is what to do about her son's teeth.

"He's in the sixth grade, and that's a time when other children can be cruel -- calling names and such," she said. "We are struggling to decide what the best options for him are physically, psychologically and cosmetically."

The National Institute of Dental Research supports the UNC-CH and Wake Forest research, which involves other genetic abnormalities and may evolve into a center for genetic and clinical craniofacial research.

"With these families, we have heard all kinds of interesting patient histories such as kids getting hit in the head with baseball bats and were not hurt even though the bats broke," Wright said. "Even in car and motorcycle wrecks, they rarely broke any bones."


Story Source:

The above story is based on materials provided by University Of North Carolina At Chapel Hill. Note: Materials may be edited for content and length.


Cite This Page:

University Of North Carolina At Chapel Hill. "Rare Mutation Find May Offer Clues To Treating Osteoporosis." ScienceDaily. ScienceDaily, 16 March 1998. <www.sciencedaily.com/releases/1998/03/980316045046.htm>.
University Of North Carolina At Chapel Hill. (1998, March 16). Rare Mutation Find May Offer Clues To Treating Osteoporosis. ScienceDaily. Retrieved October 30, 2014 from www.sciencedaily.com/releases/1998/03/980316045046.htm
University Of North Carolina At Chapel Hill. "Rare Mutation Find May Offer Clues To Treating Osteoporosis." ScienceDaily. www.sciencedaily.com/releases/1998/03/980316045046.htm (accessed October 30, 2014).

Share This



More Health & Medicine News

Thursday, October 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Mind-Controlled Prosthetic Arm Restores Amputee Dexterity

Mind-Controlled Prosthetic Arm Restores Amputee Dexterity

Reuters - Innovations Video Online (Oct. 29, 2014) A Swedish amputee who became the first person to ever receive a brain controlled prosthetic arm is able to manipulate and handle delicate objects with an unprecedented level of dexterity. The device is connected directly to his bone, nerves and muscles, giving him the ability to control it with his thoughts. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Google To Use Nanoparticles, Wearables To Detect Disease

Google To Use Nanoparticles, Wearables To Detect Disease

Newsy (Oct. 29, 2014) Google X wants to improve modern medicine with nanoparticles and a wearable device. It's all an attempt to tackle disease detection and prevention. Video provided by Newsy
Powered by NewsLook.com
Can Drinking Milk Lead To Early Death?

Can Drinking Milk Lead To Early Death?

Newsy (Oct. 29, 2014) Researchers in Sweden released a study showing heavy milk drinkers face an increased mortality risk from a variety of causes. Video provided by Newsy
Powered by NewsLook.com
Obama: The US Will Not 'run and Hide' From Ebola

Obama: The US Will Not 'run and Hide' From Ebola

AP (Oct. 29, 2014) Surrounded by health care workers in the White House East Room, President Barack Obama said the U.S. will likely see additional Ebola cases in the weeks ahead. But he said the nation can't seal itself off in the fight against the disease. (Oct. 29) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

    Environment News

    Technology News



    Save/Print:
    Share:

    Free Subscriptions


    Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

    Get Social & Mobile


    Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

    Have Feedback?


    Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
    Mobile: iPhone Android Web
    Follow: Facebook Twitter Google+
    Subscribe: RSS Feeds Email Newsletters
    Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins