Pharmacogenetics – individualized treatment of genetic disorders

Biluš, Mirna (2011) Pharmacogenetics – individualized treatment of genetic disorders. Bachelor's thesis, Faculty of Science > Department of Biology.

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Pharmacogenetics is a branch of science that studies the association of genotype with individual response to drug therapy. The potential of pharmacogenetics is great because further research will enable and facilitate individualized treatment of some diseases. Tiopurin S-methyltransferase (TPMT) is an enzyme that inactivates thiopurine drugs and prevents their transformation to toxic products. The TPMT gene exhibits genetic polymorphisms that cause variable enzyme activity. TPMT deficient patients are at high risk of hematologic toxicity and should be treated with reduced dose of thiopurine drugs. Four polymorphic variant TPMT alleles have been most studied because they have the greatest impact on reducing activity of TPMT: TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C. Warfarin, an anticoagulant, acts as an antagonist of vitamin K epoxide reductase complex (VKORC1 subunit). Polymorphisms in CYP2C9 (metabolizes Warfarin) and VKORC1 cause variable patient response. The most common variant alleles for CYPC9 are CYP2C9*2 and CYP2C9*3. Patients with these alleles require a lower dose of drug. VKORC1 variants can be divided into four haplotypes: VKORC1 *1, *2, *3 and *4. VKORC1*1 is considered the reference, while patients with the VKORC1*2 require lower and patients with VKORC1*3 and VKORC1*4 higher warfarin doses. Serotonin transporter (SERT) is the transporter protein in charge of serotonin reuptake. SERT gene polymorphisms affect its expression and function. SERT is the target of some antidepressants. Some studies have shown that polymorphisms in the SERT gene promotor region cause poor response to antidepressants, but because of some conflicting results it is not possible yet to determine the optimal antidepressant dose based on genotype.

Item Type: Thesis (Bachelor's thesis)
Supervisor: Pavlica, Mirjana
Date: 2011
Number of Pages: 12
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Silvana Šehić
Date Deposited: 27 Oct 2014 09:40
Last Modified: 27 Oct 2014 09:40

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