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Genetic Variant Impairs Glycogen Synthesis
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. In new research
published in PLoS Medicine, 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 impair
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."
A prevalent variant in PPP1R3A impairs glycogen synthesis and reduces muscle glycogen content in humans and mice.
Savage DB, Zhai L, Ravikumar B, Choi CS, Snaar JE
PLoS Med 5(1): e27.
Click here to view article online
About PLoS Medicine
PLoS Medicine is an open access, freely available international medical journal. It publishes original research that enhances our understanding of
human health and disease, together with commentary and analysis of important global health issues.
PLoS Medicine
About the Public Library of Science
The Public Library of Science (PLoS) is a non-profit organization of scientists and physicians committed to making the world's scientific and medical
literature a freely available public resource.
Public Library of Science
Varianta genetice Impairs glicogen de sinteza - Genetic Variant Impairs Glycogen Synthesis - articole medicale engleza - startsanatate