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Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review - PubMed

5 hours ago
  • #genetics
  • #microbiota
  • #ALS
  • ALS is a severe neurodegenerative disorder affecting motor neurons, with a median survival of 2 to 5 years.
  • ALS shares clinicopathological features with Frontotemporal Dementia (FTD) due to overlapping molecular processes like oxidative stress and TDP-43 proteinopathy.
  • Key genetic factors in ALS include mutations in C9orf72, SOD1, TARDBP, and FUS, with Tofersen being an approved SOD1-specific gene therapy.
  • The gut-brain connection is significant in ALS, with dysbiosis and lower neuroprotective metabolites like nicotinamide influencing disease progression.
  • Treatment strategies are shifting toward personalized approaches, including gene therapies (ASOs, RNAi, CRISPR) and microbiome-modulating treatments (probiotics, FMT).
  • Microbiome and gene therapies, though experimental, show promise, as seen with the approval of Tofersen.