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Researchers have discovered two new bases of DNA, the seventh and eighth. They have also identified a gene, DMRT1, that is required to maintain male sex throughout life. When this gene is lost, male cells take on female characteristics and begin producing female hormones like estrogen. This could help explain certain sexual disorders and cancers related to the development and maintenance of sexual characteristics.
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Mutations in the PINK1 and parkin genes lead to mitochondrial dysfunction and the onset of Parkinson's disease. PINK1 and parkin help maintain mitochondrial integrity and function by promoting mitophagy, the degradation of damaged mitochondria. Mutations in these genes impair this process. Specifically, dysfunctional PINK1 fails to properly regulate mitochondrial turnover. Mutations in parkin inhibit its localization to mitochondria and reduce its E3 ubiquitin ligase activity, preventing damaged mitochondria from being tagged for autophagy. This mitochondrial dysfunction, along with increased oxidative stress and reduced ATP production, leads to neurodegeneration in the substantia nigra, the characteristic pathology of Parkinson's disease.
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Eukaryotic cells have their genetic material in the nucleus, in the other side, prokaryotes have it dispersed in the cytoplasm.
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Field Lab Assignment
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While a cancer genome profile provides information, it does not tell the full story on its own. A patient's genetic background, which varies between individuals due to inherited and environmental factors, also influences cancer risk and treatment outcomes. This background includes single nucleotide variations across the genome as well as variations in genes related to drug metabolism and cancer susceptibility. Additional epigenetic and non-coding factors can also indirectly affect gene expression and cancer predisposition within a person. Understanding all of these intrinsic patient-specific influences is important for a complete diagnosis and personalized cancer care.
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When a traditional gene is inserted into a mutant nucleus, it presumably will integrate into a chromosomal site different from the defective allele; although this might repair the mutation, a replacement mutation may result if the traditional gene integrates into another functional gene.
Human gene therapy has been attempted only on somatic (body) cells for diseases like cancer and severe combined immunodeficiency syndrome (SCIDS).
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The slide is about what is gene therapy and what are it's type.
Role of gene therapy in conservation and treatment of various diseases.
MSc dissertation
This document summarizes a project investigating whether mitochondrial DNA-encoded oxidative phosphorylation (OXPHOS) transcripts are dysregulated in the blood of patients with mild cognitive impairment (MCI) and Alzheimer's disease (AD) compared to controls. The student researcher designed primers, conducted quantitative real-time PCR on blood samples from controls and patients, and found several mtDNA-encoded OXPHOS transcripts were significantly more abundant in MCI and AD patients. This suggests peripheral changes in mitochondrial gene expression occur early in AD and could provide biomarkers for early diagnosis and monitoring disease progression and treatment responses.
FOLDING (Central dogma of genetics)
Eukaryotic cells have their genetic material in the nucleus, in the other side, prokaryotes have it dispersed in the cytoplasm.
From this DNA will be synthesized RNA, which will act as an intermediary, carrying genetic information from the nucleus to the ribosomes located in the cytoplasm to carry out protein synthesis.
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The study of the genetic code, allow s us identify mutations in specific genes, to detect diseases or predispositions to some pathologies such as those proposed by the articles, and with tan information, implement a PREVENTIVE MEDICINE.
Knowing the sequence of genes that cause certain genetic diseases, is essential for GENE THERAPY branch. In brief it consist in introduce a correct copy of the defective gene that was visualized into the cells, by some vectors, previously studied.
With the knowledge of genetic information, can be provided counseling before and after pregnancy to future parents (Give information about the diseases to which it is susceptible and existing treatments), having always instilled an ethical principle: THE HUMAN LIFE RESPECT.
Promote investigation in medicine basic areas, such as cell biology, molecular biology, biochemistry and pharmacology, with the aim of implement humanity solutions .
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1. Epigenetics refers to heritable changes in gene expression that do not involve changes to the underlying DNA sequence.
2. Important epigenetic mechanisms include DNA methylation, histone modification, and microRNA involvement. These mechanisms play roles in normal development and cell differentiation.
3. Epigenetic changes can be influenced by environmental factors and behaviors. They also contribute to genomic imprinting and X-chromosome inactivation.
4. Abnormal epigenetic patterns are implicated in cancer development. Targeting epigenetic alterations offers potential for new cancer interventions.
