Myostatin Gene Polymorphism in an Elderly Sarcopenic Turkish Population

Taşar, Pınar Tosun; Şahin, Sevnaz; Karaman, Emine; Oz, A; Ulusoy, Merve Gülşah; Duman, Soner; Berdelı, Afig; Akçiçek, Fehmi

doi:10.1089/gtmb.2015.0033

Cited by 7 publications

(5 citation statements)

References 21 publications

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“…3B). Interestingly, this allelic variant was found at higher frequency in two centenarian cohorts, as compared to controls 32 , although the implications of this polymorphism in terms of longevity and maintenance of muscle mass and strength have yet to be definitively established 32-41 . While GDF11 has similar furin and TLD recognition sequences, it is not known if sequence variations, especially in the surrounding areas, which are more divergent, alter furin and/or TLD processing of GDF11 (Fig.…”

Section: Biochemical Regulation Of Gdf11 and Myostatinmentioning

confidence: 94%

“…As mentioned above, human genomics studies suggest an association of the K153R polymorphism, thought to increase MSTN activity by enhancing furin processing 31 , with longer lifespan 32 . Interestingly, homozygosity for the K153R allele is extremely rare, and most R allele-carrying centenarians are heterozygous for this variant, a genotype that does not appear to alter muscle phenotypes in aged individuals 38, 39, 41 . Studies in mice also suggest that alterations of MSTN signaling may impact lifespan.…”

Section: Gdf11 Related Pathways In Skeletal Musclementioning

confidence: 99%

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Biochemistry and Biology of GDF11 and Myostatin

Walker

Poggioli

Katsimpardi³

et al. 2016

Circulation Research

167

106

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Growth differentiation factor 11 (GDF11) and myostatin (or GDF8) are closely related members of the transforming growth factor β superfamily and are often perceived to serve similar or overlapping roles. Yet, despite commonalities in protein sequence, receptor utilization and signaling, accumulating evidence suggests that these 2 ligands can have distinct functions in many situations. GDF11 is essential for mammalian development and has been suggested to regulate aging of multiple tissues, whereas myostatin is a well-described negative regulator of postnatal skeletal and cardiac muscle mass and modulates metabolic processes. In this review, we discuss the biochemical regulation of GDF11 and myostatin and their functions in the heart, skeletal muscle, and brain. We also highlight recent clinical findings with respect to a potential role for GDF11 and/or myostatin in humans with heart disease. Finally, we address key outstanding questions related to GDF11 and myostatin dynamics and signaling during development, growth, and aging. (Circ Res.

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Section: Biochemical Regulation Of Gdf11 and Myostatinmentioning

confidence: 94%

Section: Gdf11 Related Pathways In Skeletal Musclementioning

confidence: 99%

Biochemistry and Biology of GDF11 and Myostatin

Walker

Poggioli

Katsimpardi³

et al. 2016

Circulation Research

167

106

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“…It is thus possible that individuals carrying favourable gene variants are less susceptible to sarcopenia and hence can maintain independence until later life. To date, five studies have investigated the association of SNPs with sarcopenia; limited to VDR, IL6, ACTN3 and MSTN polymorphisms [19][20][21][22][23] . The studies identified an association of ACTN3 and VDR gene variants with sarcopenia, but did not find any association with IL6 and MSTN variants.…”

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confidence: 99%

Prevalence and association of single nucleotide polymorphisms with sarcopenia in older women depends on definition

