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Genetics_Essay - For many people part of their morning...

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For many people, part of their morning routine always includes a hot cup of coffee in order to start another day of their busy lives. Some compounds in coffee, such as caffeic acid and chlorogenic acid, have antioxidant properties that may help protect against heart disease (Sohemy et al., 2007). Caffeine is one of the many reasons as to why coffee is consumed, and it has shown to increase the risk of myocardial infarctions in those individuals with certain mutations in their CYP1A2 gene (Sohemy et al., 2007). The CYP1A2 gene can also lead to cancer as it works with other proteins to biologically activate carcinogenic polycyclic aromatic hydrocarbons (PAHs) (Zhou et al., 2009). The CYP1A2 gene codes for a protein, which is a member of the cytochrome P450 superfamily of enzymes (Ou-Yang et al, 2000). The cytochrome P450 proteins are monooxygenases; these enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and lipids (Kot & Daniel, 2009). CYP1A2 activity can be influenced by a number of factors including hormones, body size, tobacco smoke, coffee intake, and cruciferous vegetables (Hong etl al, 2004). Mutations in the CYP1A2 gene, particularly the single nucleotide polymorphism (SNP) from adenine to cytosine at position 734 (1F allele) showed an increased risk of non-fatal myocardial infarctions among those homozygous for the allele (Yang et al., 2010). This mutation decreases the inducibilty of the CYP1A2 enzyme, leading to impaired caffeine metabolism, and as a result, those homozygous for the CYP1A2*1A allele (A/A), the wild type, are “rapid” caffeine metabolizers, while those homozygous for the *1F allele (F/F) are considered, “slow” metabolizers (Sohemy et al., 2007). CYP1A2 is located on chromosome 15q24.1 in humans, and has a close link with CYP1A1 by sharing a common 5-flanking region (Zhou et al, 2010). Both CYP1A1
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and CYP1A2 are part of the CYP1A family and are positioned head-to-head, with a distance and of 23.3 kb apart. The CYP1A2 gene contains seven exons and six introns along a gene sequence that is approximately 7.8kb in length (Zhou et al., 2010). Once transcribed into RNA, the exons are spliced, however, portions of the mRNA are not translated, with exon 1 and a portion of exon 7 forming untranslated regions (UTRs) (Browning et al., 2010). The active region is contains C458 and F451 amino acids in exon
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