Association of the K153R polymorphism in the myostatin gene and extreme longevity

Age (Dordr). 2013 Dec;35(6):2445-54. doi: 10.1007/s11357-013-9513-3. Epub 2013 Jan 25.

Abstract

The myostatin (MSTN) gene is a candidate to influence extreme longevity owing to its role in modulating muscle mass and sarcopenia and especially in inhibiting the main nutrient-sensing pathway involved in longevity, i.e. mammalian target of rapamycin. We compared allele/genotype distributions of the exonic MSTN variants K153R (rs1805086), E164K (rs35781413), I225T and P198A, in Spanish centenarians (cases, n = 156; 132 women, age range 100-111 years) and younger adults (controls, n = 384; 167 women, age <50 years). No subject of either group carried a mutant allele of the E164K, I225T or P198A variation. The frequency of the variant R allele was significantly higher in centenarians (7.1%) than in controls (2.7%) (P = 0.001). The odds ratio of being a centenarian if the subject had the R allele was 3.48 (95% confidence interval 1.67-7.28, P = 0.001), compared to the control group, after adjusting for sex. The results were replicated in an Italian cohort (centenarians, n = 79 (40 women), age range 100-104 years; younger controls, n = 316 (155 women), age <50 years), where a higher frequency of the R allele in centenarians (7.6%) compared to controls (3.0%) (P = 0.004) was independently confirmed. Although more research is needed, the variant allele of the MSTN K153R polymorphism could be among the genetic contributors associated with exceptional longevity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged, 80 and over
  • Alleles
  • DNA / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Longevity / genetics*
  • Male
  • Myostatin / genetics*
  • Myostatin / metabolism
  • Phenotype
  • Polymorphism, Genetic*
  • Retrospective Studies
  • Sarcopenia / genetics
  • Sarcopenia / metabolism

Substances

  • MSTN protein, human
  • Myostatin
  • DNA