Featured Research

from universities, journals, and other organizations

Genetic Variant Impairs Glycogen Synthesis

Date:
February 3, 2008
Source:
Public Library of Science
Summary:
Glycogen is stored in skeletal muscles and liver and is of central importance as a first source of energy for muscle contractions, especially during high intensity exercise. Human genetic disorders primarily affecting skeletal muscle glycogen turnover are well-recognized, but rare.

Glycogen is stored in skeletal muscles and liver and is of central importance as a first source of energy for muscle contractions, especially during high intensity exercise. Human genetic disorders primarily affecting skeletal muscle glycogen turnover are well-recognised, but rare.

Related Articles


In new research, Stephen O'Rahilly (University of Cambridge, UK) and colleagues describe the effect of a recently identified genetic variant -- known as PPP1R3A FS -- that affects glycogen turnover and other aspects of metabolism.

Confirming that the variant is common in the UK white population (in 1.46% of the 744 adults enrolled in the study), the findings identify PPP1R3A FS as the first prevalent mutation known to imp air glycogen synthesis and to decrease glycogen levels in human skeletal muscles.

In an accompanying perspective that discusses the study, Leif Groop and Marju Orho-Melander (both at Lund University, Sweden), who were not involved in the study, says that the study helps to "shed new light on the role of disturbed glycogen synthesis in disease pathogenesis."

Citation: Savage DB, Zhai L, Ravikumar B, Choi CS, Snaar JE (2008) A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content inhumans and mice. PLoS Med 5(1): e27. http://medicine.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pmed.0050027


Story Source:

The above story is based on materials provided by Public Library of Science. Note: Materials may be edited for content and length.


Cite This Page:

Public Library of Science. "Genetic Variant Impairs Glycogen Synthesis." ScienceDaily. ScienceDaily, 3 February 2008. <www.sciencedaily.com/releases/2008/01/080129195452.htm>.
Public Library of Science. (2008, February 3). Genetic Variant Impairs Glycogen Synthesis. ScienceDaily. Retrieved February 26, 2015 from www.sciencedaily.com/releases/2008/01/080129195452.htm
Public Library of Science. "Genetic Variant Impairs Glycogen Synthesis." ScienceDaily. www.sciencedaily.com/releases/2008/01/080129195452.htm (accessed February 26, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, February 26, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sleeping Too Much Or Too Little Might Increase Stroke Risk

Sleeping Too Much Or Too Little Might Increase Stroke Risk

Newsy (Feb. 26, 2015) People who sleep more than eight hours per night are 45 percent more likely to have a stroke, according to a University of Cambridge study. Video provided by Newsy
Powered by NewsLook.com
London Show Dissects History of Forensic Science

London Show Dissects History of Forensic Science

AFP (Feb. 25, 2015) Forensic science, which has fascinated generations with its unravelling of gruesome crime mysteries, is being put under the microscope in an exhibition of real criminal investigations in London. Duration: 00:53 Video provided by AFP
Powered by NewsLook.com
Michigan Couple Celebrates Identical Triplets

Michigan Couple Celebrates Identical Triplets

AP (Feb. 25, 2015) A suburban Detroit couple who have two older children are adjusting to life after becoming parents to identical triplets _ a multiple birth a doctor calls rare. (Feb. 25) Video provided by AP
Powered by NewsLook.com
Mayor Says District of Columbia to Go Ahead With Pot Legalization

Mayor Says District of Columbia to Go Ahead With Pot Legalization

Reuters - News Video Online (Feb. 25, 2015) Washington&apos;s mayor says the District of Columbia will move forward with marijuana legalization, despite pushback from Congress. Rough Cut (no reporter narration). 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


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