Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.
Animals
Autophagy
Autophagy-Related Protein 12
/ genetics
Autophagy-Related Protein 5
/ genetics
Autophagy-Related Protein 8 Family
/ genetics
Autophagy-Related Proteins
/ genetics
Cell Membrane
/ metabolism
Cytosol
/ metabolism
Humans
Immune System
Inflammation
Lysosomes
/ metabolism
Polymorphism, Single Nucleotide
Prognosis
Protein Kinase C
/ genetics
ATGs
SNPs
autophagic receptors
autophagy
lysosomes
pathology
polymorphisms
variants
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
02 Nov 2020
02 Nov 2020
Historique:
received:
02
10
2020
revised:
28
10
2020
accepted:
30
10
2020
entrez:
5
11
2020
pubmed:
6
11
2020
medline:
1
4
2021
Statut:
epublish
Résumé
In recent years, the study of single nucleotide polymorphisms (SNPs) has gained increasing importance in biomedical research, as they can either be at the molecular origin of a determined disorder or directly affect the efficiency of a given treatment. In this regard, sequence variations in genes involved in pro-survival cellular pathways are commonly associated with pathologies, as the alteration of these routes compromises cellular homeostasis. This is the case of autophagy, an evolutionarily conserved pathway that counteracts extracellular and intracellular stressors by mediating the turnover of cytosolic components through lysosomal degradation. Accordingly, autophagy dysregulation has been extensively described in a wide range of human pathologies, including cancer, neurodegeneration, or inflammatory alterations. Thus, it is not surprising that pathogenic gene variants in genes encoding crucial effectors of the autophagosome/lysosome axis are increasingly being identified. In this review, we present a comprehensive list of clinically relevant SNPs in autophagy-related genes, highlighting the scope and relevance of autophagy alterations in human disease.
Identifiants
pubmed: 33147747
pii: ijms21218196
doi: 10.3390/ijms21218196
pmc: PMC7672651
pii:
doi:
Substances chimiques
ATG12 protein, human
0
ATG5 protein, human
0
Autophagy-Related Protein 12
0
Autophagy-Related Protein 5
0
Autophagy-Related Protein 8 Family
0
Autophagy-Related Proteins
0
GABARAPL2 protein, human
0
Protein Kinase C
EC 2.7.11.13
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Gobierno del Principado de Asturias
ID : IDI/2018/000159
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