Journal article

Publication year: 2017

Journal: PLoS ONE

Volume number: 12

Issue number: 3

ISSN: 1932-6203

Open access status: Gold

DOI Link: https://doi.org/10.1371/journal.pone.0173144

Publisher: Public Library of Science

Abstract: 

Background

Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking.

Methods

In 43 patients with SMA type I-III (8 type I; 22 type II; 13 type III), aged 0.6-21.8 years, auxological parameters, pubertal stage, motor function (Motor Function Measurement 32- MFM32) as well as levels of leptin, insulin glucose, hemoglobin A1c, Homeostasis Model Assessment index and an urinary steroid profile were determined.

Results

Hyperleptinemia was found in 15/35 (43%) of our patients; 9/15 (60%) of the hyperleptinemic patients were underweight, whereas 1/15 (7%) was obese. Hyperleptinemia was associated with SMA type (p = 0.018). There was a significant association with decreased motor function (MFM32 total score in hyperleptinemia 28.5%, in normoleptinemia 54.7% p = 0.008, OR 0.969; 95%-CI: 0.946-0.992). In addition, a higher occurrence of hirsutism, premature pub-arche and a higher variability of the urinary steroid pattern were found.

Conclusion

Hyperleptinemia is highly prevalent in underweight children with SMA and is associated with disease severity and decreased motor function. Neuronal degradation of hypothalamic cells or an increase in fat content by muscle remodeling could be the cause of hyperleptinemia.

Harvard Citation style: Koelbel, H., Hauffa, B., Wudy, S., Bouikidis, A., Della Marina, A. and Schara, U. (2017) Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III, PLoS ONE, 12(3), Article e0173144. https://doi.org/10.1371/journal.pone.0173144

APA Citation style: Koelbel, H., Hauffa, B., Wudy, S., Bouikidis, A., Della Marina, A., & Schara, U. (2017). Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III. PLoS ONE. 12(3), Article e0173144. https://doi.org/10.1371/journal.pone.0173144