YIN-HSIU CHIENDER-SHENG HANWUH-LIANG HWUThurberg B.L.WEI-SHIUNG YANG2020-03-312020-03-3120131932-6203https://www.scopus.com/inward/record.uri?eid=2-s2.0-84881534383&doi=10.1371%2fjournal.pone.0071900&partnerID=40&md5=bc6a1b5a8ea1e6c120e216752c38235fhttps://scholars.lib.ntu.edu.tw/handle/123456789/481859Objective:Myostatin and insulin-like growth factor 1 (IGF-1) are serum markers for muscle growth and regeneration. However, their value in the clinical monitoring of Pompe disease - a muscle glycogen storage disease - is not known. In order to evaluate their possible utility for disease monitoring, we assessed the levels of these serum markers in Pompe disease patients receiving enzyme replacement therapy (ERT).Design:A case-control study that included 10 patients with Pompe disease and 10 gender- and age-matched non-Pompe disease control subjects was performed in a referral medical center. Average follow-up duration after ERT for Pompe disease patients was 11.7 months (range: 6-23 months). Measurements of serum myostatin, IGF-1, and creatine kinase levels were obtained, and examinations of muscle pathology were undertaken before and after ERT in the patient group.Results:Compared with control subjects, Pompe disease patients prior to undergoing ERT had significantly lower serum IGF-1 levels (98.6 ng/ml vs. 307.9 ng/ml, p = 0.010) and lower myostatin levels that bordered on significance (1.38 ng/ml vs. 3.32 ng/ml, p = 0.075). After ERT, respective myostatin and IGF-1 levels in Pompe disease patients increased significantly by 129% (from 1.38 ng/ml to 3.16 ng/ml, p = 0.047) and 74% (from 98.6 ng/ml to 171.1 ng/ml, p = 0.013); these values fall within age-matched normal ranges. In contrast, myostatin and IGF-1 serum markers did not increase in age-matched controls. Follistatin, a control marker unrelated to muscle, increased in both Pompe disease patients and control subjects. At the same time, the percentage of muscle fibers containing intracytoplasmic vacuoles decreased from 80.0±26.4% to 31.6±45.3%.Conclusion:The increase in myostatin and IGF-1 levels in Pompe disease patients may reflect muscle regeneration after ERT. The role of these molecules as potential therapeutic biomarkers in Pompe disease and other neuromuscular diseases warrants further study. ? 2013 Chien et al.[SDGs]SDG3creatine kinase; follistatin; myostatin; recombinant glucan 1,4 alpha glucosidase; somatomedin C; article; case control study; child; clinical article; controlled study; enzyme replacement; female; follow up; glycogen storage disease type 2; human; human tissue; infant; male; preschool child; protein blood level; Adolescent; Adult; Biological Markers; Case-Control Studies; Child; Child, Preschool; Enzyme Replacement Therapy; Female; Glycogen Storage Disease Type II; Humans; Infant; Insulin-Like Growth Factor I; Male; Myostatin; Young Adultjournal article10.1371/journal.pone.0071900239672612-s2.0-84881534383