Activator

Activators, also called inducers, promote enzyme activity, and in this way accelerate the enzyme’s catalytic reactions.

Allele

Alleles are different variants of a gene. They relate to the same characteristic and are in the same genetic position (locus) on homologous chromosomes.

Analysis, DNA analysis

Study of DNA and its function.

Austria Codex

The official list of approved drugs in Austria.

A-Trust

A-Trust GmbH is an Austrian company offering services for secure communication in the digital and mobile world. A-Trust provides maximum security standards that comply with all EU directives, regulations and laws. The focus is on confidentiality, integrity and comfort, as well as the issuance of secure digital signatures. A-Trust operates in accordance with the Austrian Electronic Signature Law as well as European directives, and is an accredited certification provider for qualified certificates in Austria and Liechtenstein. A-Trust is subject to regular audits by the Regulatory Authority for Broadcasting and Telecommunications. For further information, please visit: www.a-trust.at.

Biomarkers

Biomarkers are genetic, physiological, biochemical or anatomical characteristics used as indicators of disease or functional conditions in the body.

Blockers

Blockers, also called inhibitors, can slow or prevent enzyme activity.

Chromosome

A chromosome represents a genetic organizational unit. It is a long DNA strand (double helix) twisted around a multiplicity of core proteins (histones), and wound into a compact spiral shape. Humans usually have 22 pairs of chromosomes and two sex chromosomes (XX or XY), giving a total of 46 chromosomes per cell.

Chronic illness

Chronic illnesses are prolonged processes that lead to a restriction of the function of individual organs or organ complexes. They are clearly distinguishable from acute illnesses.

Cytochrome-P-450 (CYP) enzymes

Cytochrome-P-450s (CYPs) are enzymes involved in drug metabolism. There is often a high degree of genetic polymorphism within CYPs, which plays a significant role in the variation of drug metabolism between individuals.

Some CYPs are inducible by such things as barbiturates, griseofulvin, phenytoin, rifampicin, cigarette smoke ingredients and foods such as broccoli. Other CYPs are inhibitable by such things as macrolide antibiotics, chloramphenicol, cimetidine and foods such as grapefruit juice.

Diffusion

Diffusion is the passive transport of an active substance from a region of higher concentration to a region of lower concentration (across concentration gradients).

DNA

Deoxyribonucleic acid, or DNA. DNA is the carrier of our genetic information, our genes. DNA consists of deoxyribonucleotides: four bases (adenine (A), guanine (G) (purine), cytosine (C), thymine (T) (pyrimidine)), sugar (deoxyribose) and phosphate. The bases of two strands form hydrogen bonds with one another (A with T and G with C). DNA is double-stranded and has the form of a double helix.

Elimination

The body wants to free itself from foreign substances. It often converts substances into less-toxic metabolic products (metabolism) and improves their excretion.

European Medicines Agency (EMA)

The European Medicines Agency (EMA) was established in 1993 and is (still) based in London. It assesses and monitors all medicinal products in the European Union and plays a key role in the approval process of medicinal products for Europe-wide approval.

Enzyme

Enzymes are – according to their chemical nature – proteins that help to cleave, alter and break down substrates. Enzymes are specialized and thus can only convert specific substrates (substrate specificity) or catalyze specific reactions (effect specificity).

Epigenetics

Epigenetics are hereditary genetic modifications, other than within the DNA sequence, that affect the phenotype.

Extensive Metabolizer

Extensive metabolizers are individuals who have normal enzyme activity and for whom the dosage of medication (and pro-drugs) may be prescribed according to approved uses.

No dosage adjustment is required from a pharmacogenetic viewpoint. Extensive metabolizers are also called normal metabolizers and belong to the wild type phenotype.

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Gene

Genes are units of hereditary/genetic information responsible for the formation of all cellular and extracellular proteins and RNA molecules of a cell. Genes are inherited.

Genetic analysis

Genetic analyses are molecular genetic studies for the detection of changes in the genome (the DNA).

Genetic engineering

Genetic engineering is a subgroup of biotechnology and is based on knowledge of molecular biology and genetics. It describes specific interventions in the genome and in the biochemical control processes of living beings. Genetic engineering is applied in agriculture, industry, waste management, marine biology, and in medicine and pharmaceuticals.

Genetic predisposition

Inherited susceptibility to developing certain illnesses.

Genotype

The genetic make-up, i.e. the individual genetic profile that is found in the cell nucleus of every human being, is called a genotype. This is different from the phenotype (see Phenotype).

Heterozygous

A mutation is heterozygous if it affects only one of the two alleles.

Homozygous

A mutation is homozygous if it affects both alleles, i.e. both homologous chromosomes.

Inhibitor

Inhibitors, also called blockers, can slow or prevent enzyme activity.

Intermediate Metabolizer

Intermediate metabolizers are individuals with reduced activity of certain enzymes. The dosage of medications that are metabolized by these enzymes may require adjustment.

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Liquid Biopsy

Liquid Biopsy is used to detect tumor cells/DNA in the blood. This makes it possible to recognize the existence of tumors, whether or not visual localization is possible.

