The K153R variant in the myostatin gene and sarcopenia at the end of the human lifespan.

Age
Marta González-FreireA Lucia

Abstract

We studied the A55T, E164K, I225T, K153R and P198A variants in the myostatin (GDF8) gene, muscle strength and mass, and physical function during daily living in 41 nonagenarians [33 women, age range, 90, 97]. No participant carried a mutant allele of the aforementioned variants, except three participants (all women), who carried the R allele of the K153R polymorphism, with one of them (woman aged 96 years) being homozygous. Overall, in KR women muscle phenotype values (1RM leg press and estimated muscle mass) were low-to-normal compared to the whole group (approximately 25th-50th percentile), and their functional capacity (Barthel and Tinetti tests) was normal. In the woman bearing the RR genotype, values of muscle mass and functional capacity were below the 25th percentile. She is the first RR Caucasian whose phenotype has been characterised specifically. In summary, heterozygosity for the GDF8 K153R polymorphism does not seem to exert a negative influence on the muscle phenotypes of women who are at the end of the human lifespan, yet homozygosity might do so. More research on larger cohorts of nonagenarians is needed to corroborate the present findings.

References

Jan 1, 1988·International Disability Studies·C CollinV Horne
Feb 1, 1986·Journal of the American Geriatrics Society·M E Tinetti
Apr 1, 1994·Medicine and Science in Sports and Exercise·S V Brooks, J A Faulkner
Sep 1, 2000·The American Journal of Clinical Nutrition·R C LeeS B Heymsfield
Sep 8, 2000·The Journal of Biological Chemistry·M ThomasR Kambadur
Jul 19, 2001·Proceedings of the National Academy of Sciences of the United States of America·S J Lee, A C McPherron
Apr 10, 2002·American Journal of Physiology. Cell Physiology·Ramón RíosJesús Devesa
Aug 8, 2002·Journal of the American Geriatrics Society·Anna Maria CorsiMaria Luisa Brandi
Feb 21, 2004·Biochemical and Biophysical Research Communications·Man-Shiow JiangRonald Stotish
Mar 18, 2004·Physiological Genomics·W HuygensG Beunen
Apr 9, 2005·Journal of the American Geriatrics Society·Pieter T M van DijkMiel W Ribbe
Sep 15, 2006·Journal of Cellular Physiology·Victoria SiriettMridula Sharma
Dec 23, 2006·American Journal of Human Genetics·Matthew A SaundersMichael W Nachman
Mar 13, 2008·Annals of Neurology·Kathryn R WagnerJerry R Mendell
Feb 24, 2009·Neuromuscular Disorders : NMD·Marta González-FreireAlejandro Lucia
Mar 12, 2009·International Journal of Sports Medicine·P JufferA Lucia
Apr 7, 2009·Medicine and Science in Sports and Exercise·Matthew A KostekLinda S Pescatello
May 28, 2009·BMC Public Health·José A Serra RexachAlejandro Lucia

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Citations

Jun 28, 2011·Human Genetics·Li-Jun TanHong-Wen Deng
Nov 1, 2011·Age·Nuria Garatachea, Alejandro Lucía
Feb 14, 2012·Annals of Human Biology·Ana Fernández-SantanderMaría Gaibar
Jun 6, 2015·Genetic Testing and Molecular Biomarkers·Pinar Tosun TasarFehmi Akcicek
May 6, 2015·Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society·Sigal Ben-ZakenAlon Eliakim
Oct 2, 2012·Ageing Research Reviews·Nuria Garatachea, Alejandro Lucia
Aug 27, 2013·Current Opinion in Endocrinology, Diabetes, and Obesity·Matthew F Bouchonville, Dennis T Villareal
Jan 14, 2018·The EMBO Journal·Thomas R CottonMarko Hyvönen
Dec 22, 2019·Cells·Jedd PrattGiuseppe De Vito

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