CYP2D6 Polymorphisms' Impact on Schizophrenia Symptoms in Malaysia
Journal name: The Malaysian Journal of Medical Sciences
Original article title: Influence of CYP2D6 polymorphisms on symptomatology and side-effects of patients with schizophrenia in Malaysia
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Original source:
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Zalina Zahari, Mohd Razali Salleh, Lay Kek Teh, Rusli Ismail
The Malaysian Journal of Medical Sciences:
(A peer-reviewed, open-access journal)
Full text available for: Influence of CYP2D6 polymorphisms on symptomatology and side-effects of patients with schizophrenia in Malaysia
Year: 2009
Copyright (license): CC BY 4.0
Download the PDF file of the original publication
Summary of article contents:
Introduction
Schizophrenia is a complex, highly heritable mental disorder influenced by both genetic predispositions and environmental factors. Despite extensive research, specific genetic mutations responsible for schizophrenia remain unidentified, suggesting a polygenic and multifactorial inheritance pattern. Pharmacological treatment primarily involves antipsychotic medication; however, patients vary significantly in their clinical responses, leading to suboptimal management and the development of treatment-related side effects. This study investigates the role of cytochrome P450 2D6 (CYP2D6) polymorphisms in influencing symptoms and side effects in patients with schizophrenia undergoing antipsychotic therapy.
Association of CYP2D6 Polymorphisms with Negative Symptoms
The study found a significant association between CYP2D6 polymorphisms and the subtotal negative score of the Positive and Negative Symptoms Scale (PANSS) in patients with schizophrenia. Notably, patients with the ultrarapid metabolizer (UM) phenotype exhibited higher mean values in PANSS scores, specifically regarding emotional withdrawal, poor rapport, and other negative symptoms. This finding contrasts with other studies that reported no significant links between CYP2D6 alleles and schizophrenia symptom severity, suggesting that CYP2D6 polymorphisms may influence treatment response and severity of negative symptoms. Importantly, the study did not find an association between CYP2D6 variations and extrapyramidal side effects or akathisia, indicating that the genetic influence primarily pertains to the effectiveness of antipsychotic treatment rather than adverse drug reactions.
Conclusion
In conclusion, CYP2D6 polymorphisms may serve as predictive markers for treatment outcomes in schizophrenia, particularly regarding negative symptomatology. However, the small sample size and cross-sectional nature of the study suggest that further research is required to validate these results and explore the intricate relationship between CYP2D6 activity and the psychopathology of schizophrenia. Future studies should aim to include larger cohorts and utilize longitudinal designs to provide a more comprehensive understanding of the genetic factors influencing treatment response and side effects in this complex mental health condition.
FAQ section (important questions/answers):
What was the main objective of the study on CYP2D6 polymorphisms?
The study aimed to investigate the association of CYP2D6 polymorphisms with symptoms and side-effects experienced by patients with schizophrenia undergoing antipsychotic treatment.
How were the symptoms of schizophrenia evaluated in the study?
Psychopathology was evaluated using the Positive and Negative Symptoms Scale (PANSS) and side effects were assessed with the Simpson Angus Scale (SAS) and Barnes Akathisia Rating Scale (BARS).
What were the key findings related to CYP2D6 polymorphisms?
The study found significant associations between CYP2D6 polymorphisms and negative PANSS scores, suggesting these polymorphisms may influence treatment response for schizophrenia.
Did the study find a relationship between CYP2D6 and side effects?
No significant associations were found between CYP2D6 polymorphisms and antipsychotic side effects, as most patients reported low side effect incidents during the assessment.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “CYP2D6 Polymorphisms' Impact on Schizophrenia Symptoms in Malaysia”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Drug:
Drug refers to any substance that causes a physiological change in the body. In the context of the study, drugs are central as they include antipsychotics used in treating schizophrenia. Understanding how genetic variations, like CYP2D6 polymorphisms, affect drug metabolism is vital for optimizing pharmacotherapy and minimizing side effects.
2) Study (Studying):
Study denotes a systematic investigation into a particular subject. This research focuses on the genetic association of CYP2D6 polymorphisms with schizophrenia symptoms and treatment outcomes. The findings from this study contribute to a broader understanding of pharmacogenetics in mental health, informing future treatment protocols for schizophrenia management.
3) Table:
Table refers to a systematic arrangement of data or information. In this study, tables present demographic and clinical characteristics of participants, along with statistical analyses of CYP2D6 polymorphisms and PANSS scores. These visual summaries facilitate understanding complex relationships and results, aiding in the interpretation of the study's findings.
4) Activity:
Activity in this context refers to the biological function or metabolic capability of the CYP2D6 enzyme. Variations in CYP2D6 polymorphisms influence enzyme activity, which in turn affects how individuals metabolize antipsychotic drugs. The study highlights the importance of enzyme activity in predicting treatment responses and the risk of side effects.
5) Family:
Family plays a significant role in mental health, as genetic predispositions can be inherited. In this study, a positive family history of schizophrenia was assessed among participants. Understanding familial links can aid in identifying individuals at risk and enhancing early interventions in schizophrenia and other related disorders.
6) Pur (Pūr):
Poor typically describes individuals or conditions with limited resources or abilities. The study examines ‘poor metabolizers’ (PMs), individuals with certain CYP2D6 genetic variants that result in reduced enzyme function. Identifying PMs is crucial, as these individuals may experience adverse drug responses due to the accumulation of active drug levels.
