Featured Research

from universities, journals, and other organizations

Complexity of Disease Phenotypes

Date:
March 10, 2008
Source:
American Society for Biochemistry and Molecular Biology
Summary:
Animal models have been invaluable in understanding how gene mutations physically affect a complex organism. However, as vividly illustrated in a new research study examining mice with a metabolic disease, the same mutation in the same species can produce wildly variable results.

Animal models have been invaluable in understanding how gene mutations physically affect a complex organism. However, as vividly illustrated in a new research study examining mice with a metabolic disease, the same mutation in the same species can produce wildly variable results.

Niemann-Pick type C (NPC) disease is a rare genetic condition brought on by a mutation in one protein, NPC1, which helps shuttle cholesterol out of a cell compartment called the lysosome. As a result, cholesterol accumulates in virtually every tissue in the body, causing widespread organ dysfunction and death.

John Dietschy and colleagues evaluated how factors like genetic background, additional mutations, and environmental influences affected the lifespan of a mouse model of NBC. Overall, the lifespan of different npc1--/-- mice ranged from 50-130 days, and even simple differences such as the host colony (same strain, just different location of breeding), or slight alterations in diet affected the average lifespan.

These studies highlight just how complex a 'simple' genetic disease really is, and that such variability should be carefully considered when designing animal experiments or interpreting results. It is particularly important, Dietschy and colleagues note, to use these animal models to carefully differentiate the non-specific environmental and genetic effects on lifespan from treatments that have a direct effect on the genetic abnormality present in the disease and thus may promote survival.


Story Source:

The above story is based on materials provided by American Society for Biochemistry and Molecular Biology. Note: Materials may be edited for content and length.


Cite This Page:

American Society for Biochemistry and Molecular Biology. "Complexity of Disease Phenotypes." ScienceDaily. ScienceDaily, 10 March 2008. <www.sciencedaily.com/releases/2008/03/080306153052.htm>.
American Society for Biochemistry and Molecular Biology. (2008, March 10). Complexity of Disease Phenotypes. ScienceDaily. Retrieved October 1, 2014 from www.sciencedaily.com/releases/2008/03/080306153052.htm
American Society for Biochemistry and Molecular Biology. "Complexity of Disease Phenotypes." ScienceDaily. www.sciencedaily.com/releases/2008/03/080306153052.htm (accessed October 1, 2014).

Share This



More Plants & Animals News

Wednesday, October 1, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Earth Has Lost Half Its Vertebrate Wildlife Since 1970: WWF

Earth Has Lost Half Its Vertebrate Wildlife Since 1970: WWF

Newsy (Sep. 30, 2014) A new study published by the World Wide Fund for Nature found that more than half of the world's wildlife population has declined since 1970. Video provided by Newsy
Powered by NewsLook.com
Dolphins Might Use Earth's Magnetic Field As A GPS

Dolphins Might Use Earth's Magnetic Field As A GPS

Newsy (Sep. 30, 2014) A study released Monday suggests dolphins might be able to sense the Earth's magnetic field and possibly use it as a means of navigation. Video provided by Newsy
Powered by NewsLook.com
How To Battle Stink Bug Season

How To Battle Stink Bug Season

Newsy (Sep. 30, 2014) Homeowners in 33 states grapple with stink bugs moving indoors at this time of year. Here are a few tips to avoid stink bug infestations. Video provided by Newsy
Powered by NewsLook.com
California University Designs Sustainable Winery

California University Designs Sustainable Winery

Reuters - US Online Video (Sep. 27, 2014) Amid California's worst drought in decades, scientists at UC Davis design a sustainable winery that includes a water recycling system. Vanessa Johnston reports. 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:

Strange & Offbeat Stories


Plants & Animals

Earth & Climate

Fossils & Ruins

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