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This document summarizes two scientific articles. The first article discusses how long non-coding RNA (lncRNA) molecules like Xist help regulate gene expression by organizing chromatin structure and packaging genetic information. The second article finds that non-CpG methylation, rather than CpG methylation, dominates DNA methylation patterns in mature human neurons and is important for brain development and function. Abnormal epigenetic changes may also contribute to psychiatric disorders.
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Geneticists from the USA and Japan used iPSC to replace ring chromosomes, which cause short stature and mental retardation, with normal chromosomes in cell cultures from 5 patients. The therapy was successful in replacing ring chromosomes from chromosomes 13 and 18, but not other defects. Additionally, a study found variations in non-coding DNA, not just known risks like age and weight, increase risk of type 2 diabetes. Over 300 million people worldwide have diabetes, so further study of non-coding DNA could help understand disease development and identify new treatment approaches. Both studies provide potential ways to address genetic defects and help patients through stem cell therapy or risk assessment.
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1) The study analyzed DNA methylation patterns between young (<45 years old) and older (>=45 years old) women with breast cancer using data from The Cancer Genome Atlas.
2) Machine learning identified 17 differentially methylated sites between the two groups, including hypomethylation of the ITPR3 promoter and hypermethylation of the ARID3A gene in young women.
3) Differential methylation of these genes, particularly ITPR3 which stimulates breast cancer cell proliferation, may help explain the increased aggressiveness of breast cancer in young women. Further investigation of these genes is warranted.
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Pamphlet with the presentation of two news on Genetic Transcription:
- How 1,000 new genetic variants were discovered in blood groups
- New mechanisms of gene inactivation may prevent aging and cancer
Sci-Disc-Web-2014
The document discusses recent scientific discoveries from the UCSD Department of Pediatrics and Rady Children's Hospital. It includes summaries of research on:
1) Soluble Thy-1 promoting resolution of pulmonary fibrosis by reversing the profibrotic differentiation of fibroblasts in injured lungs.
2) Genomic studies of human populations at high altitude in Ethiopia and the Andes identifying genes that modulate adaptation to low oxygen environments.
3) Epigenetic modifications changing the expression of relevant genes in pulmonary fibrosis through alterations in DNA methylation.
Hinton et al 2012 Adv Genetics
MicroRNAs play an important role in regulating the differentiation of pluripotent stem cells into specialized cell types like pancreatic beta cells. Some miRNAs, like those in the miR-302/367 cluster, help maintain pluripotency in embryonic stem cells by promoting proliferation and silencing genes involved in differentiation. As cells begin to differentiate, expression of these pluripotency miRNAs decreases while other miRNAs increase to drive cell fate decisions and lineage commitment toward endoderm, pancreatic precursors, and mature beta cells. A better understanding of how miRNAs regulate each step of differentiation could help improve methods for generating insulin-producing beta cells from stem cells to treat diabetes.
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This study identified a mosaic activating mutation in the AKT1 gene associated with Proteus syndrome. Researchers sequenced DNA from tissue samples of 29 patients with Proteus syndrome and identified a recurrent somatic mutation, c.49G>A, in the AKT1 gene in 26 patients. This mutation leads to increased phosphorylation and activation of the AKT1 protein. Western blot analysis showed increased phosphorylation of AKT1 in tissues affected by Proteus syndrome. The findings link activation of the AKT1 signaling pathway through somatic mutations to overgrowth observed in Proteus syndrome patients.
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Epigenetic
This document discusses epigenetics and provides an overview of key concepts. It begins with a brief history of epigenetics research from the 1940s to present day. It then defines epigenetics as the study of heritable alterations in gene expression that do not involve changes to DNA sequence. Several epigenetic mechanisms are identified, including DNA methylation, histone modification, and non-coding RNA. The document notes that epigenetic changes are involved in various diseases and disorders. It also discusses how environmental, behavioral, dietary, and psychological factors can influence epigenetics.
Plegable molecular
The document discusses the importance of DNA studies for improving quality of life and advancing medicine. DNA plays a key role in transporting drugs across cell membranes and can be used in gene therapy by altering intracellular functions with packaged DNA delivered into cells. Studies of DNA cages and sequences help develop new drug delivery methods and genetic experiments for implanting new gene therapies to potentially treat diseases and prevent malformations by correcting transcriptional errors in the genome.
