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2. Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III

Author

Ulrike Schara, Stefan A. Wudy, Heike Kölbel, Anastasios Bouikidis, Berthold P. Hauffa, and Adela Della Marina

Subjects
Male, Leptin, 0301 basic medicine, Physiology, Peptide Hormones, medicine.medical_treatment, Medizin, lcsh:Medicine, Spinal Muscular Atrophies of Childhood, 030105 genetics & heredity, Severity of Illness Index, Biochemistry, Body Mass Index, Fats, Endocrinology, 0302 clinical medicine, Weight loss, Medicine and Health Sciences, Insulin, Prospective Studies, Child, lcsh:Science, hirsutism, Multidisciplinary, Organic Compounds, Animal Models, SMA, Lipids, Chemistry, Experimental Organism Systems, Physiological Parameters, Child, Preschool, Physical Sciences, Failure to thrive, Female, Steroids, medicine.symptom, Research Article, Adult, medicine.medical_specialty, Adolescent, Genes, Recessive, Mouse Models, Motor Activity, Research and Analysis Methods, Young Adult, 03 medical and health sciences, Model Organisms, Metabolic Diseases, Internal medicine, medicine, Humans, Obesity, Diabetic Endocrinology, business.industry, Organic Chemistry, Body Weight, lcsh:R, Chemical Compounds, Infant, Correction, Biology and Life Sciences, Survival of motor neuron, medicine.disease, Spinal muscular atrophies, Hormones, Metabolism, lcsh:Q, Energy Metabolism, Physiological Processes, business, 030217 neurology & neurosurgery
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 pubarche 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. OA gold

Published
2017

3. Hyperleptinemia in children with autosomal recessive spinal muscular atrophy type I-III.

Author

Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, and Ulrike Schara

Subjects
Medicine, 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 pubarche 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.

Published
2017
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