Featured Research

from universities, journals, and other organizations

Biochemists solve a birth-defect mystery

Date:
September 12, 2012
Source:
Brigham Young University
Summary:
The cellular cause of birth defects like cleft palates, missing teeth and problems with fingers and toes has been a tricky puzzle for scientists. Now biochemists studied an ion channel that regulates the electrical charge of a cell and found that blocking this channel disrupts the work of a protein that is supposed to carry marching orders to the nucleus. This newly discovered mechanism may be what some birth defect disorders have in common, opening the door for the pursuit of a preventative treatment.

BYU biochemistry professor Emily Bates and her students have found how cellular development is disrupted and leads to birth defects.
Credit: Image courtesy of Brigham Young University

The cellular cause of birth defects like cleft palates, missing teeth and problems with fingers and toes has been a tricky puzzle for scientists.

Now Professor Emily Bates and her biochemistry students at Brigham Young University have placed an important piece of the developmental puzzle. They studied an ion channel that regulates the electrical charge of a cell. In a new study published by the journal Development, they show that blocking this channel disrupts the work of a protein that is supposed to carry marching orders to the nucleus.

Without those instructions, cells don't become what they were supposed to become -- be that part of a palate, a tooth or a finger. Though there are various disorders that lead to birth defects, this newly discovered mechanism may be what some syndromes have in common.

Bates and her graduate student, Giri Dahal, now want to apply the findings toward the prevention of birth defects -- particularly those caused by fetal alcohol syndrome and fetal alcohol spectrum disorder.

"What we think might be the case is that this is the target for a few similar disorders," Bates said. "The big thing that we have right now is that this ion channel is required for protein signaling, which means that developmental signaling pathways can sense the charge of a cell. And that's exciting for a lot of different reasons."

For example, the new study might also have implications for the battle against cancer. With cancer, the problem is that cells are receiving a bad set of instructions that tells them to multiply and spread. If they can devise a way to block the ion channel, it may stop those cancerous instructions from getting through.

"This protein signaling pathway is the same one that tells cancer cells to metastasize," Bates said. "We're planning to test a therapy to specifically block this channel in just the cells that we want to stop."

Bates, who received her Ph.D. in genetics from Harvard, authored the study with several BYU students. The experience has already helped launch two students into prestigious graduate programs: Brandon Gassaway is at Yale for a Ph.D. in molecular biology and Ben Kwok is at Ohio State University for dental school.

The project exemplifies BYU's philosophy that conducting world class scholarship and preparing undergraduate students for a productive career go hand in hand. A recent survey showed that 30 percent of BYU undergraduate students conduct research with a faculty mentor. Mentored research opportunities are a big reason that so many BYU graduates go on to earn Ph.D.s. National surveys reveal that over the past five years, BYU ranks fifth in the country as a Ph.D. launch pad.


Story Source:

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


Journal Reference:

  1. G. R. Dahal, J. Rawson, B. Gassaway, B. Kwok, Y. Tong, L. J. Ptacek, E. Bates. An inwardly rectifying K+ channel is required for patterning. Development, 2012; 139 (19): 3653 DOI: 10.1242/dev.078592

Cite This Page:

Brigham Young University. "Biochemists solve a birth-defect mystery." ScienceDaily. ScienceDaily, 12 September 2012. <www.sciencedaily.com/releases/2012/09/120912093825.htm>.
Brigham Young University. (2012, September 12). Biochemists solve a birth-defect mystery. ScienceDaily. Retrieved September 30, 2014 from www.sciencedaily.com/releases/2012/09/120912093825.htm
Brigham Young University. "Biochemists solve a birth-defect mystery." ScienceDaily. www.sciencedaily.com/releases/2012/09/120912093825.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