NFKBIA Deletion in Glioblastomas analyzes NFKBIA deletion in glioblastomas. The study found that 24.2% of 219 glioblastomas had a deletion of the NFKBIA gene on chromosome 14. NFKBIA suppression was associated with significantly lower gene expression levels in 175 glioblastomas. NFKBIA deletion and EGFR amplification were found to be mutually exclusive alterations specific to the proneural glioblastoma subtype. Future research will further investigate NFKBIA alterations and their role in inducing brain cancer processes and resistance to chemotherapy.
Single Nucleotide Polymorphism (SNP)
Polymorphism is a generic term that means 'many shapes‘. It is the ability to appsear in different form .
A single nucleotide polymorphism (SNP) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome differs between members of a species (or between paired chromosomes in an individual).
For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. For a variation to be considered a SNP, it must occur in at least 1% of the population.
CHARACTERISTICS OF SNP
• In human beings, 99.9 percent bases are same.
• Remaining 0.1 percent makes a person unique.
• Different attributes / characteristics / traits
• How a person looks, diseases he or she develops.
These variations can be:
Harmless (change in phenotype)
Harmful (diabetes, cancer, heart disease, Huntington's disease, and hemophilia )
Latent (variations found in coding and regulatory regions, are not harmful on their own, and the change in each gene only becomes apparent under certain conditions e.g. susceptibility to lung cancer)
TYPES OF SNP
NON-CODING REGION
A segment of DNA that does comprise a gene and thus does not code for a protein .
CODING REGION
Regions of DNA/RNA sequences that code for proteins
Synonymous
A SNP in which both forms lead to the same polypeptide sequence is termed synonymous
(sometimes called a silent mutation).
Non synonymous
If a different polypeptide sequence is produced they are non synonymous . A non synonymous change may either be missense or nonsense, where a missense change results in a different amino acid, while a nonsense change results in a premature stop codon.
SNP Applications
• Gene discovery and mapping
• Association-based candidate polymorphism testing
• Diagnostics/risk profiling
• Response prediction
• Homogeneity testing/study design
• Gene function identification
Introduction
History
Tumor suppressor gene- pRB
- RB gene
- Role of RB in regulation of cell cycle
- Tumor associated with RB gene mutation
Tumor suppressor gene- p53
- What is p53 gene?
- Function of p53 gene
- How it regulates cell cycle
- What happen if p53 gene inactivated
- Cancer associated with p53 mutation
- Conclusion
- References
Single Nucleotide Polymorphism (SNP)
Polymorphism is a generic term that means 'many shapes‘. It is the ability to appsear in different form .
A single nucleotide polymorphism (SNP) is a DNA sequence variation occurring when a single nucleotide - A, T, C, or G - in the genome differs between members of a species (or between paired chromosomes in an individual).
For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. For a variation to be considered a SNP, it must occur in at least 1% of the population.
CHARACTERISTICS OF SNP
• In human beings, 99.9 percent bases are same.
• Remaining 0.1 percent makes a person unique.
• Different attributes / characteristics / traits
• How a person looks, diseases he or she develops.
These variations can be:
Harmless (change in phenotype)
Harmful (diabetes, cancer, heart disease, Huntington's disease, and hemophilia )
Latent (variations found in coding and regulatory regions, are not harmful on their own, and the change in each gene only becomes apparent under certain conditions e.g. susceptibility to lung cancer)
TYPES OF SNP
NON-CODING REGION
A segment of DNA that does comprise a gene and thus does not code for a protein .
CODING REGION
Regions of DNA/RNA sequences that code for proteins
Synonymous
A SNP in which both forms lead to the same polypeptide sequence is termed synonymous
(sometimes called a silent mutation).
Non synonymous
If a different polypeptide sequence is produced they are non synonymous . A non synonymous change may either be missense or nonsense, where a missense change results in a different amino acid, while a nonsense change results in a premature stop codon.
SNP Applications
• Gene discovery and mapping
• Association-based candidate polymorphism testing
• Diagnostics/risk profiling
• Response prediction
• Homogeneity testing/study design
• Gene function identification
Introduction
History
Tumor suppressor gene- pRB
- RB gene
- Role of RB in regulation of cell cycle
- Tumor associated with RB gene mutation
Tumor suppressor gene- p53
- What is p53 gene?
- Function of p53 gene
- How it regulates cell cycle
- What happen if p53 gene inactivated
- Cancer associated with p53 mutation
- Conclusion
- References
Introduction
Definition
History
Two hit hypothesis
Functions
Mutation in tumor suppressor genes
What is mutation
Inherited mutation of TSGs
Acquired mutation of TSGs
What is Oncogenes?
TSGs and Oncogenes : Brakes and accelerators
Stop and go signal
Examples of TSGs:
RB-The retinoblastoma gene
P53 protein
TSGs &cell suicide
Conclusion
References
SNPs are found in
coding and (mostly) noncoding regions.
Occur with a very high frequency
about 1 in 1000 bases to 1 in 100 to 300 bases.
