Department of Biomedical Sciences and Human Oncology, Section of Pediatrics, University of Bari 'A. Moro', Bari, Italy.
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari 'A. Moro', Bari, Italy.
J Endocrinol Invest. 2021 Oct;44(10):2261-2271. doi: 10.1007/s40618-021-01533-4. Epub 2021 Mar 3.
Prader-Willi syndrome (PWS) is associated to distinctive clinical symptoms, including obesity, cognitive and behavioral disorders, and bone impairment. Irisin is a myokine that acts on several target organs including brain adipose tissue and bone. The present study was finalized to explore circulating levels of irisin in children and adult PWS patients.
Seventy-eight subjects with PWS, 26 children (15 females, mean age 9.48 ± 3.6 years) and 52 adults (30 females, mean age 30.6 ± 10.7) were enrolled. Irisin serum levels were measured in patients and controls. Its levels were related with anthropometric and metabolic parameters, cognitive performance and bone mineral density either in pediatric or adult PWS. Multiple regression analysis was also performed.
Irisin serum levels in PWS patients did not show different compared with controls. A more in-depth analysis showed that both pediatric and adult PWS with DEL15 displayed significantly reduced irisin levels compared to controls. Otherwise, no differences in irisin concentration were found in UPD15 patients with respect to controls. Our study revealed that in pediatric PWS the 25(OH) vitamin-D levels affected irisin serum concentration. Indeed, patients who were not supplemented with vitamin D showed lower irisin levels than controls and patients performing the supplementation. Multiple regression analysis showed that irisin levels in pediatric and adult PWS were predicted by the genetic background and 25(OH)-vitamin D levels, whereas in a group of 29 adult PWS also by intelligent quotient.
We demonstrated the possible role of genetic background and vitamin-D supplementation on irisin serum levels in PWS patients.
普拉德-威利综合征(PWS)与独特的临床症状相关,包括肥胖、认知和行为障碍以及骨骼损伤。鸢尾素是一种肌因子,作用于包括脑脂肪组织和骨骼在内的多个靶器官。本研究旨在探讨 PWS 患儿和成人患者循环鸢尾素水平。
纳入 78 例 PWS 患者,其中 26 例为儿童(15 名女性,平均年龄 9.48±3.6 岁),52 例为成人(30 名女性,平均年龄 30.6±10.7 岁)。测量患者和对照组的鸢尾素血清水平。将其水平与儿科或成人 PWS 中的人体测量和代谢参数、认知表现和骨密度相关联。还进行了多元回归分析。
PWS 患者的鸢尾素血清水平与对照组无差异。更深入的分析表明,与对照组相比,DEL15 型的儿科和成人 PWS 患者的鸢尾素水平明显降低。另一方面,与对照组相比,UPD15 型患者的鸢尾素浓度无差异。我们的研究表明,在儿科 PWS 中,25(OH)维生素 D 水平影响鸢尾素血清浓度。事实上,未补充维生素 D 的患者的鸢尾素水平低于对照组和补充维生素 D 的患者。多元回归分析表明,儿科和成人 PWS 患者的鸢尾素水平受遗传背景和 25(OH)-维生素 D 水平的影响,而在 29 例成人 PWS 患者中,还受智商的影响。
我们证明了遗传背景和维生素 D 补充对 PWS 患者血清鸢尾素水平的可能作用。