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Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.
Isaac Tamargo-Gómez1,2, Álvaro F Fernández1,2, Guillermo Mariño1,2
1Instituto de Investigación Sanitaria del Principado de Asturias, 33011 Oviedo, Spain.
International Journal of Molecular Sciences
|November 5, 2020
Summary
Single nucleotide polymorphisms (SNPs) in autophagy genes are crucial in disease development and treatment response. This review details clinically relevant SNPs impacting cellular homeostasis and human pathologies.
Area of Science:
- Biomedical Research
- Genetics
- Cellular Biology
Background:
- Single nucleotide polymorphisms (SNPs) are increasingly vital in understanding disease origins and treatment efficacy.
- Variations in genes regulating pro-survival pathways, like autophagy, can disrupt cellular homeostasis and lead to pathologies.
- Autophagy, a fundamental cellular process for stress response and component turnover, is frequently dysregulated in diseases such as cancer and neurodegeneration.
Purpose of the Study:
- To compile a comprehensive list of clinically significant single nucleotide polymorphisms (SNPs) within autophagy-related genes.
- To emphasize the implications of genetic variations in autophagy pathways for human health and disease.
Main Methods:
- Literature review of studies identifying single nucleotide polymorphisms (SNPs) in autophagy-related genes.
- Analysis of the clinical relevance and disease associations of identified SNPs.
Main Results:
- Identification of numerous clinically relevant single nucleotide polymorphisms (SNPs) in genes central to the autophagosome/lysosome axis.
- Demonstration of the link between specific SNPs in autophagy genes and various human diseases.
Conclusions:
- Autophagy-related genes harbor clinically significant SNPs that impact disease susceptibility and progression.
- Understanding these SNPs is critical for advancing research in autophagy-related pathologies and therapeutic strategies.
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