Study: Blocked ionic channels prevent cellular development, cause birth defects

September 11, 2012, Brigham Young University

(Medical Xpress)—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 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 and .

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

Explore further: Study tracks down cause of birth defect

More information: An inwardly rectifying K+ channel is required for patterning, doi: 10.1242/dev.078592

Related Stories

Study tracks down cause of birth defect

February 13, 2012
A USC research team has pinpointed the source of a genetic disorder that causes life-threatening birth defects, which may allow doctors to quickly diagnose and better treat the disease.

Scientists discover how to design drugs that could target particular nerve cells

November 10, 2011
(Medical Xpress) -- The future of drug design lies in developing therapies that can target specific cellular processes without causing adverse reactions in other areas of the nervous system. Scientists at the Universities ...

New clue found for Fragile X syndrome-epilepsy link

April 12, 2011
Individuals with fragile X syndrome, the most common inherited form of intellectual disability, often develop epilepsy, but so far the underlying causes are unknown. Researchers have now discovered a potential mechanism that ...

Recommended for you

Scientists uncover new gatekeeper function of anti-aging molecule

November 12, 2018
The protein klotho has been shown to promote longevity and counteract aging-related impairments. Having more klotho seems to allow for longer and healthier lives, whereas a depletion of this molecule accelerates aging and ...

Can scientists change mucus to make it easier to clear, limiting harm to lungs?

November 12, 2018
For healthy people, mucus is our friend. It traps potential pathogens so our airways can dispatch nasty bugs before they cause harm to our lungs. But for people with conditions such as cystic fibrosis (CF) and chronic obstructive ...

Mutations, CRISPR, and the biology behind movement disorders

November 12, 2018
Scientists at the RIKEN Center for Brain Science (CBS) in Japan have discovered how mutations related to a group of movement disorders produce their effects. Published in Proceedings of the National Academy of Sciences, the ...

Researchers explain how your muscles form

November 12, 2018
All vertebrates need muscles to function; they are the most abundant tissue in the human body and are integral to movement.

Defective DNA damage repair leads to chaos in the genome

November 12, 2018
Scientists at the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) have now found a cause for frequent catastrophic events in the genetic material of cancer cells that have only been known for a few ...

Salmonella found to be resistant to different classes of antibiotics

November 12, 2018
Brazil's Ministry of Health received reports of 11,524 outbreaks of foodborne diseases between 2000 and 2015, with 219,909 individuals falling sick and 167 dying from such diseases. Bacteria caused most outbreaks of such ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.