We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.
Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
RANDOX LABORATORIES

Epigenetic Variation May Be Responsible for Hereditary Disorders

By BiotechDaily International staff writers
Posted on 07 Jun 2018
Print article
Image: The image shows a DNA molecule that is methylated on both strands on the center cytosine. DNA methylation plays an important role for epigenetic gene regulation in development, cancer, and some hereditary disorders (Photo courtesy of Wikimedia Commons).
Image: The image shows a DNA molecule that is methylated on both strands on the center cytosine. DNA methylation plays an important role for epigenetic gene regulation in development, cancer, and some hereditary disorders (Photo courtesy of Wikimedia Commons).
Genomics researchers have suggested that some hereditary disorders are caused by epigenetic variation that modifies gene expression rather than by traditional mutation that changes the sequence of DNA bases.

Certain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole-genome sequencing (WGS), a substantial fraction of such disorders remain unexplained.

To solve this mystery, investigators at the Icahn School of Medicine at Mount Sinai (New York, NY, USA) proposed that some cases of ND–CA were likely caused by aberrant DNA methylation leading to epigenetic variation (epivariation) that disrupted genome function.

To test this theory, the investigators compared DNA methylation profiles from 489 individuals with ND–CAs to 1534 samples from control subjects. In the May 25, 2018, online edition of the journal Nature Communications, they reported that epivariations frequently occurred in the human genome. De novo epivariations were significantly enriched in ND-CA cases, while RNAseq analysis showed that epivariations often had an impact on gene expression comparable to loss-of-function mutations.

"Our study suggests that these epigenetic mutations are a significant contributor to human disease," said senior author Dr. Andrew Sharp, associate professor of genetic and genomic sciences at the Icahn School of Medicine. "These findings can open up a whole new world in what we know about disease and genetic profiling. Investigating DNA methylation when profiling genomes for disease mutations could help us uncover causative defects in congenital and neurodevelopmental diseases that have eluded us for years."

Related Links:
Icahn School of Medicine at Mount Sinai


Print article

Channels

Business

view channel

Collaborative Agreement to Aid in Setting Guidelines for Evaluating Potential Ebola Therapy

Cooperation between an Israeli biopharmaceutical company and medical branches of the US government is designed to set ground rules for continued evaluation of an experimental therapy for Ebola virus disease. RedHill Biopharma Ltd. (Tel Aviv, Israel), a biopharmaceutical company primarily focused on development and c... Read more
Copyright © 2000-2018 Globetech Media. All rights reserved.