Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

Research output: Contribution to journalReview article

2 Citations (Scopus)

Abstract

Amyotrophic lateral sclerosis (ALS) is an aggressive neurodegenerative disorder that orchestrates an attack on the motor nervous system that is unrelenting. Recent discoveries into the pathogenic consequences of repeat expansions in C9ORF72, which are the most common genetic cause of ALS, combined with the identification of new genetic mutations are providing novel insight into the underlying mechanism(s) that cause ALS. In particular, the myriad of functions linked to ALS-associated genes have collectively implicated four main pathways in disease pathogenesis, including RNA metabolism and translational biology; protein quality control; cytoskeletal integrity and trafficking; and mitochondrial function and transport. Through the identification of common disease mechanisms on which multiple ALS genes converge, key targets for potential therapeutic intervention are highlighted. As efforts to develop a cure for amyotrophic lateral sclerosis are hampered by the lack of clarity in disease pathogenesis, Cook and Petrucelli review genetic causes and convergence on common pathways, providing insight into the underlying mechanisms that cause disease.

Original languageEnglish (US)
Pages (from-to)1057-1069
Number of pages13
JournalNeuron
Volume101
Issue number6
DOIs
StatePublished - Mar 20 2019

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Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Quality Control
Nervous System
Genes
RNA
Mutation
Proteins

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS. / Cook, Casey; Petrucelli, Leonard.

In: Neuron, Vol. 101, No. 6, 20.03.2019, p. 1057-1069.

Research output: Contribution to journalReview article

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