MOMINA SHAHID¹, KANWAL REHMAN², MUHAMMAD SAJID HAMID AKASH^1,*, SHALEEM SUHAIL¹, SUMBAL RASHEED¹, MUHAMMAD IMRAN^3,4, MOHAMMED A. ASSIRI^3,4

BIOCELL, Vol.47, No.3, pp. 473-484, 2023, DOI:10.32604/biocell.2023.025930

Abstract Genetic polymorphism has a vital role in the pathogenesis and development of myocardial infarction (MI). Single nucleotide polymorphism at any one of the amino acid sequences can result in a diseased state. A single gene can exhibit genetic polymorphism at more than one position giving rise to different variants. Genetic polymorphism of angiotensinogen (AGT) M235T, AGT T174M, and angiotensin-1-converting enzyme (ACE) I/D, endothelial nitric oxide synthase (eNOS), and methylenetetrahydrofolate reductase (MTHFR) can be a risk factor for MI. However, it is important to study the prevalence of genetic polymorphisms of these genes among different populations. MI is influenced by genetic… More >

AFRAH ALKHURIJI¹, ATEKAH ABDULLAH MOHAMMED ALRAQIBAH¹, AMAAL AWAD ALHARBI¹, ZENEB BABAY², FATIMAH BASIL AL-MUKAYNIZI³, ARWA ALTHOMALI³, SONYA S. ABDEL-RAZEQ⁴, ARJUMAND S. WARSY⁵

BIOCELL, Vol.44, No.4, pp. 613-621, 2020, DOI:10.32604/biocell.2020.09652

Abstract Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common genetic cause of hyperhomocysteinemia, which has been implicated in the etiology of recurrent spontaneous abortion (RSA). This study was designed to investigate the association between two single nucleotide polymorphisms (SNP) (rs1801133 [C677T] and rs1801131 [A1298C]) in the MTHFR gene and RSA, in Saudis. These two SNPs were selected as these polymorphisms have a different effect on the activity and stability of the enzyme, and significantly diverse effects have been reported in relation to the association with RSA. Ethical approval was acquired from the IRB at King Saud University (KKUH), Saudi Arabia, and… More >