C9ORF72 protein function and immune dysregulation in amyotrophic lateral sclerosis.
Neurosci Lett
; 713: 134523, 2019 11 20.
Article
em En
| MEDLINE
| ID: mdl-31568865
ABSTRACT
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing disease that affects upper and lower motor neurons eventually leading to paralysis and death by respiratory dysfunction. The most common genetic variant among ALS patients is a hexanucleotide repeat expansion within the first intron of the gene C9ORF72. This expansion elicits a complex cascade of events as a result of both gain- and loss-of-function mechanisms that contribute to neurodegeneration. Increasing evidence suggests that this repeat expansion in C9ORF72 also influences the immune homeostasis. In this review, we consolidate the current understanding of C9ORF72-mediated pathogenesis in both the central nervous system and peripheral immune system and propose mechanisms by which the immune system contributes to ALS.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Proteína C9orf72
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Esclerose Lateral Amiotrófica
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Degeneração Neural
Limite:
Animals
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Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article