Alterations in DNA Methylation in Orofacial Clefts

Area of Science:

• Epigenetics and Developmental Biology
• Craniofacial Anomalies Research

Background:

• Orofacial clefts are common craniofacial anomalies with complex genetic and environmental causes.
• DNA methylation, a key epigenetic mechanism, plays a role in the development of these anomalies.
• Previous studies have investigated DNA methylation in non-syndromic cleft lip with cleft palate (nsCL/P) using diverse sample types.

Purpose of the Study:

• To provide an up-to-date review summarizing evidence of DNA methylation alterations in relation to orofacial clefts.
• To systematically categorize existing data on DNA methylation and nsCL/P development.

Main Methods:

• Systematic review and categorization of published data on DNA methylation in orofacial clefts.
• Data grouped into four categories: human blood, human tissues, animal models, and associated factors.
• Analysis of studies examining both hypomethylation and hypermethylation trends.

Main Results:

• DNA methylation changes (hypomethylation and hypermethylation) are associated with nsCL/P risk.
• The observed methylation trends vary depending on the specimen type (e.g., blood, saliva, tissue) and specific genomic regions.
• Evidence spans human studies and experimental animal models, indicating conserved epigenetic roles.

Conclusions:

• Alterations in DNA methylation are implicated in the development of nsCL/P.
• Understanding these epigenetic changes is crucial for advancing research into nsCL/P.
• This review serves as a foundation for developing potential genetic tools for early detection and prevention of nsCL/P.