In-silico analysis reveals druggable single nucleotide polymorphisms in angiotensin 1 converting enzyme involved in the onset of blood pressure

BMC Research Notes

Olaposi Idowu Omotuyi¹  Oyekanmi Nashiru²  Tinashe Chikowore³  Opeyemi Soremekun⁴  Segun Fatumo⁵  Brenda Udosen⁶  Chinwe Ekenna⁷ 

[1]Department of Biochemistry, Adekunle Ajasin University, Akungba-Akoko, Ondo State, Nigeria

[2]H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria

[3]Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

[4]MRC/Wits Developmental Pathways for Health Research Unit, Department of Pediatrics, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

[5]The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda

[6]The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda

[7]H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria

[8]Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK

[9]The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda

[10]The African Center of Excellence in Bioinformatics of Bamako (ACE-B), University of Sciences, Techniques and Technologies of Bamako, Bamako, Mali

[11]H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria

[12]University at Albany, Albany, NY, USA

关键词: SNP informatics;    Angiotensin-Converting enzyme 1;    Single-nucleotide polymorphisms;    Blood Pressure;   

DOI  :  10.1186/s13104-021-05879-z

来源: Springer

【 摘 要 】

ObjectiveThe Angiotensin 1 converting enzyme (ACE1) gene plays a critical role in regulating blood pressure and thus, it has become a major therapeutic target of antihypertensives. Single nucleotide polymorphisms (SNPs) occurring within a gene most especially at the functional segment of the genes alter the structure–function relationship of that gene.ResultsOur study revealed that five nsSNPs of the ACE1 gene were found to be potentially deleterious and damaging and they include rs2229839, rs14507892, rs12709442, and rs4977 at point mutations P351R, R953Q, I1018T, F1051V, and T1187M. The protein stability predictive tools revealed that all the nsSNPs decreased stability of the protein and the Consurf server which estimates the evolutionary conservation profile of a protein showed that three mutants were in the highly conserved region. In conclusion, this study predicted potential druggable deleterious mutants that can be further explored to understand the pathological basis of cardiovascular disease.

【 授权许可】

CC BY