title: Muscle-Related Polymorphisms (MSTN rs1805086 and ACTN3 rs1815739) Are Not Associated with Exceptional Longevity in Japanese Centenarians.
abstract: Myostatin (MSTN) and α-actinin-3 (ACTN3) genes are potentially associated with preservation of muscle mass and oxidative capacity, respectively. To explore the possible role of these genes in exceptional longevity (EL), the allele/genotype frequency distribution of two polymorphisms in MSTN (rs1805086, K153R) and ACTN3 (rs1815739, R577X) was studied in Japanese centenarians of both sexes (n = 742) and healthy controls (n = 814). The rs1805086 R-allele (theoretically associated with muscle mass preservation at the expense of oxidative capacity) was virtually absent in the two groups, where genotype distributions were virtually identical. Likewise, no differences in allele (p = 0.838 (women); p = 0.193 (men); p = 0.587 (both sexes)) or genotype distribution were found between groups for ACTN3 rs1815739 (p = 0.975 (women), p = 0.136 (men), p = 0.752 (both sexes)). Of note, however, the frequency of the rs1805086 R-allele observed here is the lowest been reported to date whereas that of the 'highly oxidative/efficient' rs1815739 XX genotype in Japanese male centenarians (33.3%) or supercentenarians of both sexes (≥110 years) are the highest (32.6%), for a non-American population. No definite conclusions can be inferred in relation to EL owing to its lack of association with both rs1815739 and rs1805086. However, it cannot be excluded that these gene variants could eventually be related to a "healthy" metabolic phenotype in the Japanese population. Further research might determine if such metabolic profile is among the factors that can potentially predispose these individuals to live longer than Caucasians and what genetic variants might be actually involved.
authors.affiliation: Graduate School of Health and Sports Science, Juntendo University, Chiba, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Fuku
authors.affiliation: School of Medicine and Research Institute "Dr. Viña Giner", Molecular and Mitochondrial Medicine, Catholic University of Valencia San Vicente Mártir, Valencia, Spain.|Servicio de Nefrología, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors.forename: Rafael
authors.initials: R
authors.lastname: Alis
authors.affiliation: School of Doctorate Studies and Research, Universidad Europea de Madrid, Madrid, Spain.
authors.forename: Thomas
authors.initials: T
authors.lastname: Yvert
authors.affiliation: Graduate School of Health and Sports Science, Juntendo University, Chiba, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Zempo
authors.affiliation: Graduate School of Health and Sports Science, Juntendo University, Chiba, Japan.
authors.forename: Hisashi
authors.initials: H
authors.lastname: Naito
authors.affiliation: Center for Supercentenarian Study, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Abe
authors.affiliation: Center for Supercentenarian Study, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Yasumichi
authors.initials: Y
authors.lastname: Arai
authors.affiliation: Department of Health Promotion and Exercise, National Institute of Health Nutrition, Tokyo, Japan.
authors.forename: Haruka
authors.initials: H
authors.lastname: Murakami
authors.affiliation: Department of Health Promotion and Exercise, National Institute of Health Nutrition, Tokyo, Japan.
authors.forename: Motohiko
authors.initials: M
authors.lastname: Miyachi
authors.affiliation: European University of Madrid, Madrid, Spain.|Research Institute of Hospital 12 de Octubre ("i+12"), Madrid, Spain.
authors.forename: Helios
authors.initials: H
authors.lastname: Pareja-Galeano
authors.affiliation: 2E Science, Robbio, Pavia, Italy.
authors.forename: Enzo
authors.initials: E
authors.lastname: Emanuele
authors.affiliation: Center for Supercentenarian Study, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Nobuyoshi
authors.initials: N
authors.lastname: Hirose
authors.affiliation: European University of Madrid, Madrid, Spain.|Research Institute of Hospital 12 de Octubre ("i+12"), Madrid, Spain.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Lucia
mesh_terms: D000185:Actinin / Q000235:genetics*; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008136:Longevity / Q000235:genetics*; D008297:Male; D055435:Myostatin / Q000235:genetics*; D011110:Polymorphism, Genetic; D011159:Population Surveillance
chemical_list: C118456:ACTN3 protein, human; C525911:MSTN protein, human; D055435:Myostatin; D000185:Actinin