The abundance of SNPs and the ease with which they can be measured make these genetic variations significant.
SNPs close to particular gene acts as a marker for that gene.
SNPs in coding regions may alter the protein structure made by that coding region.
A SNP is defined as a single base change in a DNA sequence that occurs in a significant proportion (more than 1 percent) of a large population. Sequence genomes of a large number of people
Compare the base sequences to discover SNPs.
Generate a single map of the human genome containing all possible SNPs => SNP maps
This presentation consists of topics related to oncogene, proto oncogene, Tumor suppresor gene, Ras gene family and structure and functions of tumor suppressor gene.
TUMORES DE LA CAPA MENINGOTELIAL
SON DEL 13 AL 26% DE LAS NEOPLASIAS INTRACRANEALES
DELECION DEL CROMOSOMA 22q
INMUNOHISTOQUIMICA:
VIM, EMA, CEA, R. Progesterona
MENINGIOMA ATIPICO KI67; 7.2%
MENINGIOMA ANAPLASICO KI 67; 14.7%
KI67 >O IGUAL A 4.2; ALTO
EL HALLAZGO DE INVASION CEREBRAL ES INDICADOR DE RECURRENCIA FRECUENTE (GRADO II OMS).
Synopsis
Introduction
Some Facts
Types of SNPs
SNPs act as gene markers
Methods of Detection
Techniques to detect SNPs
Allelic Specific Cleavage
Differential Hybridization
Single Base Extension or minisequencing
Alternate Methods for Detecting SNPs
Mass Spectrometry
Microchips
SIGNIFICANCE OF SNPs
HAPLOTYPE
ADVANTAGES
Are SNP data available to the public?
Some important SNP database Resources
CONCLUSION
References
Seminario biologia molecular. MicroRNA 197-3p y daño endotelial en la enferme...VALEVEROVILLADAORTIZ
En esta exposición se hace referencia a un artículo en el que se estudió la relación entre el MicroRNA 197-3p y el daño en células endoteliales de arteria coronaria en niños con enfermedad de Kawasaki.
general information regarding single nucleotide polymorphism.
A Single Nucleotide Polymorphisms (SNP), pronounced “snip,” is a genetic variation when a single nucleotide (i.e., A, T, C, or G) is altered and kept through heredity.
ONCOGENE AND PROTOONCOGENE
P53 GENE AND ITS APPLICATION IN CANCER ETIOLOGY
TUMOUR SUPPRESSOR GENE AND BCA AND BAC GENE AND ITS APPLICATION ON THE APOPTOSIS AND DEATH RECEPTORS
Introduction
Definition
History
Two hit hypothesis
Functions
Mutation in tumor suppressor genes
What is mutation
Inherited mutation of TSGs
Acquired mutation of TSGs
What is Oncogenes?
TSGs and Oncogenes : Brakes and accelerators
Stop and go signal
Examples of TSGs:
RB-The retinoblastoma gene
P53 protein
TSGs &cell suicide
Conclusion
References
SNPs are found in
coding and (mostly) noncoding regions.
Occur with a very high frequency
about 1 in 1000 bases to 1 in 100 to 300 bases.
The abundance of SNPs and the ease with which they can be measured make these genetic variations significant.
SNPs close to particular gene acts as a marker for that gene.
SNPs in coding regions may alter the protein structure made by that coding region.
A SNP is defined as a single base change in a DNA sequence that occurs in a significant proportion (more than 1 percent) of a large population. Sequence genomes of a large number of people
Compare the base sequences to discover SNPs.
Generate a single map of the human genome containing all possible SNPs => SNP maps
This presentation consists of topics related to oncogene, proto oncogene, Tumor suppresor gene, Ras gene family and structure and functions of tumor suppressor gene.
TUMORES DE LA CAPA MENINGOTELIAL
SON DEL 13 AL 26% DE LAS NEOPLASIAS INTRACRANEALES
DELECION DEL CROMOSOMA 22q
INMUNOHISTOQUIMICA:
VIM, EMA, CEA, R. Progesterona
MENINGIOMA ATIPICO KI67; 7.2%
MENINGIOMA ANAPLASICO KI 67; 14.7%
KI67 >O IGUAL A 4.2; ALTO
EL HALLAZGO DE INVASION CEREBRAL ES INDICADOR DE RECURRENCIA FRECUENTE (GRADO II OMS).
Synopsis
Introduction
Some Facts
Types of SNPs
SNPs act as gene markers
Methods of Detection
Techniques to detect SNPs
Allelic Specific Cleavage
Differential Hybridization
Single Base Extension or minisequencing
Alternate Methods for Detecting SNPs
Mass Spectrometry
Microchips
SIGNIFICANCE OF SNPs
HAPLOTYPE
ADVANTAGES
Are SNP data available to the public?
Some important SNP database Resources
CONCLUSION
References
Seminario biologia molecular. MicroRNA 197-3p y daño endotelial en la enferme...VALEVEROVILLADAORTIZ
En esta exposición se hace referencia a un artículo en el que se estudió la relación entre el MicroRNA 197-3p y el daño en células endoteliales de arteria coronaria en niños con enfermedad de Kawasaki.
general information regarding single nucleotide polymorphism.
