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Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies
Evangelia Eirini Tsermpini1, Sara Redenšek1, Vita Dolžan1
1Pharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Abstract:
Tardive dyskinesia is a severe motor adverse event of antipsychotic medication, characterized by involuntary athetoid movements of the trunk, limbs, and/or orofacial areas. It affects two to ten patients under long-term administration of antipsychotics that do not subside for years even after the drug is stopped. Dopamine, serotonin, cannabinoid receptors, oxidative stress, plasticity factors, signaling cascades, as well as CYP isoenzymes and transporters have been associated with tardive dyskinesia (TD) occurrence in terms of genetic variability and metabolic capacity. Besides the factors related to the drug and the dose and patients' clinical characteristics, a very crucial variable of TD development is individual susceptibility and genetic predisposition. This review summarizes the studies in experimental animal models and clinical studies focusing on the impact of genetic variations on TD occurrence. We identified eight genes emerging from preclinical findings that also reached statistical significance in at least one clinical study. The results of clinical studies are often conflicting and non-conclusive enough to support implementation in clinical practice.
Insights
Genetic variations influence tardive dyskinesia (TD) development, a motor side effect of antipsychotics. While preclinical studies identified eight genes, clinical findings remain inconsistent for practical application.
Area of Science:
- Neuroscience
- Pharmacology
- Genetics
Background:
- Tardive dyskinesia (TD) is a serious motor adverse event linked to long-term antipsychotic use.
- Characterized by involuntary movements, TD can persist even after medication cessation.
- Genetic predisposition and individual susceptibility are key factors in TD development.
Purpose of the Study:
- To review and synthesize findings on the impact of genetic variations on tardive dyskinesia occurrence.
- To identify genes implicated in TD from both preclinical and clinical research.
Main Methods:
- Review of experimental animal models investigating genetic factors in TD.
- Analysis of clinical studies examining the association between genetic variations and TD incidence.
- Identification of genes with consistent findings across preclinical and clinical research.
Main Results:
- Eight genes emerged from preclinical research and showed statistical significance in at least one clinical study.
- Clinical study results regarding genetic associations with TD are frequently conflicting and inconclusive.
- Current evidence is insufficient for direct clinical implementation.
Conclusions:
- Genetic variations play a role in tardive dyskinesia susceptibility.
- Further robust clinical research is needed to validate genetic markers for TD risk assessment.
- Translating genetic findings into clinical practice for TD prevention or management remains a challenge.
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