Molecular Genetics of CNS Tumours in Malaysia: Key Insights

| Posted in: Science Health Sciences

Journal name: The Malaysian Journal of Medical Sciences
Original article title: What We Know about the Molecular Genetics of Central Nervous System (CNS) Tumours 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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Author:

Sarina Sulong, Abdul Aziz Mohamed Yusoff, Norafiza Zainuddin, Jafri Malin Abdullah, Jain George Pannatil, Hasnan Jaafar, Mohd Nizam Isa


The Malaysian Journal of Medical Sciences:

(A peer-reviewed, open-access journal)

Full text available for: What We Know about the Molecular Genetics of Central Nervous System (CNS) Tumours in Malaysia

Year: 2004

Copyright (license): CC BY 4.0


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Summary of article contents:

Introduction

The emergence of the genomic era has significantly advanced our understanding of the molecular genetics involved in the progression of diseases, particularly central nervous system (CNS) tumors. CNS tumors are among the most aggressive cancers, and research suggests that their progression is influenced by a series of genetic alterations, notably the activation of oncogenes, inactivation of tumor suppressor genes, and the expression of specific molecular markers like telomerase activity. This paper reviews recent literature and studies on molecular genetic analyses focused on CNS tumors, highlighting the role of specific tumor suppressor genes, particularly p53 and PTEN, and examining telomerase activity in tumor samples from Malaysian patients.

The Role of Tumor Suppressor Genes

A significant finding in the study of CNS tumors is the involvement of tumor suppressor genes, particularly the p53 and PTEN genes. The p53 gene, frequently mutated in various cancers, plays a crucial role in regulating cellular functions and maintaining genomic stability. In the context of astrocytomas, mutations in the p53 gene are prevalent, with approximately 40% of tumors exhibiting such alterations. On the other hand, PTEN gene alterations were found to be common among malignant gliomas, with specific mutations observed in critical exons. Interestingly, the study reported an absence of p16 gene alterations in CNS tumors, indicating that it may not significantly contribute to tumorigenesis in this population. The research underlines the complex interactions between genetic mutations in tumor suppressor genes and the overall development of CNS tumors.

Conclusion

The data presented in this study emphasize the importance of molecular genetics in understanding CNS tumors and their underlying mechanisms. The strong correlation between the alterations in tumor suppressor genes, such as p53 and PTEN, and the presence of telomerase activity suggests potential avenues for future research and clinical applications in neuro-oncology. These findings highlight the necessity for a collaborative approach between basic scientists and clinicians to translate molecular findings into effective patient management strategies, potentially improving the diagnosis and treatment of CNS tumors in Malaysia and beyond. Continued research efforts may uncover further insights that could lead to innovative therapeutic targets and enhance patient outcomes.

FAQ section (important questions/answers):

What are central nervous system (CNS) tumours and their types?

CNS tumours originate in the brain and spinal cord, primarily categorized as gliomas and meningiomas. Gliomas include different grades of astrocytomas, while meningiomas are mostly benign and slow-growing tumours classified as grade I.

What are the key genetic alterations in CNS tumours?

CNS tumours often exhibit genetic alterations, notably mutations in tumour suppressor genes like p53 and PTEN, along with telomerase activity. These alterations contribute to tumour progression and malignancy.

How prevalent are mutations in the p53 gene in gliomas?

Mutations in the p53 gene occur in approximately 40% of astrocytic tumours, commonly via missense mutations, which allow the accumulation of mutant p53 protein, potentially affecting tumour development.

What was discovered regarding the p16 gene in CNS tumours?

In a study of 50 CNS tumour samples, no alterations of the p16 gene through mutations or deletions were found, suggesting it may not play a significant role in the tumorigenesis of malignant gliomas in Malaysian patients.

Glossary definitions and references:

Scientific and Ayurvedic Glossary list for “Molecular Genetics of CNS Tumours in Malaysia: Key Insights”. 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) Mutation:
Mutation refers to changes in the DNA sequence of a gene, which can lead to alterations in protein function or regulation. In the context of CNS tumors, mutations in specific tumor suppressor genes such as p53 and PTEN are shown to contribute to tumor development and progression, making the study of mutations crucial in understanding cancer biology.

2) Cancer:
Cancer is characterized by uncontrolled cell growth and proliferation, ultimately leading to the formation of tumors. CNS tumors, being among the deadliest forms of cancer, require detailed genetic and molecular analyses to understand their etiology, progression, and potential therapeutic targets. The relevance of cancer is underscored in the discussed molecular genetics studies.

