2024-05-03 13:45:50
Meningomyelocele, one of the most severe and common forms of spina bifida, is a serious type of neural tube defect that often requires prenatal or postnatal surgical repair and can result in a variety of physical and developmental difficulties.
Although its incidence has decreased in recent decades, largely thanks to folic acid fortification, meningomyelocele remains a problem in some areas of the world.
The causes of meningomyelocele remain largely unknown and the risk attributable to common genetic variants remains unexplored.
To better understand the genetic architecture of meningomyelocele, Keng Vong of the University of California, San Diego, United States, and his colleagues established the Spina Bifida Sequencing Consortium to identify genetic mutations present in a child with meningomyelocele who did not They are present in the parents.
The researchers found that de novo or previously unrecognized inherited 22q11.2 (22q11.2del) chromosomal deletions were the most common recurrent genetic condition, suggesting that patients with meningomyelocele would be 22.98 times more likely to harbor 22q11.2del compared to the general population.
Artistic recreation of DNA. (Image: Amazings/NCYT)
Additionally, in a separate study of a cohort of individuals with a 22q11.2 deletion, Vong and colleagues found that the risk of meningomyelocele was approximately 12 to 15 times higher than expected.
Using a mouse model, the study authors investigated candidate genes driving meningomyelocele risk and found that loss of Crkl is sufficient to disrupt neural tube development and is mediated, at least partially, by maternal folic acid. .
The study is titled “Risk of meningomyelocele mediated by the common 22q11.2 deletion.” And it has been published in the academic journal Science. (Source: AAAS)
#Chromosomal #alteration #increases #risk #severe #spina #bifida