Promoter Regions, Genetic
DNA Modification Methylases
Long Interspersed Nucleotide Elements
RNA, Long Noncoding
Sequence Analysis, DNA
Gene Expression Regulation, Neoplastic
Molecular Sequence Data
Polymerase Chain Reaction
Gene Expression Regulation
Oligonucleotide Array Sequence Analysis
Gene Expression Profiling
Genes, Tumor Suppressor
Site-Specific DNA-Methyltransferase (Adenine-Specific)
Reverse Transcriptase Polymerase Chain Reaction
Tumor Suppressor Proteins
Death-Associated Protein Kinases
Insulin-Like Growth Factor II
Embryonic Stem Cells
snRNP Core Proteins
Chromatin Assembly and Disassembly
Cyclin-Dependent Kinase Inhibitor p16
Gene Expression Regulation, Developmental
Transcription Initiation Site
Methyl-CpG-Binding Protein 2
Gene Expression Regulation, Plant
Tumor Markers, Biological
Cyclin-Dependent Kinase Inhibitor p15
Glutathione S-Transferase pi
Chromosomes, Human, X
Repetitive Sequences, Nucleic Acid
Jumonji Domain-Containing Histone Demethylases
Histone Deacetylase Inhibitors
RNA, Small Interfering
Core Binding Factor Alpha 3 Subunit
Polycomb Repressive Complex 2
Methylenetetrahydrofolate Reductase (NADPH2)
Genome-Wide Association Study
Folic Acid Deficiency
Chromosomal Proteins, Non-Histone
High-Throughput Nucleotide Sequencing
Cell Transformation, Neoplastic
Short Interspersed Nucleotide Elements
X Chromosome Inactivation
DNA Repair Enzymes
Tumor Cells, Cultured
DNA Restriction Enzymes
DNA Transposable Elements
Dosage Compensation, Genetic
Protein Processing, Post-Translational
Deoxyribonucleases, Type II Site-Specific
Genes, Intracisternal A-Particle
Real-Time Polymerase Chain Reaction
Plants, Genetically Modified
Amino Acid Sequence
Reproducibility of Results
Adaptor Proteins, Signal Transducing
Gene Expression Regulation, Enzymologic
Vitamin B 12
Nuclear Transfer Techniques
Protein Structure, Tertiary
Regulatory Sequences, Nucleic Acid
Tandem Repeat Sequences
Detailed methylation analysis of the glutathione S-transferase pi (GSTP1) gene in prostate cancer. (1/12450)Glutathione-S-Transferases (GSTs) comprise a family of isoenzymes that provide protection to mammalian cells against electrophilic metabolites of carcinogens and reactive oxygen species. Previous studies have shown that the CpG-rich promoter region of the pi-class gene GSTP1 is methylated at single restriction sites in the majority of prostate cancers. In order to understand the nature of abnormal methylation of the GSTP1 gene in prostate cancer we undertook a detailed analysis of methylation at 131 CpG sites spanning the promoter and body of the gene. Our results show that DNA methylation is not confined to specific CpG sites in the promoter region of the GSTP1 gene but is extensive throughout the CpG island in prostate cancer cells. Furthermore we found that both alleles are abnormally methylated in this region. In normal prostate tissue, the entire CpG island was unmethylated, but extensive methylation was found outside the island in the body of the gene. Loss of GSTP1 expression correlated with DNA methylation of the CpG island in both prostate cancer cell lines and cancer tissues whereas methylation outside the CpG island in normal prostate tissue appeared to have no effect on gene expression. (+info)
Nonmethylated transposable elements and methylated genes in a chordate genome. (2/12450)The genome of the invertebrate chordate Ciona intestinalis was found to be a stable mosaic of methylated and nonmethylated domains. Multiple copies of an apparently active long terminal repeat retrotransposon and a long interspersed element are nonmethylated and a large fraction of abundant short interspersed elements are also methylation free. Genes, by contrast, are predominantly methylated. These data are incompatible with the genome defense model, which proposes that DNA methylation in animals is primarily targeted to endogenous transposable elements. Cytosine methylation in this urochordate may be preferentially directed to genes. (+info)
Differential regulation of the human nidogen gene promoter region by a novel cell-type-specific silencer element. (3/12450)Transfection analyses of the human nidogen promoter region in nidogen-producing fibroblasts from adult skin revealed multiple positive and negative cis-acting elements controlling nidogen gene expression. Characterization of the positive regulatory domains by gel mobility-shift assays and co-transfection studies in Drosophila SL2 cells unequivocally demonstrated that Sp1-like transcription factors are essential for a high expression of the human nidogen gene. Analysis of the negative regulatory domains identified a novel silencer element between nt -1333 and -1322, which is bound by a distinct nuclear factor, by using extracts from adult but not from embryonal fibroblasts. In embryonal fibroblasts, which express significantly higher amounts of nidogen mRNA as compared with adult fibroblasts, this inhibitory nidogen promoter region did not affect nidogen and SV40 promoter activities. The silencer element seems to be active only in nidogen-producing cells. Therefore this regulatory element might function in vivo to limit nidogen gene expression in response to external stimuli. However, none of the identified regulatory elements, including the silencer, contribute significantly to cell-specific expression of the human nidogen gene. Instead we provide evidence that gene expression in epidermal keratinocytes that are not producing nidogen is repressed by methylation-specific and chromatin-dependent mechanisms. (+info)
