Towards personalized medicine for amyotrophic lateral sclerosis.

Amyotrophic Lateral Sclerosis / genetics Hereditary Sensory and Autonomic Neuropathies Humans Precision Medicine Sphingolipids
SPTLC1 gene amyotrophic lateral sclerosis siRNA sphingolipids

Journal

Trends in endocrinology and metabolism: TEM
ISSN: 1879-3061
Titre abrégé: Trends Endocrinol Metab
Pays: United States
ID NLM: 9001516

Informations de publication

Date de publication:
11 2021
Historique:
received: 21 06 2021
accepted: 09 07 2021
pubmed: 31 7 2021
medline: 28 4 2022
entrez: 30 7 2021
Statut: ppublish

Résumé

Mohassel et al. provide unprecedented dichotomy of consequences on sphingolipid biosynthesis between pathogenic variants in the SPTLC1 gene, responsible for either amyotrophic lateral sclerosis (ALS) or hereditary sensory and autonomic neuropathy type 1 (HSAN1). Normalization of sphingolipid levels by siRNA selectively targeting the ALS mutant allele mRNA sheds light on new therapeutic approaches.

Identifiants

DOI: 10.1016/j.tem.2021.07.002 PMID: 34325980
pubmed: 34325980
pii: S1043-2760(21)00155-7
doi: 10.1016/j.tem.2021.07.002
pii:
doi:

Substances chimiques

Sphingolipids 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

839-841

Informations de copyright

Copyright © 2021 Elsevier Ltd. All rights reserved.

Auteurs

Julien Cassereau (J)

Department of Neurology, University Hospital, Angers, France; Amyotrophic Lateral Sclerosis (ALS) Center, University Hospital, Angers, France; University of Angers, Institut National de la Santé et de la Recherche Médicale (INSERM) and Centre National de la Recherche Scientifique (CNRS) Mitochondrial and Cardiovascular Physiopathology (MitoVasc) Institute, Angers, France. Electronic address: JuCassereau@chu-angers.fr.

Philippe Corcia (P)

ALS Center, Centre Hospitalier Universitaire (CHU) Bretonneau, Tours, France; INSERM Unit U1253 Imaging and Brain, Tours, France.

Pascal Reynier (P)

University of Angers, Institut National de la Santé et de la Recherche Médicale (INSERM) and Centre National de la Recherche Scientifique (CNRS) Mitochondrial and Cardiovascular Physiopathology (MitoVasc) Institute, Angers, France; Department of Biochemistry and Molecular Biology, University Hospital, Angers, France.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › Towards personalized medicine for amyotrophic...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathies héréditaires sensitives et autonomes › Towards personalized medicine for amyotrophic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Towards personalized medicine for amyotrophic...
questionsmedicales.fr › Professions de santé › Médecine › Médecine clinique › Médecine de précision › Towards personalized medicine for amyotrophic...
questionsmedicales.fr › Lipides › Lipides membranaires › Sphingolipides › Towards personalized medicine for amyotrophic...