3) Activity:
Activity often pertains to the functional state or level of a biological process, such as enzyme functionality. In this study, telomerase activity is critical, as its presence indicates cellular immortality associated with tumorigenesis. The evaluation of telomerase activity can enhance diagnostic and prognostic assessments for CNS tumors.

4) Study (Studying):
The study is a systematic investigation examining the molecular genetics of CNS tumors. It encompasses data analysis, hypothesis testing, and the evaluation of genetic alterations associated with tumor progression. This research is essential for advancing neuro-oncology, providing insights for diagnosis, treatment, and understanding the genetic basis of CNS tumors.

5) Line:
In genetic studies, the term 'line' can refer to a lineage of cells that share a common ancestor or the frame of reference for genetic alterations. In this context, it may refer to the investigation of cellular lines that display specific genetic mutations. Understanding these lines aids in the study of cancer biology.

6) Transformation (Transform, Transforming):
Transformation refers to the process by which normal cells acquire the characteristics of cancerous cells, often driven by genetic changes such as mutations. In the molecular genetics of CNS tumors, understanding the mechanisms of transformation is vital to comprehend how normal cells progress to malignancy.

7) Life:
Life is the characteristic that distinguishes physical entities with biological processes from those without. In cancer research, understanding the mechanisms that regulate cellular life, including growth and division, is significant. Disruptions in these processes often lead to the development of cancers like CNS tumors.

8) Accumulation (Accumulating, Accumulate):
Accumulation refers to the build-up of cellular components or changes, such as mutated proteins or gene alterations. In this context, accumulation of mutated p53 proteins can indicate dysregulation of cellular mechanisms, contributing to tumor progression. Studying these accumulations helps to clarify the pathology of CNS tumors.

9) Developing:
Developing signifies the ongoing process of growth or evolution of a biological subject. In relation to CNS tumors, developing refers to how genetic alterations and molecular changes progress over time, contributing to tumorigenesis. Understanding these developmental processes is crucial for devising treatment strategies.

10) Science (Scientific):
Scientific pertains to systematic knowledge or principles derived from observations and experiments. In the context of this study, scientific methodologies employed in examining molecular genetics provide a foundation for understanding the complexities of CNS tumors, with the aim of enhancing diagnostic and therapeutic approaches.

11) Disease:
Disease refers to a pathological condition that disrupts normal bodily functions. CNS tumors are classified as diseases of the central nervous system, characterized by abnormal cell growth. Understanding the genetic basis of these diseases is essential for developing targeted treatments and improving patient outcomes.

12) Species:
Species encompasses classifications of organisms sharing common characteristics. In cancer research, species can impact the understanding of tumor genetics. Studies may involve various species for comparative analysis, shedding light on the evolution and conservation of genetic mutations relevant to the pathogenesis of CNS tumors.

13) Repair:
Repair refers to the cellular mechanisms that restore normal function following damage, such as DNA repair processes. In the context of tumorigenesis, the ability of genes like p53 to facilitate DNA repair plays a crucial role in preventing the accumulation of mutations, which could otherwise lead to cancer.

14) Death:
Death signifies the cessation of biological functions that sustain a living organism. In cancer research, programmed cell death (apoptosis) is a mechanism that can be disrupted in cancer cells. Understanding how this process is evaded in CNS tumors is pivotal for developing effective cancer therapies.

Other Health Sciences Concepts:

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Discover the significance of concepts within the article: ‘Molecular Genetics of CNS Tumours in Malaysia: Key Insights’. Further sources in the context of Health Sciences might help you critically compare this page with similair documents:

Gene, Mutation, Protein, Cancer diagnosis, Apoptosis, Tumor suppressor gene, Molecular genetics, Telomerase activity, Cell proliferation, Malignant tumor, Tumorigenesis, Cellular function, Cancer progression, Metastasis, Gene mutation, Malignant transformation, Missense mutation, DNA damage, Anticancer therapy, Genetic Analysis, DNA sequencing, Loss of heterozygosity, Cell cycle, Tumor suppressor, Oncogene, Biological mechanism, Serological test, Malignant Tumour, Telomeres, P53 gene, Point mutation, Protein expression, Cancer Prognosis, Genomic era, Tumourigenesis, Anaplastic astrocytoma, Malignant glioma, Tumour suppressor gene, Exon 1, Single-strand conformation polymorphism, Glioma, Genetic alteration, Meningioma, Tumour marker, Genomic stability, Immunostaining, Exons, Exon 2.

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