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

September 11, 2012

(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.

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

How math could make bones stronger

March 29, 2017

They may seem rigid and set in their ways, but your bones are actually under constant construction and deconstruction. They give up their nutrient treasures (calcium) to the body and then rebuild in a constant give-and-take ...

Sick stem cells point to better MS drugs

March 29, 2017

Doctors seeking a cure for an aggressive form of multiple sclerosis keep chasing a mirage: no matter how well a drug works in the lab, it never seems to help many patients in the clinic. But after closely examining stem cells ...

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.