View Full Version : Genetic mutation found for cleft palate and associated heart disease

14-01-17, 17:10

I've read elsewhere that this defect used to be more common when populations were more inbred, which makes sense, as does the fact that they studied Amish children and children from an Arabic community.

"Mutations in the HYAL2 gene responsible for CLPThe HYAL2 gene encodes hyaluronidase 2, an enzyme responsible for degrading hyaluronan (also known as hyaluronic acid).
Hyaluronan is a carbohydrate (http://www.medicalnewstoday.com/articles/161547.php) polymer usually found in connective tissue and the hard palate.
Researchers performed enzyme assays, which revealed that the mutations reduced the levels of the HYAL2 protein. This, in turn, inhibited the metabolism of hyaluronic acid.
Given that hyaluronan is found in the connective tissue of many parts in the body, including the heart, the researchers hypothesized that mutations in the HYAL2 gene would cause CLP and heart defects in mice.
They therefore performed further tests - including histological studies - on mice that lacked the HYAL2 protein. These studies revealed underdevelopment in the mice bones, as well as failed fusion of the palate tissue.
Further studies found cor triatriatum sinister - a common heart defect that accompanies CLP, in which the heart grows a third atrial chamber - in 50 percent of the mice lacking HYAL2.
The research by Muggenthaler and team shows the importance of hyaluronan in the development of the palate and heart."