title: The K153R variant in the myostatin gene and sarcopenia at the end of the human lifespan.
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.
authors.affiliation: Universidad Europea de Madrid, 28670 Villaviciosa de Odón, Madrid, Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: González-Freire
authors.forename: Gabriel
authors.initials: G
authors.lastname: Rodríguez-Romo
authors.forename: Catalina
authors.initials: C
authors.lastname: Santiago
authors.forename: Natalia
authors.initials: N
authors.lastname: Bustamante-Ara
authors.forename: Thomas
authors.initials: T
authors.lastname: Yvert
authors.forename: Félix
authors.initials: F
authors.lastname: Gómez-Gallego
authors.forename: José A
authors.initials: JA
authors.lastname: Serra Rexach
authors.forename: Jonatan R
authors.initials: JR
authors.lastname: Ruiz
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
mesh_terms: D000203:Activities of Daily Living; D000369:Aged, 80 and over; D005260:Female; D006801:Humans; D055435:Myostatin / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D055948:Sarcopenia / Q000235:genetics*
chemical_list: D055435:Myostatin