Title:MicroRNAs as Biomarkers for Birth Defects
Volume: 11
Issue: 1
Author(s): Ratnam S. Seelan, M. Michele Pisano and Robert M. Greene*
Affiliation:
- Department of Oral Immunology and Infectious Diseases, Division of Craniofacial Development and Anomalies, School of Dentistry, University of Louisville, Louisville, KY 40202, USA
Keywords:
Biomarkers, birth defects, exosomes, extracellular miRNAs, neural tube defects (NTDs), prenatal detection.
Abstract: It is estimated that 2-4% of live births will have a birth defect (BD). The availability of biomarkers
for the prenatal detection of BDs will facilitate early risk assessment, prompt medical intervention
and ameliorating disease severity. miRNA expression levels are often found to be altered in many
diseases. There is, thus, a growing interest in determining whether miRNAs, particularly extracellular
miRNAs, can predict, diagnose, or monitor BDs. These miRNAs, typically encapsulated in exosomes, are
released by cells (including those of the fetus and placenta) into the extracellular milieu, such as blood,
urine, saliva and cerebrospinal fluid, thereby enabling interaction with target cells. Exosomal miRNAs
are stable, protected from degradation, and retain functionality. The observation that placental and fetal
miRNAs can be detected in maternal serum, provides a strong rationale for adopting miRNAs as noninvasive
prenatal biomarkers for BDs. In this mini-review, we examine the current state of research involving
the use of miRNAs as prognostic and diagnostic biomarkers for BD.
