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Identifying Oncogenic Missense Single Nucleotide Polymorphisms in Human SAT1 Gene Using Computational Algorithms and
Md Mozibullah1, Marina Khatun1, Md Asaduzzaman Sikder1
1Department of Biochemistry and Molecular Biology, Mawlana Bhashani Science and Technology University, Tangail, Bangladesh.
Cancer Reports (Hoboken, N.J.)
|July 23, 2024
Summary
This study identified the I21N variant in the SAT1 gene as a detrimental, oncogenic missense variant. This finding provides crucial insights into cancer mechanisms and personalized medicine development.
Area of Science:
- Genetics and Molecular Biology
- Biochemistry
- Computational Biology
Background:
- The SAT1 gene encodes spermidine/spermine N1-acetyltransferase 1 (SSAT1), crucial for polyamine catabolism.
- Polyamines regulate vital cellular processes including proliferation and survival, and SSAT1 dysfunction is linked to diseases like cancer.
- Missense single nucleotide polymorphisms (SNPs) can impair protein structure and function, contributing to various pathologies.
Purpose of the Study:
- To computationally identify functionally detrimental and pathogenic missense SNPs in the human SAT1 gene.
- To specifically filter missense SNPs within the SAT1 gene that may lead to disease.
Main Methods:
- Utilized in silico analysis to screen missense SNPs in the human SAT1 gene.
- Employed stability and evolutionary conservation analysis, alongside molecular dynamics simulations.
Main Results:
- The rs757435207 (I21N) variant was identified as the most deleterious and pathogenic by all computational tools.
- The I21N variant was found to decrease protein stability, reside in a highly conserved region, and cause significant alterations in SSAT1's conformational dynamics.
- These changes suggest the I21N variant could disrupt the native functions of the SSAT1 enzyme.
Conclusions:
- The I21N variant is concluded to be an oncogenic missense variant of the human SAT1 gene.
- This research serves as a guide for future experimental studies aimed at developing personalized cancer medicine.
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