The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently presents itself within the first few months of life and is characterized by progressive muscle weakness. As a neuromuscular condit...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-01-01
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| Series: | Brain Sciences |
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| Online Access: | https://www.mdpi.com/2076-3425/11/2/131 |
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| author | Katherine S. Watson Imane Boukhloufi Melissa Bowerman Simon H. Parson |
| author_facet | Katherine S. Watson Imane Boukhloufi Melissa Bowerman Simon H. Parson |
| author_sort | Katherine S. Watson |
| collection | DOAJ |
| description | Spinal muscular atrophy (SMA) is an autosomal recessive condition that results in pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently presents itself within the first few months of life and is characterized by progressive muscle weakness. As a neuromuscular condition, it prominently affects spinal cord motor neurons and the skeletal muscle they innervate. However, over the past few decades, the SMA phenotype has expanded to include pathologies outside of the neuromuscular system. The current therapeutic SMA landscape is at a turning point, whereby a holistic multi-systemic approach to the understanding of disease pathophysiology is at the forefront of fundamental research and translational endeavours. In particular, there has recently been a renewed interest in body composition and metabolism in SMA patients, specifically that of fatty acids. Indeed, there is increasing evidence of aberrant fat distribution and fatty acid metabolism dysfunction in SMA patients and animal models. This review will explore fatty acid metabolic defects in SMA and discuss how dietary interventions could potentially be used to modulate and reduce the adverse health impacts of these perturbations in SMA patients. |
| first_indexed | 2024-03-09T04:15:31Z |
| format | Article |
| id | doaj.art-ede55ddc25a24457b4a0d5c2f3adf8df |
| institution | Directory Open Access Journal |
| issn | 2076-3425 |
| language | English |
| last_indexed | 2024-03-09T04:15:31Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Brain Sciences |
| spelling | doaj.art-ede55ddc25a24457b4a0d5c2f3adf8df2023-12-03T13:56:05ZengMDPI AGBrain Sciences2076-34252021-01-0111213110.3390/brainsci11020131The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular AtrophyKatherine S. Watson0Imane Boukhloufi1Melissa Bowerman2Simon H. Parson3Institute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UKSchool of Medicine, Keele University, Staffordshire ST5 5BG, UKSchool of Medicine, Keele University, Staffordshire ST5 5BG, UKInstitute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, UKSpinal muscular atrophy (SMA) is an autosomal recessive condition that results in pathological deficiency of the survival motor neuron (SMN) protein. SMA most frequently presents itself within the first few months of life and is characterized by progressive muscle weakness. As a neuromuscular condition, it prominently affects spinal cord motor neurons and the skeletal muscle they innervate. However, over the past few decades, the SMA phenotype has expanded to include pathologies outside of the neuromuscular system. The current therapeutic SMA landscape is at a turning point, whereby a holistic multi-systemic approach to the understanding of disease pathophysiology is at the forefront of fundamental research and translational endeavours. In particular, there has recently been a renewed interest in body composition and metabolism in SMA patients, specifically that of fatty acids. Indeed, there is increasing evidence of aberrant fat distribution and fatty acid metabolism dysfunction in SMA patients and animal models. This review will explore fatty acid metabolic defects in SMA and discuss how dietary interventions could potentially be used to modulate and reduce the adverse health impacts of these perturbations in SMA patients.https://www.mdpi.com/2076-3425/11/2/131spinal muscular atrophysurvival motor neuronfatty acid metabolismnutritiondiet |
| spellingShingle | Katherine S. Watson Imane Boukhloufi Melissa Bowerman Simon H. Parson The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy Brain Sciences spinal muscular atrophy survival motor neuron fatty acid metabolism nutrition diet |
| title | The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy |
| title_full | The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy |
| title_fullStr | The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy |
| title_full_unstemmed | The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy |
| title_short | The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy |
| title_sort | relationship between body composition fatty acid metabolism and diet in spinal muscular atrophy |
| topic | spinal muscular atrophy survival motor neuron fatty acid metabolism nutrition diet |
| url | https://www.mdpi.com/2076-3425/11/2/131 |
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