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Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy

Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a neurodegenerative disease characterized by the selective loss of motor neurons in the anterior horn of the spinal cord, accompanied by muscle wasting. Pathomechanically, SMA is caused by low levels of the survival motor neur...

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Autores principales: Li, Yang-Jean, Chen, Tai-Heng, Wu, Yan-Zhang, Tseng, Yung-Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7766651/
https://www.ncbi.nlm.nih.gov/pubmed/33339220
http://dx.doi.org/10.3390/nu12123842
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author Li, Yang-Jean
Chen, Tai-Heng
Wu, Yan-Zhang
Tseng, Yung-Hao
author_facet Li, Yang-Jean
Chen, Tai-Heng
Wu, Yan-Zhang
Tseng, Yung-Hao
author_sort Li, Yang-Jean
collection PubMed
description Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a neurodegenerative disease characterized by the selective loss of motor neurons in the anterior horn of the spinal cord, accompanied by muscle wasting. Pathomechanically, SMA is caused by low levels of the survival motor neuron protein (SMN) resulting from the loss of the SMN1 gene. However, emerging research extends the pathogenic effect of SMN deficiency beyond motor neurons. A variety of metabolic abnormalities, especially altered fatty acid metabolism and impaired glucose tolerance, has been described in isolated cases of SMA; therefore, the impact of SMN deficiency in metabolic abnormalities has been speculated. Although the life expectancy of these patients has increased due to novel disease-modifying therapies and standardization of care, understanding of the involvement of metabolism and nutrition in SMA is still limited. Optimal nutrition support and metabolic monitoring are essential for patients with SMA, and a comprehensive nutritional assessment can guide personalized nutritional therapy for this vulnerable population. It has recently been suggested that metabolomics studies before and after the onset of SMA in patients can provide valuable information about the direct or indirect effects of SMN deficiency on metabolic abnormalities. Furthermore, identifying and quantifying the specific metabolites in SMA patients may serve as an authentic biomarker or therapeutic target for SMA. Here, we review the main epidemiological and mechanistic findings that link metabolic changes to SMA and further discuss the principles of metabolomics as a novel approach to seek biomarkers and therapeutic insights in SMA.
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spelling pubmed-77666512020-12-28 Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy Li, Yang-Jean Chen, Tai-Heng Wu, Yan-Zhang Tseng, Yung-Hao Nutrients Review Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a neurodegenerative disease characterized by the selective loss of motor neurons in the anterior horn of the spinal cord, accompanied by muscle wasting. Pathomechanically, SMA is caused by low levels of the survival motor neuron protein (SMN) resulting from the loss of the SMN1 gene. However, emerging research extends the pathogenic effect of SMN deficiency beyond motor neurons. A variety of metabolic abnormalities, especially altered fatty acid metabolism and impaired glucose tolerance, has been described in isolated cases of SMA; therefore, the impact of SMN deficiency in metabolic abnormalities has been speculated. Although the life expectancy of these patients has increased due to novel disease-modifying therapies and standardization of care, understanding of the involvement of metabolism and nutrition in SMA is still limited. Optimal nutrition support and metabolic monitoring are essential for patients with SMA, and a comprehensive nutritional assessment can guide personalized nutritional therapy for this vulnerable population. It has recently been suggested that metabolomics studies before and after the onset of SMA in patients can provide valuable information about the direct or indirect effects of SMN deficiency on metabolic abnormalities. Furthermore, identifying and quantifying the specific metabolites in SMA patients may serve as an authentic biomarker or therapeutic target for SMA. Here, we review the main epidemiological and mechanistic findings that link metabolic changes to SMA and further discuss the principles of metabolomics as a novel approach to seek biomarkers and therapeutic insights in SMA. MDPI 2020-12-16 /pmc/articles/PMC7766651/ /pubmed/33339220 http://dx.doi.org/10.3390/nu12123842 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Li, Yang-Jean
Chen, Tai-Heng
Wu, Yan-Zhang
Tseng, Yung-Hao
Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy
title Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy
title_full Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy
title_fullStr Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy
title_full_unstemmed Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy
title_short Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy
title_sort metabolic and nutritional issues associated with spinal muscular atrophy
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7766651/
https://www.ncbi.nlm.nih.gov/pubmed/33339220
http://dx.doi.org/10.3390/nu12123842
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