Khanal

Stebbings

et al. 2020

Sci Rep

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The prevalence of sarcopenia depends on the definition used. There are, however, consistent sarcopenic characteristics, including a low muscle mass and muscle strength. Few studies have investigated the relationship between sarcopenia and genotype. A cross-sectional study was conducted with 307 community-dwelling ≥60-year-old women in South Cheshire, UK. Handgrip strength was assessed with a handgrip dynamometer and skeletal muscle mass was estimated using bioelectrical impedance. DNA was extracted from saliva (∼38%) or blood (∼62%) and 24 single-nucleotide polymorphisms (SNPs) were genotyped. Three established sarcopenia definitions -%Skeletal Muscle Mass (%SMM), Skeletal Muscle Mass Index (SMI) and European Working Group on Sarcopenia in Older People (EWGSOP) -were used to assess sarcopenia prevalence. Binary logistic regression with age as covariate was used to identify SNPs associated with sarcopenia. The prevalence of sarcopenia was: %SMM 14.7%, SMI 60.6% and EWGSOP 1.3%. Four SNPs were associated with the %SMM and SMI definitions of sarcopenia; FTO rs9939609, ESR1 rs4870044, NOS3 rs1799983 and TRHR rs7832552. The first three were associated with the %SMM definition, and TRHR rs7832552 with the SMI definition, but none were common to both sarcopenia definitions. The gene variants associated with sarcopenia may help proper counselling and interventions to prevent individuals from developing sarcopenia.Sarcopenia is defined as an ageing-related loss of both muscle mass and strength below a threshold level 1 . It is an important predictor of adverse outcomes such as limited mobility, increased risk of falls, decreased quality of life (QoL), hospitalization and mortality, and contributes to tens of millions of pounds of health care costs in the UK 1-3 . Although muscle weakness and skeletal muscle atrophy are overt characteristics of this geriatric syndrome, there is ongoing debate on the operational definition, screening and diagnosis, and optimal management and treatment of the condition 1,4-6 . The considerable heterogeneity in the reported prevalence of sarcopenia is largely attributable to the different definitions or cut-offs used 7-9 .The fact that some elderly do not show sarcopenia, whilst others of the same age do 10,11 , suggests that some individuals are more susceptible to sarcopenia than others. The different susceptibility is likely due to a combination of factors including physical activity, diet, sedentary behaviour and genetics [12][13][14][15] . Several studies have reported an association of single nucleotide polymorphisms (SNPs) with lean mass, muscle volume and muscle strength [16][17][18] . It is thus possible that individuals carrying favourable gene variants are less susceptible to sarcopenia and hence can maintain independence until later life. To date, five studies have investigated the association of SNPs with sarcopenia; limited to VDR, IL6, ACTN3 and MSTN polymorphisms [19][20][21][22][23] . The studies identified an association of ACTN3 and VDR gene variants with sarcopenia, but di...

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“…Two of the factors that significantly affect the association of MSTN genotypes with muscle mass and skeletal muscle strength are sex and age. Experiments to identify the effect of MSTN on muscle mass and strength showed different results depending on these two factors [ 66 , 67 ].…”

Section: Methodsmentioning

confidence: 99%

Association of Myostatin Gene Polymorphisms with Strength and Muscle Mass in Athletes: A Systematic Review and Meta-Analysis of the MSTN rs1805086 Mutation

Kruszewski

Aksenov

2022

Genes

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Polymorphism (rs1805086), c.458A>G, p.Lys(K)153Arg(R), (K153R) of the myostatin gene (MSTN) has been associated with a skeletal muscle phenotype (hypertrophic response in muscles due to strength training). However, there are not enough reliable data to demonstrate whether MSTN rs1805086 K and R allelic variants are valid genetic factors that can affect the strength phenotype of athletes’ skeletal muscles. The aim is to conduct a systematic review and meta-analysis of the association of MSTN rs1805086 polymorphism with the strength phenotype of athletes. This study analyzed 71 research articles on MSTN and performed a meta-analysis of MSTN K153R rs1805086 polymorphism in strength-oriented athletes and a control (non-athletes) group. It was found that athletes in the strength-oriented athlete group had a higher frequency of the R minor variant than that in the control group (OR = 2.02, P = 0.05). Thus, the obtained results convincingly demonstrate that there is an association between the studied polymorphism and strength phenotype of athletes; therefore, further studies on this association are scientifically warranted.

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Myostatin Gene Polymorphism in an Elderly Sarcopenic Turkish Population

Abstract: MSTN genotyping revealed that only 3.9% (6/152) of participants had the MSTN K153R heterozygous mutation. Despite the detection of this mutation in the study group, no relationship was found between this mutation and sarcopenia.

Cited by 7 publications

References 21 publications

Biochemistry and Biology of GDF11 and Myostatin

Biochemistry and Biology of GDF11 and Myostatin

Prevalence and association of single nucleotide polymorphisms with sarcopenia in older women depends on definition

Association of Myostatin Gene Polymorphisms with Strength and Muscle Mass in Athletes: A Systematic Review and Meta-Analysis of the MSTN rs1805086 Mutation

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