Genetic Variant Impairs Glycogen Synthesis

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Genetic Variant Impairs Glycogen Synthesis

http://www.sciencedaily.com/releases/2008/01/080129195452.htm

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, 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