7) Mutation:
Mutation refers to a change in DNA sequence that can affect gene function. In this study, the focus is on polymorphisms within the CYP2D6 gene that impact drug metabolism. Understanding these mutations helps explain variations in patient responses to antipsychotic medications and can guide personalized treatment strategies.
8) Disease:
Disease denotes a pathological condition that disrupts normal physiological functions. Schizophrenia, investigated in this study, is a complex mental illness characterized by symptoms like delusions and hallucinations. Recognizing the genetic factors underlying schizophrenia is essential for developing effective treatments aimed at alleviating these debilitating symptoms.
9) Ter:
Ther likely refers to therapeutic approaches or pharmacotherapy. The study emphasizes the need for personalized medicine in schizophrenia treatment based on genetic factors like CYP2D6. Understanding the therapeutic implications of pharmacogenetics can lead to better management strategies and improved quality of life for individuals with schizophrenia.
10) Substance:
Substance typically refers to chemical compounds, including drugs that affect body functions. The context here includes substances like antipsychotic medications used in treating schizophrenia. Identifying how genetic variability influences responses to these substances is essential for enhancing treatment efficacy and minimizing adverse effects.
11) Blood:
Blood is crucial in the study for genetic testing purposes; DNA is extracted from blood samples to analyze CYP2D6 polymorphisms. This genetic analysis enables researchers to examine associations between these polymorphisms and schizophrenia symptoms, underlining the importance of biological samples in pharmacogenetic research.
12) Pharmacotherapy:
Pharmacotherapy involves treating diseases with drugs. The study highlights pharmacotherapy's role in managing schizophrenia and emphasizes the potential for pharmacogenetic insights to optimize drug selection and dosing. This approach aims to improve treatment efficacy while minimizing adverse effects based on individual genetic makeup.
13) Pharmacological:
Pharmacological pertains to the study of drugs and their effects. In this research, the pharmacological focus is on antipsychotic medications used in treating schizophrenia. Understanding the pharmacodynamics and pharmacokinetics influenced by genetic variations in CYP2D6 is essential to enhance drug therapy for affected patients.
14) Pharmacology:
Pharmacology is the branch of medicine concerned with the study of drugs and their actions. This study contributes to pharmacology by examining how genetic factors, specifically CYP2D6 polymorphisms, influence the efficacy and safety of psychiatric medications, ultimately shaping personalized treatment protocols in mental health care.
15) Observation:
Observation in this context refers to the systematic measurement and assessment of clinical outcomes. This study observes the relationship between CYP2D6 genotypes and schizophrenia symptom severity, contributing important data to understand how genetic factors may influence individual treatment responses and overall patient management.
16) Knowledge:
Knowledge encompasses the information and understanding gained through research and study. The study aims to enhance knowledge of pharmacogenetics in schizophrenia, providing insights into how genetic variations impact treatment outcomes. This accumulation of knowledge is crucial for improving clinical practices and patient care in psychiatric settings.
17) Education:
Education here refers to learning about the genetic aspects of drug metabolism and treatment outcomes in schizophrenia. Increasing awareness and understanding among healthcare providers regarding pharmacogenetics can lead to better-informed decisions regarding medication management, fostering a more tailored approach to psychiatric treatment.
18) Attending:
Attending refers to the act of participating in a service or program. In this study, patients attending a psychiatric clinic were recruited for the research. Their participation is essential for gathering data on treatment responses and outcomes, allowing for a better understanding of schizophrenia management in clinical settings.
19) Relative:
Relative signifies a family connection. In the study, having a positive family history of schizophrenia was a variable of interest. Understanding familial relationships and genetic predispositions aids in constructing comprehensive management strategies for individuals, allowing for early interventions based on familial prevalence of the disease.
20) Science (Scientific):
Science denotes a systematic enterprise that builds and organizes knowledge in the form of testable explanations and predictions. This study exemplifies the intersection of genetic research and clinical psychiatry, illustrating the scientific endeavor to unravel complex relationships between genes, drug metabolism, and mental health outcomes.
21) Indian:
Indian may reference the demographic context of pharmacogenetic studies, emphasizing diversity in genetic backgrounds. This study's findings are compared with other populations, including Indian ones, to highlight variations in CYP2D6 allele frequencies and treatment responses, pointing towards the need for tailored approaches in different ethnic groups.
22) Campu (Campū, Cāmpu):
Campu likely refers to 'campus,' indicating the educational or research institution involved in the study. This context highlights the significance of academic settings in driving research initiatives aimed at understanding complex health issues like schizophrenia and promoting advancements in personalized medicine through pharmacogenetics.
23) Life:
Life signifies human existence, particularly regarding well-being and health. This study aims to enhance the quality of life for individuals with schizophrenia through improved pharmacotherapy based on genetic understanding. By tailoring treatments, the objective is to minimize symptoms and enhance overall life satisfaction for affected individuals.
24) Line:
Line may refer to a line of research or a lineage of genetic inheritance. In the context of this study, it underscores the importance of genetic lines in understanding disease predisposition and responses to pharmacological treatments, contributing valuable insights to personalized medicine and hereditary influences in mental health.
25) Hand:
Hand metaphorically signifies control or management. This study aims to put 'in the hands' of healthcare professionals actionable knowledge derived from pharmacogenetic research, enabling them to make informed treatment decisions, thereby enhancing the management of schizophrenia and improving outcomes for patients receiving these medications.