, Volume 35, Issue 6, pp 2445–2454 | Cite as

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

  • Nuria Garatachea
  • Tomàs Pinós
  • Yolanda Cámara
  • Gabriel Rodríguez-Romo
  • Enzo Emanuele
  • Giovanni Ricevuti
  • Letizia Venturini
  • Alejandro Santos-Lozano
  • Catalina Santiago-Dorrego
  • Carmen Fiuza-Luces
  • Thomas Yvert
  • Antoni L. Andreu
  • Alejandro LuciaEmail author


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.


Centenarians MSTN Genetics 



This study was funded by the Fondo de Investigaciones Sanitarias (FIS, ref. # PS09/00194).


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Copyright information

© American Aging Association 2013

Authors and Affiliations

  • Nuria Garatachea
    • 1
  • Tomàs Pinós
    • 2
    • 3
  • Yolanda Cámara
    • 2
    • 3
  • Gabriel Rodríguez-Romo
    • 4
  • Enzo Emanuele
    • 5
  • Giovanni Ricevuti
    • 6
    • 7
  • Letizia Venturini
    • 6
    • 7
  • Alejandro Santos-Lozano
    • 1
  • Catalina Santiago-Dorrego
    • 8
  • Carmen Fiuza-Luces
    • 8
  • Thomas Yvert
    • 8
  • Antoni L. Andreu
    • 2
    • 3
  • Alejandro Lucia
    • 8
    Email author
  1. 1.Facultad de Ciencias de la Salud y del DeporteUniversidad de ZaragozaHuescaSpain
  2. 2.Departament de Patología Mitocondrial i NeuromuscularInstitut de Recerca Hospital Universitari Vall d’HebronBarcelonaSpain
  3. 3.CIBERERBarcelonaSpain
  4. 4.INEFUniversidad PolitécnicaMadridSpain
  5. 5.Department of Health SciencesUniversity of PaviaPaviaItaly
  6. 6.Department of Internal Medicine and Therapeutics, Section of Gerontology and Geriatrics, IDR S. MargheritaUniversity of PaviaPaviaItaly
  7. 7.Cellular Pathophysiology and Clinical Immunology Laboratory, Department of Internal Medicine and TherapeuticsUniversity of PaviaPaviaItaly
  8. 8.School of Doctorate Studies and ResearchUniversidad Europea de MadridMadridSpain

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