Plegable molecular
The document discusses the importance of DNA studies for improving quality of life and advancing medicine. DNA plays a key role in transporting drugs across cell membranes and can be used in gene therapy by altering intracellular functions with packaged DNA delivered into cells. Studies of DNA cages and sequences help develop new drug delivery methods and genetic experiments for implanting new gene therapies to potentially treat diseases and prevent malformations by correcting transcriptional errors in the genome.
Plegable molecular
The document discusses the importance of DNA studies for improving quality of life and advancing medicine. DNA plays a key role in transporting drugs across cell membranes and can be used in gene therapy by altering intracellular functions with packaged DNA delivered into cells. Studies of DNA cages and sequences help develop new drug delivery methods and genetic experiments for implanting new gene therapies to potentially treat diseases and prevent malformations by correcting transcriptional errors in the genome.
Epigenetics
The document discusses epigenetics and its role in environmental diseases. It defines epigenetics as mechanisms that regulate gene expression without changing DNA sequence. Environmental factors can cause epigenetic changes through pathways like DNA methylation and histone modification. Abnormal epigenetic changes have been implicated in diseases like cancer, aging, and neurodevelopmental disorders. Certain environmental exposures are also linked to epigenetic alterations, though causal relationships are difficult to establish.
Plegable pp1
Eukaryotic DNA is organized differently than prokaryotes, containing multiple chromosomes made of linear DNA molecules packaged around histone proteins to form chromatin. The cell cycle regulates cell division, ensuring daughter cells receive a full copy of the genome through DNA replication and cell growth or repair. Researchers found inhibiting signaling pathways in brain cancer cells stopped their reproduction and migration, making them more sensitive to chemotherapy. Studying chromatin remodeling genes in pancreatic cancer showed restoring expression of missing genes slowed cancer cell growth and induced senescence.
Plegable pp1
Eukaryotic DNA is organized differently than prokaryotes, containing multiple chromosomes made of linear DNA molecules packaged around histone proteins to form chromatin. The cell cycle regulates cell division, ensuring daughter cells receive a full copy of the genome through DNA replication and cell growth or repair. Researchers found inhibiting signaling pathways in brain cancer cells stopped their reproduction and migration, making them more sensitive to chemotherapy. Studying chromatin remodeling genes in pancreatic cancer showed restoring expression of missing genes slowed cancer cell growth and induced senescence.
Plegable pp1
Eukaryotic DNA is organized differently than prokaryotic DNA, containing multiple chromosomes made of linear DNA molecules packaged around histone proteins to form chromatin. The cell cycle regulates cell division, ensuring daughter cells receive a complete copy of the genome through DNA replication and cell growth or repair. Researchers found inhibiting signaling pathways in brain cancer cells stopped their reproduction and migration, making them more sensitive to chemotherapy. Studying chromatin remodeling genes in pancreatic cancer showed restoring expression of missing genes slowed cancer cell growth and induced senescence.
DNA REPARATION ELISA OROZCO
This document summarizes research on mechanisms for repairing damaged DNA, including non-homologous end joining and homologous recombination. It discusses how enzymes act to replace lost DNA information before joining, and how further research on these enzymes may help prevent diseases like cancer via gene therapy. The document also discusses how the p53 tumor suppressor protein prevents genome mutation, and research showing statins may help prevent damage caused by mutated p53 and prevent its destruction by enzymes. Statins are said to have potential benefits for treating cancer by preventing chemotherapy resistance and metastasis. Overall, further research on DNA repair mechanisms and related proteins is said to lead to improved control of diseases through prevention, detection and treatment approaches.
Dna is not destiny
This document summarizes key findings in the new field of epigenetics. It discusses how environmental factors like diet and stress can induce epigenetic changes that alter gene expression without changing DNA. Specifically, it describes an experiment where changing mother mice's diet resulted in offspring with different physical traits and disease risks. The document also discusses how epigenetic changes can be passed down generations, how the human epigenome is as important as DNA, links between epigenetics and diseases like cancer, and how nurturing behaviors in rats can induce epigenetic changes in offspring's brains that affect stress responses.
iDDNA®_HealthcareProfessional_Brochure
This document discusses using a person's DNA to provide personalized anti-aging treatments. It describes iDDNA, a company that analyzes a patient's genetic code to develop individualized anti-aging programs targeting the causes of aging at a genetic level. The document outlines several Nobel Prize-winning discoveries in genetics that form the foundation of iDDNA's approach. It also discusses how environmental factors and DNA damage contribute to the aging process and how iDDNA aims to slow aging by mitigating molecular damage and supporting DNA repair mechanisms.
