Featured Research

from universities, journals, and other organizations

Researcher seeks clues to rare disease that killed 2-year-old best man

Date:
August 27, 2013
Source:
University of Rhode Island
Summary:
When 2-year-old Logan Stevenson served as best man at his parents’ wedding just days before he died of a rare genetic disorder, it drew international attention to a disease about which few people had ever heard.

When 2-year-old Logan Stevenson served as best man at his parents' wedding just days before he died of a rare genetic disorder, it drew international attention to a disease about which few people had ever heard. Hearing about Logan's story added another level of urgency to the research being conducted by University of Rhode Island Associate Professor Niall Howlett.

Related Articles


Logan died from complications of Fanconi anemia, a rare hereditary disorder characterized by physical defects, bone marrow failure, and increased susceptibility to cancer. About 1 in 200,000 children in the United States are born with the disease, and treatment options are extremely limited. Howlett has been studying Fanconi anemia for 15 years, ever since he became interested in how cells recognize and repair DNA damage.

"People are continually being exposed to things that damage our DNA, like sunlight, chemicals and pollutants," he said. "We have evolved to have hundreds of proteins whose sole function is to fix damaged DNA. We have multiple specialized DNA repair pathways that function continuously to repair damage accrued during our daily lives."

According to Howlett, there are just a handful of diseases -- all of them very rare -- that are caused by mutations in DNA repair genes. Fanconi anemia is one of them. "We know that there are at least 16 genes that, when mutated, result in Fanconi anemia," said Howlett, who teaches in the URI Department of Cell and Molecular Biology.

"These 16 genes encode for proteins that function together in a pathway to fix DNA damage. If you have a mutation in any one of these genes, the protein is defective and the repair pathway is broken." An inability to fix DNA damage can lead to the accumulation of additional mutations, ultimately leading to cancer, one of the characteristics of Fanconi anemia. "Why Fanconi anemia patients also develop physical defects and bone marrow failure remains a mystery," he added.

Howlett's research focuses on two of the Fanconi anemia proteins -- identified as FANCD2 and FANCI -- that function together and are activated through a process called ubiquitination.

"Ubiquitin is a small protein that is physically attached to other proteins after they are made," Howlett explained. "It's a molecular tag that provides instructions about the fate of a protein. In certain cases, ubiquitin can specify protein degradation, while in other cases it can signal that a protein needs to be moved from one place to another in the cell. In the case of FANCD2 and FANCI, ubiquitination targets these proteins to damaged DNA."

Howlett said that the ubiquitination step is especially important because in 90 percent of Fanconi anemia patients, that step is broken.

"An inability to attach ubiquitin to these proteins must be linked to why these kids get bone marrow failure and cancer," he said. "We want to learn as much as we can about this step -- how it's regulated, how it works, and how can we fix this step when it's broken -- so we can discover new ways to treat this disease."

Based on the severity of Logan Stevenson's disease, Howlett speculates that he may have had mutations in one of the two BRCA genes, which are well known for their involvement in hereditary breast and ovarian cancer.

"Females who inherit one bad BRCA gene -- like actress Angelina Jolie -- have a greatly increased risk for developing breast and ovarian cancer. If you inherit two bad BRCA genes you get Fanconi anemia," Howlett said. "The same is true for many Fanconi anemia genes. So while this disease is rare, the genes and proteins involved have major relevance for all of us in the fight against cancer. So it's really important that we figure out what these proteins do."

Howlett's research is funded by the National Institutes of Health, the Department of Defense, and the Leukemia Research Foundation. He attends annual meetings of the Fanconi Anemia Research Fund, where he meets with patients, doctors and other researchers, and always returns re-energized to continue his research.

"Stories like Logan's are heartbreaking," he said. "There are a lot of very challenging and important questions that need to be addressed to figure out how to fix this disease." Howlett's lab at URI is one of a small group of labs worldwide committed to addressing these challenges.


Story Source:

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


Cite This Page:

University of Rhode Island. "Researcher seeks clues to rare disease that killed 2-year-old best man." ScienceDaily. ScienceDaily, 27 August 2013. <www.sciencedaily.com/releases/2013/08/130827141648.htm>.
University of Rhode Island. (2013, August 27). Researcher seeks clues to rare disease that killed 2-year-old best man. ScienceDaily. Retrieved October 25, 2014 from www.sciencedaily.com/releases/2013/08/130827141648.htm
University of Rhode Island. "Researcher seeks clues to rare disease that killed 2-year-old best man." ScienceDaily. www.sciencedaily.com/releases/2013/08/130827141648.htm (accessed October 25, 2014).

Share This



More Health & Medicine News

Saturday, October 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Texas Nurse Nina Pham Cured of Ebola

Texas Nurse Nina Pham Cured of Ebola

AFP (Oct. 25, 2014) An American nurse who contracted Ebola while caring for a Liberian patient in Texas has been declared free of the virus and will leave the hospital. Duration: 01:01 Video provided by AFP
Powered by NewsLook.com
IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) 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