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

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• 作者：Nuria Garatachea (1)
  Tom Pin (2) (3)
  Yolanda Cara (2) (3)
  Gabriel Rodruez-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)
  
• 关键词：Centenarians ; MSTN ; Genetics
• 刊名：AGE
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：35
• 期：6
• 页码：2445-2454
• 全文大小：
• 作者单位：Nuria Garatachea (1)
  Tom Pin (2) (3)
  Yolanda Cara (2) (3)
  Gabriel Rodruez-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)
  
  1. Facultad de Ciencias de la Salud y del Deporte, Universidad de Zaragoza, Huesca, Spain
  2. Departament de Patolog Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall debron, Barcelona, Spain
  3. CIBERER, Barcelona, Spain
  4. INEF, Universidad Politnica, Madrid, Spain
  5. Department of Health Sciences, University of Pavia, Pavia, Italy
  6. Department of Internal Medicine and Therapeutics, Section of Gerontology and Geriatrics, IDR S. Margherita, University of Pavia, Pavia, Italy
  7. Cellular Pathophysiology and Clinical Immunology Laboratory, Department of Internal Medicine and Therapeutics, University of Pavia, Pavia, Italy
  8. School of Doctorate Studies and Research, Universidad Europea de Madrid, 28670 Villaviciosa de Od, Madrid, Spain
  
• ISSN：1574-4647

文摘

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 10011years) and younger adults (controls, n=384; 167 women, age <50years). 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 1.67.28, 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 10004years; younger controls, n=316 (155 women), age <50years), 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.