Metabolic Dysregulation in Amyotrophic Lateral Sclerosis: Challenges and Opportunities

Curr Genet Med Rep. 2017 Jun;5(2):108-114. doi: 10.1007/s40142-017-0123-8. Epub 2017 Apr 28.

Abstract

Purpose of review: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease for which there is no cure and treatments are at best palliative. Several genes have been linked to ALS, which highlight defects in multiple cellular processes including RNA processing, proteostasis and metabolism. Clinical observations have identified glucose intolerance and dyslipidemia as key features of ALS however the causes of these metabolic alterations remain elusive.

Recent findings: Recent studies reveal that motor neurons and muscle cells may undergo cell type specific metabolic changes that lead to utilization of alternate fuels. For example, ALS patients' muscles exhibit reduced glycolysis and increased reliance on fatty acids. In contrast, ALS motor neurons contain damaged mitochondria and exhibit impaired lipid beta oxidation, potentially leading to increased glycolysis as a compensatory mechanism.

Summary: These findings highlight the complexities of metabolic alterations in ALS and provide new opportunities for designing therapeutic strategies based on restoring cellular energetics.

Keywords: ALS; C9orf72; SOD1; TDP-43; glycolysis; lipid metabolism; mitochondria; motor neuron.