We've seen the commercials, heard a Sarah McLachlan-esque speaker explain to us, over a soft violin solo, the importance of donating now, seen the heart-breaking photos of young children with distorted lips and mouths, our hearts going out to them.
But what do we know about cleft lip and palate?
Up until this point, we actually had somewhat limited information.
We knew cleft lip and palate (CLP) was a common condition amongst newborn babies, the Center for Disease Control and Prevention (CDC) reporting that on average, every year, about 2,650 babies are born with a cleft palate and about 4,440 are born with a cleft lip. We knew the onset of these deformities occurred during pregnancy, and made the educated deductions that the mother's diet and medication intake during pregnancy played a key role.
But that's all it was; an educated deduction.
As of recently, we still didn't know the full genetic mishap that leads to these deformities.
But, ladies and gentlemen, the code has been cracked.
New research published in the PLOS Genetics medical journal describes the incredible discovery made by Martina Muggenthaler and her team of international researchers at the University of Exeter in the U.K.
Muggenthaler and her team studied families with CLP from the Amish and Northern areas of Saudi Arabia, and with the use of genetic mapping studied single nucleotide polymorphisms. Muggenthaler and her team found the only pathogenic variant in the HYAL2 gene, which encodes for hyaluronidase 2.
Wait...they did what?
What did I just read?
No worries.
Genetic mapping is a process used by researchers to usually determine if a particular mutation or trait can transfer from parent to offspring. All they do is take the genes from a set of parents and the genes from their offspring and check for similar patterns or hiccups between them.
We call them markers.
If these markers fall around the same area on the particular chromosome on both the parents and offspring, its likely that particular 'trait' was passed from one generation to another.
Single nucleotide polymorphisms (SNP) means that in the gene mapping, they were looking for variations from one base pair to the next, rather than groups of them.
Hyaluronidase 2 is an enzyme, which is just a substance that kick starts a type of reaction within the body. In this case, it kick starts the degradation of hyaluronan, which is a carbohydrate found in connective tissue and hard palate.
Makes sense.
Ok so, what's the big deal?
They found the gene thingy that leads to bad stuff. It's still not a resolution.
Why is it important?
Because the important thing to know about finding a cure or possible preventative measures; it's not an overnight spectacular, as many movies have often portrayed it as.
It's a culmination of tests, examinations, trials, observations and steps to reach it.
There's still a ways to go, but we're one step closer.
Sources:
Ana Sandoiu. Medicine News Today. Scientists Find Genetic Mutation the Causes Cleft Lip and Palate, Heart Defects. 13 Jan. 2017.
