Research Paper Volume 9, Issue 7 pp 1738—1744

Werner syndrome: a model for sarcopenia due to accelerated aging

Masaya Yamaga 1, 2, , Minoru Takemoto 1, 3, , Mayumi Shoji 1, 2, , Kenichi Sakamoto 1, 4, , Masashi Yamamoto 1, 2, , Takahiro Ishikawa 1, 2, , Masaya Koshizaka 1, 2, , Yoshiro Maezawa 1, 2, , Kazuki Kobayashi 1, 5, , Koutaro Yokote 1, 2, ,

  • 1 Department of Clinical Cell Biology and Medicine, Chiba University Graduate School of Medicine, Chiba, 260-8670, Japan
  • 2 Department of Medicine, Division of Diabetes, Metabolism and Endocrinology, Chiba University Hospital, Chiba, 260-8670, Japan
  • 3 School of Medicine, International University of Health and Welfare, Department of Diabetes, Metabolism and Endocrinology, Chiba, 286-8686, Japan
  • 4 Eastern Chiba Medical Center, Chiba, 283-8686, Japan
  • 5 Asahi General Hospital, 1326 I, Chiba, 289-2511, Japan

received: June 16, 2017 ; accepted: July 19, 2017 ; published: July 19, 2017 ;

https://doi.org/10.18632/aging.101265
How to Cite

Copyright: Yamaga et al. This is an open‐access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Werner syndrome (WS) is a rare inheritable progeroid syndrome caused by a mutation in the WRN gene. Although WS has been described as a characteristic appearance of very slender extremities with a stocky trunk, few studies have investigated the loss of muscle mass, fat mass distribution (body composition), and mobility according to age and sex. Therefore, the aim of this study was to precisely describe the body composition in WS. Nine Japanese patients with WS (four males and five females; mean age 48±8.8 years) were recruited. Body composition was examined by dual-energy X-ray absorptiometry and computed tomography (CT). The hand grip strength and mobility were evaluated using the two-step test, stand-up test and 25-question geriatric locomotive function scale (GLFS). The mean skeletal muscle index (SMI) was 4.0±0.6 kg/m2. SMI of all patients met the criteria of sarcopenia, even though some patients were aged < 40 years. All patients also showed deceased mobility. In conclusion, these results indicate that all patients with WS, even those aged < 40 years, had already lost muscle mass to the level of sarcopenia. Continued research on sarcopenia in WS might facilitate the discovery of novel mechanisms and development of new treatment strategies for sarcopenia.

Abbreviations

WS: Werner syndrome; CT: computed tomography; SMI: skeletal muscle index; DXA: dual-energy X-ray absorptiometry; mTOR: mammalian target of rapamycin; VFA: visceral fat area; GLFS: geriatric locomotive function scale.