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

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 September 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 September 30, 2014).

Share This



More Health & Medicine News

Tuesday, September 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

How 'Yes Means Yes' Defines Sexual Assault

How 'Yes Means Yes' Defines Sexual Assault

Newsy (Sep. 29, 2014) Aimed at reducing sexual assaults on college campuses, California has adopted a new law changing the standard of consent for sexual activity. Video provided by Newsy
Powered by NewsLook.com
Scientists May Have Found An Early Sign Of Pancreatic Cancer

Scientists May Have Found An Early Sign Of Pancreatic Cancer

Newsy (Sep. 29, 2014) Researchers looked at 1,500 blood samples and determined people who developed pancreatic cancer had more branched chain amino acids. Video provided by Newsy
Powered by NewsLook.com
Colo. Doctors See Cluster of Enterovirus Cases

Colo. Doctors See Cluster of Enterovirus Cases

AP (Sep. 29, 2014) Doctors at the Children's Hospital of Colorado say they have treated over 4,000 children with serious respiratory illnesses since August. Nine of the patients have shown distinct neurological symptoms, including limb weakness. (Sept. 29) Video provided by AP
Powered by NewsLook.com
Dr.'s Unsure of Cause of Fast-Spreading Virus

Dr.'s Unsure of Cause of Fast-Spreading Virus

AP (Sep. 29, 2014) Doctors at the Children's Hospital of Colorado say they have treated over 4,000 children with serious respiratory illnesses since August. Nine of the patients have shown distinct neurological symptoms, including limb weakness. (Sept. 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