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 July 31, 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 July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Concern Grows Over Worsening Ebola Crisis

Concern Grows Over Worsening Ebola Crisis

AFP (July 30, 2014) Pan-African airline ASKY has suspended all flights to and from the capitals of Liberia and Sierra Leone amid the worsening Ebola health crisis, which has so far caused 672 deaths in Guinea, Liberia and Sierra Leone. Duration: 00:43 Video provided by AFP
Powered by NewsLook.com
At Least 20 Chikungunya Cases in New Jersey

At Least 20 Chikungunya Cases in New Jersey

AP (July 30, 2014) At least 20 New Jersey residents have tested positive for chikungunya, a mosquito-borne virus that has spread through the Caribbean. (July 30) Video provided by AP
Powered by NewsLook.com
Xtreme Eating: Your Daily Caloric Intake All On One Plate

Xtreme Eating: Your Daily Caloric Intake All On One Plate

Newsy (July 30, 2014) The Center for Science in the Public Interest released its 2014 list of single meals with whopping calorie counts. Video provided by Newsy
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:
from the past week

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