Featured Research

from universities, journals, and other organizations

Genetic rarity found: A mutation that restores health

Date:
August 27, 2010
Source:
Yale University
Summary:
Errors in the copying of genes during cell division can cause numerous diseases, including cancer. Scientists, however, have unraveled the secrets of a much more rare phenomenon with potential therapeutic implications -- disease-causing genes that show a high frequency of self-repair.

Patients with a rare skin disease, ichthyosis with confetti, also have spots of normal skin which occur when mutations of disease-causing genes revert to normal during cell division.
Credit: Courtesy of Yale University

Errors in the copying of genes during cell division can cause numerous diseases, including cancer. Yale School of Medicine scientists, however, have unraveled the secrets of a much more rare phenomenon with potential therapeutic implications -- disease-causing genes that show a high frequency of self-repair.

Related Articles


In the August 26 issue of Science Express, the Yale team describes how one mutated copy of a gene called keratin 10 causes a severe skin disease known as ichthyosis with confetti. However, amidst the diseased skin, these patients also have hundreds to thousands of spots of normal skin. This phenomenon, the researchers report, occurs by the recombination of chromosomes prior to cell division. Instead of producing one normal copy of the gene and one dominant, disease-causing mutation, the exchange between chromosomes results in cells with either two mutant copies or no mutant copies. If the latter occurs, spots of normal, disease-free skin will form. The investigators used these recombination events in spots of normal skin to map and ultimately identify the disease gene.

"Usually, you have a disease-causing mutation, and you are stuck with it," said Keith Choate, assistant professor of dermatology and first author of the paper. "But we demonstrate that in this disease, there is an unusually high frequency of the appearance of mutation-free clones of cells." The reason these particular mutations revert to normal so frequently is not clear, note the scientists. However, in all affected patients the normal tail end of the keratin 10 protein is replaced by a protein sequence enriched for one amino acid, arginine. This causes the mutant keratin 10 to end up in the wrong part of the cell. "We believe the mis-localization of keratin 10 contributes both to the severity of the disease and the appearance of the clones of normal skin," said Richard Lifton, senior author of the paper and Sterling Professor and chair of the department of genetics.

The researchers say that knowing that these particular mutations can revert with high frequency gives them hope that they might find a way to mimic this process to develop treatments for other genetic diseases.

"Perhaps rather than directly correcting disease-causing mutations we might be able to recombine them away, similar to what happens in this disease," said Leonard Milstone, emeritus professor of dermatology and member of the research team.

Researchers at the University of California, San Francisco, Children's Mercy Hospitals and Clinics and Texas Children's Hospital contributed to the study. Other Yale authors on the paper are Yin Lu, Jing Zhou, Murim Choi, Anita Farhi and Carol Nelson-Williams,

The work was funded by the NIH and the Howard Hughes Medical Institute.


Story Source:

The above story is based on materials provided by Yale University. Note: Materials may be edited for content and length.


Journal Reference:

  1. Keith A. Choate, Yin Lu, Jing Zhou, Murim Choi, Peter M. Elias, Anita Farhi, Carol Nelson-Williams, Debra Crumrine, Mary L. Williams, Amy J. Nopper, Alanna Bree, Leonard M. Milstone, and Richard P. Lifton. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science, 2010; DOI: 10.1126/science.1192280

Cite This Page:

Yale University. "Genetic rarity found: A mutation that restores health." ScienceDaily. ScienceDaily, 27 August 2010. <www.sciencedaily.com/releases/2010/08/100826141223.htm>.
Yale University. (2010, August 27). Genetic rarity found: A mutation that restores health. ScienceDaily. Retrieved October 30, 2014 from www.sciencedaily.com/releases/2010/08/100826141223.htm
Yale University. "Genetic rarity found: A mutation that restores health." ScienceDaily. www.sciencedaily.com/releases/2010/08/100826141223.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