A Single Nucleotide Polymorphisms (SNP), pronounced “snip,” is a genetic variation when a single nucleotide (i.e., A, T, C, or G) is altered and kept through heredity.
ONCOGENE AND PROTOONCOGENE
P53 GENE AND ITS APPLICATION IN CANCER ETIOLOGY
TUMOUR SUPPRESSOR GENE AND BCA AND BAC GENE AND ITS APPLICATION ON THE APOPTOSIS AND DEATH RECEPTORS
Pharmacological Management Of Glioblastoma MultiformeAdwitiyaMitra1
Detailed study about Glioblastoma multiforme with treatments and newer invention in the medicines and the target therapies associated. one can know about symptoms, causes and risk factors of the disease from this presentation.
This presentation describes about Antineoplastic agents, total information about cancer cell formation and activity and drugs treatment for cancer cells.
3. INTRODUCTION GLIOBLASTOMA Tumors are named for the cell types from which they originate. Glioblastomais the general name for a tumor that arises from the glial tissue, which supports and nourishes the brain.
4. INTRODUCTION GLIOBLASTOMA There are several different kinds of glial cells: astrocytes, oligodendrocytes and ependymal cells. Oligodendrocytes Astrocytes Ependymal cells
5. INTRODUCTION GLIOBLASTOMA MULTIPLE Is a malignant astrocytoma that contains areas of dead tumor cells. Gliosarcoma and giantcellglioblastoma are variants of glioblastoma multiforme. Approximately 50% of astrocytomas are glioblastomas.
6. INTRODUCTION GLIOBLASTOMA MULTIPLE Glioblastomas contain more than one cell type. While one cell type may die off in response to a particular treatment, the other cell types may continue to multiply. It makes very difficult the treatment.
7. INTRODUCTION EPIDERMAL GROWTH FACTOR Is a small mitogenic protein that is thought to be involved in mechanisms such as normal cell growth, oncogenesis, and wound healing. It’s over produced in tumors. EGFR pathway actives NFKB.
9. RELATION When it is inactive, NF-KB is located in the cytoplasm. Whereas, it is active is transported to the nucleus, where it gets in contact with EGFR and increased its action. In tumor cells, the NFKB can induce cellular proliferation
10. RELATION The increased signal in the tumor's cells sent by the EGFR actives the NF-kappa-B receptor, causing the appearance of cancer, in this case, the multiple glioblastoma and the chemotherapy resistance.
17. Tipos de datos: G= Datos del número de copia del gen E= Datos de expresión génica C= Datos clínicos M= O6 metilguanina DNA metiltransferasa S= Secuencia de datos (MGMT)
21. APLICACIÓN DEL INMUNOBLOT Se realizó en el estudio para hallar en los pacientes la presencia del gen NFKBIA. Se sometieron las líneas celulares en SDS, cargado negativamente. De esa manera, se separaron las proteínas según su tamaño y su carga.
23. RESULTADOS En la unidad 1, se tomaron 219 glioblastomas, donde el 24,2% poseen deleción a NFKBIA. se afecta el cromosomas 14, el brazo corto en el loci 13.
24. RESULTADOS La dosis génica se asigna, según la ubicación del cromosoma. La supresión de NFKBIA se asocia a una pérdida significativa de expresión en los 175 glioblastomas en el estudio de un conjunto donde se habían combinado los datos de genes.
25. RESULTADOS Se han distinguido en diferentes estudios, varios subtipos de glioblastomas, como son: clásicos, mesenquimales, neuronales y proneuronales. Donde hay delación en mayor frecuencia en los proneuronales. Las amplificaciones de EGFR son mas comunes en los glioblastomas clásicos. Lo que indica exclusividad para la deleción de NFKBIA y amplificación de EGFR.
26. RESULTADOS Se miraron 3 pacientes. Paciente 1: hay disminución en la acción de NFKBIA. Paciente 2: hay un poco de aumento en NFKBIA, sin importar que haya amplificación de EGFR. Paciente 3: NFKBIA tiene acción en un 100%, ya que hay presencia de este y EGFR no está amplificándose.
30. CONCLUSSION NFKBIA deletionallowsthat NFKB goestonucleus, and it can increase EGFR action, enhacingcellproliferation Analyzingthefour molecular subtypes of glioblastoma, theresearchfoundthat NFKBIA deletion and EGFR amplificationhaveanspecial exclusive foronlyonesubtype.
31. CONCLUSSION The researches of the NFKBIA gene, whose absence causes biological situations similar to the increase of EGFR, contributes to the development of possible solutions to glioblastomas and its Resistance to treatment with temozolamide. In future researches, It will be taken into account not only the alteration of NFKBIA as an inductor of brain neoplasicprocesses. It will be taken into account too the fact that the gene alteration can be found in some variety of tumors such as Hodking lymphoma, Multiple myeloma, melanoma or breast, lung and colon cancer, seeking for efective treatments with bortezomib