Single nucleotide polymorphisms

Definition

Single nucleotide polymorphisms, or SNPs, are variations in a single nucleotide that occur at specific positions in the genome. These minor variations can significantly influence an individual's traits, susceptibility to diseases, and response to drugs. SNPs can affect the function of transporters, which are proteins that facilitate the movement of molecules across cell membranes, ultimately impacting how medications are absorbed, distributed, metabolized, and excreted in the body.

5 Must Know Facts For Your Next Test

1. SNPs are the most common type of genetic variation among people, occurring approximately once every 300 nucleotides.
2. The presence of specific SNPs can alter the expression or function of transporters, leading to variability in drug response among individuals.
3. Some SNPs are located in regulatory regions of genes, which can affect how much of a transporter protein is produced.
4. Identifying relevant SNPs can help personalize medication choices, optimizing therapy based on a person's unique genetic makeup.
5. Research shows that certain SNPs are associated with increased risk for adverse drug reactions due to their effect on transporter function.

Review Questions

• How do single nucleotide polymorphisms influence the function of transporters and affect drug response?
  • Single nucleotide polymorphisms can lead to changes in the amino acid sequence of transporter proteins or alter their expression levels. This variability can impact how well a drug is transported across cell membranes, affecting its absorption and distribution. As a result, individuals with different SNPs may respond differently to the same medication, experiencing varying levels of efficacy or side effects based on their unique genetic profile.
• Discuss the implications of single nucleotide polymorphisms in the field of pharmacogenomics.
  • In pharmacogenomics, single nucleotide polymorphisms play a crucial role in understanding how genetic variations affect drug metabolism and response. By identifying SNPs associated with specific transporters, researchers can predict how an individual might respond to certain medications. This knowledge allows for personalized treatment plans that consider a patient's genetic makeup, potentially improving drug efficacy and minimizing adverse effects.
• Evaluate the potential impact of single nucleotide polymorphisms on public health strategies related to medication safety and efficacy.
  • Single nucleotide polymorphisms have significant implications for public health strategies aimed at improving medication safety and efficacy. By incorporating SNP testing into clinical practice, healthcare providers can better tailor treatments to individual patients, reducing the risk of adverse drug reactions and increasing therapeutic success. Furthermore, understanding the prevalence of certain SNPs within populations can inform public health initiatives focused on education about personalized medicine and encourage research into drug development that considers genetic diversity.

Related terms

Transporters:

Proteins that assist in the movement of ions and molecules across cellular membranes, playing a critical role in drug absorption and metabolism.

Pharmacogenomics:

The study of how genes affect a person's response to drugs, including how SNPs can influence drug efficacy and toxicity.

Genetic Variation: Differences in DNA sequences among individuals, including SNPs, that contribute to genetic diversity and can impact health and disease.