Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.

ABSTRACT: 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,

SUBMITTER: Tamargo-Gomez I 

PROVIDER: S-EPMC7672651 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature