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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MDPI AG
2020-12-01
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| Series: | Nutrients |
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| Online Access: | https://www.mdpi.com/2072-6643/12/12/3842 |
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| author | Yang-Jean Li Tai-Heng Chen Yan-Zhang Wu Yung-Hao Tseng |
| author_facet | Yang-Jean Li Tai-Heng Chen Yan-Zhang Wu Yung-Hao Tseng |
| author_sort | Yang-Jean Li |
| collection | DOAJ |
| 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 <i>SMN1</i> 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. |
| first_indexed | 2024-03-10T14:02:31Z |
| format | Article |
| id | doaj.art-f10c56447338449586a4554de95c7611 |
| institution | Directory Open Access Journal |
| issn | 2072-6643 |
| language | English |
| last_indexed | 2024-03-10T14:02:31Z |
| publishDate | 2020-12-01 |
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| spelling | doaj.art-f10c56447338449586a4554de95c76112023-11-21T01:02:35ZengMDPI AGNutrients2072-66432020-12-011212384210.3390/nu12123842Metabolic and Nutritional Issues Associated with Spinal Muscular AtrophyYang-Jean Li0Tai-Heng Chen1Yan-Zhang Wu2Yung-Hao Tseng3Department of Pediatrics, Kaohsiung Municipal United Hospital, Kaohsiung 80455, TaiwanDepartment of Pediatrics, Division of Pediatric Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 80708, TaiwanDepartment of Pediatrics, Division of Pediatric Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 80708, TaiwanDepartment of Pediatrics, Division of Pediatric Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 80708, TaiwanSpinal 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 <i>SMN1</i> 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.https://www.mdpi.com/2072-6643/12/12/3842spinal muscular atrophymetabolomicsnutritiontherapeuticsbiomarkers |
| spellingShingle | Yang-Jean Li Tai-Heng Chen Yan-Zhang Wu Yung-Hao Tseng Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy Nutrients spinal muscular atrophy metabolomics nutrition therapeutics biomarkers |
| 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 | spinal muscular atrophy metabolomics nutrition therapeutics biomarkers |
| url | https://www.mdpi.com/2072-6643/12/12/3842 |
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