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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.

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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 March 31, 2015 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 March 31, 2015).

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