Metabolism

Metabolism refers to all chemical processes in the body and describes the conversion of chemical substances into metabolites (intermediate products or end products). Enzymes play an important role in this as they guide and accelerate these processes. Metabolism can be divided into two reactions. The phase I reaction (introduction of functional groups) is often the prerequisite for subsequent conjugation (phase II reaction).

Metabolism

The transport and chemical transformation of substances in the organism is referred to as metabolism.

Metabolization

Metabolization is the conversion and breakdown of substances by the body’s own enzymes.

Mutation

Mutations are changes in DNA segments (for example, altered base sequence, exchange of bases, etc.) occurring randomly during or after cell formation. They can be neutral, disadvantageous or advantageous. Mutations are responsible for genetic variability and diversity and because of this are the cornerstones of evolution.

Multimorbidity

The simultaneous existence of several illnesses in one patient. Common in geriatric patients due to the accumulation of degenerative diseases during ageing.

Normal Metabolizer

Normal metabolizer is synonymous with extensive metabolizer. Normal metabolizers are individuals who have normal enzyme activity and for whom the dosage of medication (and pro-drugs) may be prescribed according to their approved uses.

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PCR

PCR, polymerase chain reaction, is a molecular biological process for amplifying genetic material

Personalized medicine

In personalized medicine, a patient’s individual circumstances are taken into account as much as possible.

When treating with medication, the patient’s physiology, as well as the medication’s gender-specific characteristics are considered in addition to the overall clinical picture. A pharmacogenetic analysis optimizes treatment because it gives the attending doctor information needed for precise, individualized treatment.

Pharmacodynamics

Pharmacodynamics describes the effect a drug has on organisms. It includes the mechanism of action, the effective quality and the effective intensity of a drug.

Pharmacogenetics

Pharmacogenetics is a subfield of pharmacology. Pharmacogenetics is concerned with the influence that the genetic features of genes have on the effects of medications.

Pharmacokinetics

Pharmacokinetics describes the effect of organisms on active substances. In other words, the manner in which the body reabsorbs, distributes and eliminates an active substance.

Pharmacology

Pharmacology is the study of effects and interactions of medications and their influence on feedback systems in the body.

Clinical pharmacology is the study of the effects and interactions of medications and their use for various illnesses.

Phenotype

A phenotype is the physical manifestation of a living being and results from the genotype. Whether morphological or physiological characteristics are inherited or acquired is irrelevant.

In pharmacogenetics, the following metabolic phenotypes are distinguished: Poor, extensive (normal), intermediate and ultra rapid metabolizer.

Physiology

Physiology is the study of bodily function and feedback systems under normal conditions (non-pathological conditions).

Polymorphism

Polymorphisms are sequence variations in genes that determine the genetic profile of a person.

Polypharmacy

Polypharmacy describes the simultaneous use of several medications.

Poor Metabolizer

Poor metabolizers are individuals who have no activity for a particular enzyme. Active substances are therefore not broken down by these enzymes. The person concerned needs a greatly reduced dose of the active substance or a drug alternative in order to avoid overdosing and achieve the desired treatment effect. With pro-drugs the working ingredient cannot be activated, so there is little to no effect.

Preanalysis

A part of the diagnostic process which precedes the actual analysis.

Pre-treatment discussion

In a pre-treatment discussion, the attending physician informs his or her patient about any planned diagnostic and/or therapeutic interventions.

Pro-drug

Pro-drugs are medications that are inactive in their administered form and are only first converted into an active form by metabolization (clopidogrel, for example). They are mainly used to improve the pharmacokinetic parameters of a drug.

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Resorption

Resorption is the uptake of an active substance into the bloodstream. The most important resorption barrier is the lipid membrane.

Results

Issuance of results, i.e. the written results of a medical examination.

RNA

Ribonucleic acid, or RNA, consists of ribonucleotides: four bases (adenine (A), guanine (G) (purine), cytosine (C), uracil (U) (pyrimidine)), sugar (ribose) and phosphate.

Side effect

Side effects are undesirable effects of a medication, which may or may not be associated with the desired main effect. In Austria, approximately €900 million per year is spent to combat such side effects.

Substance

In pharmacology, the word “substance” is equivalent to “active substance.”

Substrate

Substrates are substances that are converted by enzymes and the reactions that they catalyze.

Therapeutic window

The therapeutic window is the range of concentrations at which an active substance has therapeutic effects. If the concentration of the active substance is beyond this range, it is very likely that there will be side effects. If the concentration is below this range, it is unlikely that there will be an adequate effect.

Therapeutic Index

The therapeutic index is a relative measure of how safe a medication is to use. The higher the number is, the greater the difference is between safe dosages and dangerous dosages, thus resulting in safer use.

Toxicology

Toxicology is the study of toxins and harmful effects of chemical substances on the organism.

A specialist in toxicology and pharmacology is a doctor specialized in the safe use of medicines.

Ultra Rapid Metabolizer

Ultra rapid metabolizers are individuals who have strongly increased activities of some enzymes. If a drug is broken down by these enzymes, the active substance’s concentration in the blood is lower and there is a risk that the medication will be ineffective. Alternative medications should be used. Pro-drugs maybe activated too strongly in this phenotype.

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Wild type

Definition of an allele that occurs in nature in most individuals and leads to a “normal” phenotype. A person is referred to as “wild type” when they have “normal” metabolism.

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