Find a Genetic Deficiency That Impact or Affect a Child Development

2. Find a genetic deficiency that impact or affect a child development

Aneuploidy represents the most prevalent form of genetic instability found

in human embryos and is the leading genetic cause of miscarriage and

development delay in newborns.

Author Summary

Human eggs (oocytes) are exceptionally prone to the erroneous acquisition of too few

(monosomy) or too many (trisomy) chromosomes during development (meiosis). In fact,

this type of instability, termed aneuploidy, represents the most common genetic cause of

miscarriage in pregnant women (i.e. trisomy 16) and developmental delay in newborns

(i.e. Down syndrome from trisomy 21). Although aneuploidy has become a growing

problem for women as they delay childbearing into the late thirties, the underlying

molecular etiology remains unknown. Since telomere DNA is known to protect the ends

of chromosomes from degradation during cell division and is associated with aneuploidy

in cancer cells in adults, we tested whether telomere DNA plays a role in aneuploidy

development in human oocytes and embryos (where aneuploidy is much more common).

We demonstrate that telomere DNA deficiency is indeed associated with aneuploidy in

oocytes and early preimplantation (cleavage) stage embryos. This association is reversed

upon development to late preimplantation (blastocyst) stage embryos as a result of

telomere DNA elongation. These results indicate that telomere DNA deficiency may

cause inappropriate chromosome segregation during human oocyte cell division (meiosis)

and may serve as a marker for oocytes and embryos that lack the ability to produce

healthy children.

Citation: Treff NR, Su J, Taylor D, Scott RT Jr (2011) Telomere DNA Deficiency Is Associated with Development of Human Embryonic Aneuploidy. PLoS Genet 7(6): e1002161. doi:10.1371/journal.pgen.1002161

Editor: Terry J. Hassold, Washington State University, United States of America

Received: January 21, 2011; Accepted: May 14, 2011; Published: June 30, 2011

Copyright: © 2011 Treff et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Funding: Funding for this study was provided by the Reproductive Medicine Associates of New Jersey (RMANJ). This study was designed and performed by employees of RMANJ. This funding body participated in the design of the studies, analysis of the data, and preparing the manuscript.

Competing interests: RTS is a founding partner of the Reproductive Medicine Associates of New Jersey (RMANJ), and all the authors are employed by RMANJ.

* E-mail: ntreff@rmanj.com

1 Reproductive Medicine Associates of New Jersey, Morristown, New Jersey, United States of America, 2 Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, New Brunswick, New Jersey, United