Featured Research

from universities, journals, and other organizations

Human Disease Gene Survey Yields Underlying Principles

Date:
February 14, 2001
Source:
Howard Hughes Medical Institute
Summary:
By compiling and categorizing 923 genes that malfunction in inherited diseases, Howard Hughes Medical Institute (HHMI) researchers have discerned patterns that indicate that this approach might be a powerful new tool for understanding genetic contributions to human diseases.

February 12, 2001 — By compiling and categorizing 923 genes that malfunction in inherited diseases, Howard Hughes Medical Institute (HHMI) researchers have discerned patterns that indicate that this approach might be a powerful new tool for understanding genetic contributions to human diseases.

Related Articles


Future analyses of newly discovered human disease genes revealed through the human genome sequencing projects, say the scientists, will give rise to new approaches to understanding and treating disease based on fundamental principles.

The results of the survey were published in the journal Nature on February 12, 2001, by HHMI investigator David L. Valle and colleagues Gerardo Jimenez-Sanchez and Barton Childs at The Johns Hopkins University School of Medicine. The article is part of a collection of articles published by Nature that discusses the implications of sequencing the human genome.

"Most of us who have studied genetic disease have focused on one particular disease, or perhaps a small set of related diseases," said Valle. "However, this is a classic example of stepping back to take a look at the forest instead of specific trees. We decided to collect a list of disease genes, to correlate those genes with various aspects of the disease and see if we could begin to discern general patterns."

The scientists began by assembling a list of 923 genes that cause inherited disease, drawing the list from the seventh edition of Metabolic and Molecular Bases of Inherited Diseases and from the Online Mendelian Inheritance in Man database. Next, they categorized each disease gene based on the function of its protein product. This strategy yielded four major categories: genes that encode enzymes; genes that encode proteins that influence the function of a second protein—for example, stabilizing, activating or folding another protein; genes that encode receptors; and genes that encode transcription factors.

Valle and his colleagues next scored each gene in these four major categories based on the clinical features of the disease—including age of onset, mode of inheritance, frequency, severity, extent of tissue involvement and association with malformations.

The analysis yielded a number of striking general insights, said Valle. For example, the scientists found that genes that encoded transcription factors are over-represented among genes that cause malformation diseases that begin in utero. This frequency, said Valle, reflects the importance of transcription factors in embryonic development.

The analyses also indicated that "an extraordinarily high" fraction of diseases with onset in the first year of life are caused by defects in genes that encode enzymes. This finding was expected, wrote the scientists, because the mother’s metabolic system protects the fetus from enzyme deficiencies until birth. Metabolic deficiencies are usually identified after birth.

The scientists found that diseases caused by genes that encode enzymes are primarily recessive, while those caused by genes whose proteins influence other proteins are evenly split between dominant and recessive. Also, diseases caused by transcription factors are more likely to be dominant, found the researchers.

Each of the four major functional categories of gene showed a different peak age of onset, found the scientists. Diseases due to transcription factors peaked in utero; those due to enzymes in the first year; those for receptors between one year and puberty, and those due to protein modifiers in early adulthood.

"These insights represent only the beginning of the kinds of discoveries of general principles that can be made as a comprehensive list of disease genes is developed and compared to the list of all human genes," said Valle. "Clearly, the human genome projects will enable us to make this comparison, and we find the prospect very exciting."

Valle added that insights arising from such comparisons will likely alter the fundamental view of human disease. "In the past, physicians have viewed disease as something that is visited upon us from outside. But the biologically correct perspective is that disease is really a consequence of living. As researchers continue to identify these patterns of disease, we will gain a more global view of the biology of disease as a normal consequence of natural selection and the evolution of our species.

"So, instead of having one group of people, namely physicians, interested in disease and another, namely biologists, interested in evolution and normal biology, we will come to understand that both groups are working on two aspects of the same population. We will probably find that each group will be better served by learning from the other."


Story Source:

The above story is based on materials provided by Howard Hughes Medical Institute. Note: Materials may be edited for content and length.


Cite This Page:

Howard Hughes Medical Institute. "Human Disease Gene Survey Yields Underlying Principles." ScienceDaily. ScienceDaily, 14 February 2001. <www.sciencedaily.com/releases/2001/02/010214074559.htm>.
Howard Hughes Medical Institute. (2001, February 14). Human Disease Gene Survey Yields Underlying Principles. ScienceDaily. Retrieved November 29, 2014 from www.sciencedaily.com/releases/2001/02/010214074559.htm
Howard Hughes Medical Institute. "Human Disease Gene Survey Yields Underlying Principles." ScienceDaily. www.sciencedaily.com/releases/2001/02/010214074559.htm (accessed November 29, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, November 29, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Rural India's Low-Cost Sanitary Pad Revolution

Rural India's Low-Cost Sanitary Pad Revolution

AFP (Nov. 28, 2014) — One man hopes his invention -– a machine that produces cheap sanitary pads –- will help empower Indian women. Duration: 01:51 Video provided by AFP
Powered by NewsLook.com
Research on Bats Could Help Develop Drugs Against Ebola

Research on Bats Could Help Develop Drugs Against Ebola

AFP (Nov. 28, 2014) — In Africa's only biosafety level 4 laboratory, scientists have been carrying out experiments on bats to understand how virus like Ebola are being transmitted, and how some of them resist to it. Duration: 01:18 Video provided by AFP
Powered by NewsLook.com
WHO Says Male Ebola Survivors Should Abstain From Sex

WHO Says Male Ebola Survivors Should Abstain From Sex

Newsy (Nov. 28, 2014) — WHO cites four studies that say Ebola can still be detected in semen up to 82 days after the onset of symptoms. Video provided by Newsy
Powered by NewsLook.com
Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 Video provided by AFP
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:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

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