Plegable biología molecular
Two studies investigated the "control code" of DNA replication and RNA transcription to better understand diseases like cancer and autism. One study found that RNA transcription is regulated by proteins similar to how DNA replication is regulated. The other study discovered that inositol phosphates regulate genome expression by controlling enzymes that switch genes on and off. Understanding how proteins control replication and transcription could help develop new treatments for diseases caused by defects in the genetic control code.
POSTGENETICS MEDICINE
PharmaCon2007 Congress, Dubrovnik, Croatia "New Technologies and Trends in Pharmacy, Pharmaceutical Industry and Education" http://www.pharmacon2007.com
Abstract is available at http://www.pharmaconnectme.com
Plegable biología molecular
Two scientific studies focused on understanding the "control code" of DNA replication and RNA transcription in order to learn more about human diseases like cancer and autism. The studies revealed that RNA transcription, like DNA replication, is regulated by proteins. One study identified the RBFOX1 protein, which ensures activity of important brain genes, is turned off in autism patients. The other study found that inositol phosphates regulate histone deacetylases, enzymes that control DNA replication by packaging DNA tightly and switching genes off. Understanding these protein interactions that control genetic expression could enable new treatments for misunderstood diseases.
Dna repair mechanism
DNA repair mechanisms based on new technologies and findings, to combat diseases caused by DNA damage
Folding plegable
1. The p53 protein, known as the "guardian of the genome", plays an important role in protecting against cancer by preventing DNA mutations. Scientists have discovered that p53 is activated during meiosis to closely monitor DNA breaks and repairs, preventing mutations from being passed onto gametes.
2. Researchers discovered that the Mec1 protein in yeast acts as the "guardian of the genome" by repairing damaged DNA and replication machinery. Mec1 phosphorylates the SLX4 protein, triggering it to anchor to the replication machinery and perform repairs.
3. Understanding how proteins repair DNA damage provides insights that could lead to new approaches for curing diseases caused by genetic mutations, such as cancer.
Folding plegable
1. The p53 protein, known as the "guardian of the genome", plays an important role in protecting against cancer by controlling the creation of eggs and sperm and preventing the accumulation of DNA mutations.
2. A protein called Mec1 in yeast plays a similar role as the "guardian of the genome" by helping to repair damaged DNA and prevent mutations during DNA replication.
3. Understanding how these proteins repair DNA damage and prevent mutations could provide new approaches for studying and curing diseases caused by genetic mutations like cancer.
Plegable biología molecular
The document discusses two recent studies that focused on the "control code" of DNA replication and RNA transcription in order to better understand causes of diseases like cancer and autism. The studies revealed new insights into how small signaling molecules regulate genome expression by controlling protein complexes that switch genes on and off. Understanding the interactions between proteins that control replication and transcription could allow developing new treatments for many misunderstood diseases.
Introduction to genes and gene theraph ysss
This document defines key genetic concepts and provides an overview of gene therapy. It explains that genes contain DNA instructions for making proteins, and that alleles are variants of the same gene that contribute to physical differences between individuals. Mutations can cause genetic disorders if they alter protein production. Gene therapy aims to treat disease by inserting healthy genes into patients' cells instead of using drugs or surgery, such as replacing mutated genes, inactivating abnormal genes, or introducing new genes to fight illness. The goal is for students to understand genes, alleles, mutations, and gene therapy.
Upb molecular journal
1. The document discusses recent discoveries about genetic variations between human genomes and structural variants that can disrupt genes.
2. It describes how identifying these exact genetic sequences of variations can help researchers narrow their searches for disease-causing mutations and develop new treatment possibilities.
3. The continued investigation of protein coding in genes is important for developing new and effective medications, as well as methods for disease prevention and health promotion.
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Presentación del plegable
- 1. RESEARCHERS IDENTIFY SEVENTH AND EIGHTH BASES OF DNA AND GENE REQUIRED TO MAINTAIN MALE SEX THROUGHOUT LIFE DISCOVERED: LOSS OF GENE DMRT1 LEADS TO MALE CELLS BECOMING FEMALE. Daniela VásquezGonzález Medicine student UPB 2011
- 4. INTRODUCCIÓN DNA and genes are the bases of numerous studies in humans with which they have identified a large number of pathologies and successful treatments to help decrease morbidity and mortality of people thus increasing the expectation of life of the population .
