Featured Research

from universities, journals, and other organizations

Research sheds new light on heritability of disease

Date:
January 16, 2014
Source:
Hebrew SeniorLife Institute for Aging Research
Summary:
A group of international researchers has published a paper describing a study aimed at better understanding how inherited genetic differences, or variants, predispose certain individuals to develop diseases such as type 2 diabetes. The study integrated computational methodology with experimentation to address and prove underlying genetic causes of type 2 diabetes.

A group of international researchers, led by a research fellow in the Harvard Medical School-affiliated Institute for Aging Research at Hebrew SeniorLife, published a paper today in Cell describing a study aimed at better understanding how inherited genetic differences, or variants, predispose certain individuals to develop diseases such as type 2 diabetes. The study integrated computational methodology with experimentation to address and prove underlying genetic causes of type 2 diabetes. In principle, the new methodology can be applied to any common disease, including osteoporosis, Alzheimer's disease and cancer. The hope is that with better understanding of how DNA functions in these individuals, new treatments will follow.

Since completion of the Human Genome Project in 2003, researchers have been working to discover how genes contribute to disease. The question remains why some individuals are more at risk than others to develop certain diseases when factors such as age, gender and life-style are equal.

A small percentage of DNA contain the coded sequence that produces proteins necessary for cell growth and function. However DNA that lies outside of these coding regions play an essential role in turning genes on and off. By understanding how these regulatory regions work in concert with one another, we may identify targets for future therapies.

The method developed and tested by this study tracks patterns within regulatory regions in a number of species close or distant to humans. If a pattern of variants in these non-coding regions is present in many species, it is likely to serve a very important function.

According to study co-author and Institute Fellow, Melina Claussnitzer, Ph.D., "It has become clear that the bulk of disease associated variants are located in the non-coding part of the DNA, where the function of the DNA is largely unknown. Non-coding variants are known to contribute to disease through dysregulation of gene expression. But pinpointing the non-coding variants, which confer this dysregulation remains a major challenge."

The authors applied the analysis to genetic variants associated with type 2 diabetes, one of the most prevalent human diseases. The integration of their computational approach together with several experimental approaches (thereby addressing and proving causality) identified a 2 diabetes variant that promotes disease by interfering with gene regulation and altering fat cell function.

Instead of only considering the conservation of DNA sequences across species, the researchers' computational methodology finds conserved patterns of certain sequences that make up transcription factor binding sites (TFBS) where proteins bind to regulate gene expression. To find these conserved TFBS patterns, the computer uses data about a given region around a gene variant in the human genome, and searches for comparable regions in other vertebrate species. The TFBS pattern conservation of the regions is then scored based on the similarity of TFBS arrangement across species. A high score indicates a high probability that this variant affects the regulation of genes, thereby pointing to the underlying mechanism of a disease.


Story Source:

The above story is based on materials provided by Hebrew SeniorLife Institute for Aging Research. Note: Materials may be edited for content and length.


Journal Reference:

  1. Melina Claussnitzer, Simon N. Dankel, Bernward Klocke, Harald Grallert, Viktoria Glunk, Tea Berulava, Heekyoung Lee, Nikolay Oskolkov, Joao Fadista, Kerstin Ehlers, Simone Wahl, Christoph Hoffmann, Kun Qian, Tina Rönn, Helene Riess, Martina Müller-Nurasyid, Nancy Bretschneider, Timm Schroeder, Thomas Skurk, Bernhard Horsthemke, Derek Spieler, Martin Klingenspor, Martin Seifert, Michael J. Kern, Niklas Mejhert, Ingrid Dahlman, Ola Hansson, Stefanie M. Hauck, Matthias Blüher, Peter Arner, Leif Groop, Thomas Illig, Karsten Suhre, Yi-Hsiang Hsu, Gunnar Mellgren, Hans Hauner, Helmut Laumen. Leveraging Cross-Species Transcription Factor Binding Site Patterns: From Diabetes Risk Loci to Disease Mechanisms. Cell, 2014; 156 (1-2): 343 DOI: 10.1016/j.cell.2013.10.058

Cite This Page:

Hebrew SeniorLife Institute for Aging Research. "Research sheds new light on heritability of disease." ScienceDaily. ScienceDaily, 16 January 2014. <www.sciencedaily.com/releases/2014/01/140116130818.htm>.
Hebrew SeniorLife Institute for Aging Research. (2014, January 16). Research sheds new light on heritability of disease. ScienceDaily. Retrieved September 20, 2014 from www.sciencedaily.com/releases/2014/01/140116130818.htm
Hebrew SeniorLife Institute for Aging Research. "Research sheds new light on heritability of disease." ScienceDaily. www.sciencedaily.com/releases/2014/01/140116130818.htm (accessed September 20, 2014).

Share This



More Health & Medicine News

Saturday, September 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) — The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. Video provided by Newsy
Powered by NewsLook.com
Jury Delivers Verdict in Salmonella Trial

Jury Delivers Verdict in Salmonella Trial

AP (Sep. 19, 2014) — A federal jury has convicted three people in connection with an outbreak of salmonella poisoning five years ago that sickened hundreds of people and was linked to a number of deaths. (Sept. 19) Video provided by AP
Powered by NewsLook.com
How The 'Angelina Jolie Effect' Increased Cancer Screenings

How The 'Angelina Jolie Effect' Increased Cancer Screenings

Newsy (Sep. 19, 2014) — Angelina's Jolie's decision to undergo a preventative mastectomy in 2013 inspired many women to seek early screenings for the disease. Video provided by Newsy
Powered by NewsLook.com
The Cost of Ebola

The Cost of Ebola

Reuters - Business Video Online (Sep. 18, 2014) — As Sierra Leone prepares for a three-day "lockdown" in its latest bid to stem the spread of Ebola, Ciara Lee looks at the financial implications of fighting the largest ever outbreak of the disease. Video provided by Reuters
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins