Recent findings indicate an important role for RNA-mediated gene expression in motor
neuron diseases, including ALS (amyotrophic lateral sclerosis) and SMA (spinal muscular atrophy).
ALS, also known as Lou Gehrig’s disease, is an adult-onset progressive neurodegenerative disorder,
whereby SMA or “children’s Lou Gehrig’s disease” is considered a pediatric neurodevelopmental
disorder. Despite the difference in genetic causes, both ALS and SMA share common phenotypes;
dysfunction/loss of motor neurons that eventually leads to muscle weakness and atrophy. With
advanced techniques in molecular genetics and cell biology, current data suggest that these two distinct
motor neuron diseases share more than phenotypes; ALS and SMA have similar cellular pathological
mechanisms including mitochondrial dysfunction, oxidative stress and dysregulation in RNA-mediated
gene expression. Here, we will discuss the current findings on these two diseases with specific focus on
RNA-mediated gene regulation including miRNA expression, pre-mRNA processing and RNA binding
Keywords: Amyotrophic lateral sclerosis, microRNA, motor neuron disease, mRNA translation, RNA binding proteins, SMN,
Spinal muscular atrophy, TDP-43/FUS.
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