- 5. RESEARCHERS IDENTIFY SEVENTH AND EIGHTH BASES OF DNA.
- 7. RESEARCHERS IDENTIFY SEVENTH AND EIGHTH BASES OF DNA. Tet protein is important in DNA demethylation, made relevant to reactivate tumor suppressor genes are silenced in DNA methylation caused by oncological processes.
- 8. OBSERVATION With the results of this research could initiate a cancer treatment making the tet protein acts on DNA methylated and demethyl oncogenes to eliminate cancer and could disappear from the body using also the activation of stem cells important for the reestablishment function body, this treatment would be a revolution to find the cure for cancer.
- 9. GENE REQUIRED TO MAINTAIN MALE SEX THROUGHOUT LIFE DISCOVERED: LOSS OF GENE DMRT1 LEADS TO MALE CELLS BECOMING FEMALE.
- 10. GENE REQUIRED TO MAINTAIN MALE SEX THROUGHOUT LIFE DISCOVERED: LOSS OF GENE DMRT1 LEADS TO MALE CELLS BECOMING FEMALE. A gene is a unit of heredity, a sequence of nucleic acids.Genes are important because they contain information to build and maintain an organism from genetic traits to their offspring can identify phenotypic changes that are the expression of genotypic alterations.
- 11. GENE REQUIRED TO MAINTAIN MALE SEX THROUGHOUT LIFE DISCOVERED: LOSS OF GENE DMRT1 LEADS TO MALE CELLS BECOMING FEMALE. The absence of abnormalities in the genes cause phenotypic alterations resulting features genome, whole and healthy genes to ensure proper operation and balance vital for life.
- 12. GENE REQUIRED TO MAINTAIN MALE SEX THROUGHOUT LIFE DISCOVERED: LOSS OF GENE DMRT1 LEADS TO MALE CELLS BECOMING FEMALE. the absence of the Dmrt1 gene in humans causes testicular cells change their conformation and activate FOXL2 is of female origin and to start producing estrogen and theca cells resulting in the apparent feminization of the individual.
- 13. OBSERVATION The study of the consequences of the disappearance of both genes is important to try to understand that sexual diversity is present homosexuality as defining it as something genetic rather than psychological It can also cause testicular cancers.
- 14. MEDICAL UTILITY Application of new and better treatments for various diseases caused by damage to the structure of DNA using effective techniques such as use of modified proteins that fulfill protective functions in the body.
- 15. MEDICAL UTILITY Removal and treatment of diseases such as cancer using modified proteins as tet protein that allows DNA demethylation and reactivation of protective genes in the presence of cancer cells, allowing the total recovery of the various functions of body systems and longer survival. CANCER
- 16. MEDICAL UTILITY Stem cells are important clinically because they have the ability to self-renew by mitotic divisions making renewed or repaired damaged tissues of different organs.the most widely used stem cells and embryonic stem cells are effective because they have better ability to differentiate, giving rise to ectoderm, mesoderm, endoderm, taking more advanced in terms of rehabilitation of the state of individual organs and tissues.
- 17. MEDICAL UTILITY The absence of certain genes can see the different phenotypic changes that occur in addition to being clear about sexual disorders that are related to the maintenance of sexual characters of both genders and are regulated by genes, that may not be present can cause from serious diseases like cancer, to changes in the sexual orientation of the individual.
- 18. REFERENCE David Zarkower y Vivian Bardwell. department of genetics, cell biology and development.Gene required to maintain male sex throughout life discovered: Loss of gene Dmrt1 leads to male cells becoming female. University of Minnesota (2011, July 20). ScienceDaily. from ttp://www.sciencedaily.com/releases/2011/07/110720142520.htm Study co-authors from UNC include Shinsuke Ito, Ph.D.; Li Shen, Ph.D.; Susan C. Wu, Ph.D.; Leonard B. Collins and James A. Swenberg, Ph.D. Researchers identify seventh and eighth bases of DNA.ScienceDaily (July 21, 2011). http://www.sciencedaily.com/releases/2011/07/110721142408.htm
- 19. THANK YOU!!!