Inactivation of the DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation is a common event in primary human neoplasia. (4/12450)The DNA repair protein O6-methylguanine DNA methyltransferase (MGMT) removes alkyl adducts from the O6 position of guanine. MGMT expression is decreased in some tumor tissues, and lack of activity has been observed in some cell lines. Loss of expression is rarely due to deletion, mutation, or rearrangement of the MGMT gene, but methylation of discrete regions of the CpG island of MGMT has been associated with the silencing of the gene in cell lines. We used methylation-specific PCR to study the promoter methylation of the MGMT gene. All normal tissues and expressing cancer cell lines were unmethylated, whereas nonexpressing cancer cell lines were methylated. Among the more than 500 primary human tumors examined, MGMT hypermethylation was present in a subset of specific types of cancer. In gliomas and colorectal carcinomas, aberrant methylation was detected in 40% of the tumors, whereas in non-small cell lung carcinomas, lymphomas, and head and neck carcinomas, this alteration was found in 25% of the tumors. MGMT methylation was found rarely or not at all in other tumor types. We also analyzed MGMT expression by immunohistochemistry in relation to the methylation status in 31 primary tumors. The presence of aberrant hypermethylation was associated with loss of MGMT protein, in contrast to retention of protein in the majority of tumors without aberrant hypermethylation. Our results suggest that epigenetic inactivation of MGMT plays an important role in primary human neoplasia. (+info)
Methylation-associated silencing of the tissue inhibitor of metalloproteinase-3 gene suggest a suppressor role in kidney, brain, and other human cancers. (5/12450)Tissue inhibitor of metalloproteinase-3 (TIMP-3) antagonizes matrix metalloproteinase activity and can suppress tumor growth, angiogenesis, invasion, and metastasis. Loss of TIMP-3 has been related to the acquisition of tumorigenesis. Herein, we show that TIMP-3 is silenced in association with aberrant promoter-region methylation in cell lines derived from human cancers. TIMP-3 expression was restored after 5-aza-2'deoxycytidine-mediated demethylation of the TIMP-3 proximal promoter region. Genomic bisulfite sequencing revealed that TIMP-3 silencing was related to the overall density of methylation and that discrete regions within the TIMP-3 CpG island may be important for the silencing of this gene. Aberrant methylation of TIMP-3 occurred in primary cancers of the kidney, brain, colon, breast, and lung, but not in any of 41 normal tissue samples. The most frequent TIMP-3 methylation was found in renal cancers, which originate in the tissue that normally expresses the highest TIMP-3 levels. This methylation correlated with a lack of detectable TIMP-3 protein in these tumors. Together, these data show that methylation-associated inactivation of TIMP-3 is frequent in many human tumors. (+info)
Frequent silencing of the GPC3 gene in ovarian cancer cell lines. (6/12450)GPC3 encodes a glypican integral membrane protein and is mutated in the Simpson-Golabi-Behmel syndrome. Simpson-Golabi-Behmel syndrome, an X-linked condition, is characterized by pre- and postnatal overgrowth as well as by various other abnormalities, including increased risk of embryonal tumors. The GPC3 gene is located at Xq26, a region frequently deleted in advanced ovarian cancers. To determine whether GPC3 is a tumor suppressor in ovarian neoplasia, we studied its expression and mutational status in 13 ovarian cancer cell lines. No mutations were found in GPC3, but its expression was lost in four (31%) of the cell lines analyzed. In an of the cases where GPC3 expression was lost, the GPC3 promoter was hypermethylated, as demonstrated by Southern analysis. Expression of GPC3 was restored by treatment of the cells with the demethylating agent 5-aza-2'-deoxycytidine. A colony-forming assay confirmed that ectopic GPC3 expression inhibited the growth of ovarian cancer cell lines. Our results show that GPC3, a gene involved in the control of organ growth, is frequently inactivated in a subset of ovarian cancers and suggest that it may function as a tumor suppressor in the ovary. (+info)
Clonality of isolated eosinophils in the hypereosinophilic syndrome. (7/12450)The idiopathic hypereosinophilic syndrome (IHES) is a rare disorder characterized by unexplained, persistent eosinophilia associated with multiple organ dysfunction due to eosinophilic tissue infiltration. In the absence of karyotypic abnormalities, there is no specific test to detect clonal eosinophilia in IHES. Analysis of X-chromosome inactivation patterns can be used to determine whether proliferative disorders are clonal in origin. Methylation of HpaII and Hha I sites near the polymorphic trinucleotide repeat of the human androgen receptor gene (HUMARA) has been shown to correlate with X-inactivation. In this study, we have used the polymerase chain reaction (PCR) with nested primers to analyze X-inactivation patterns of the HUMARA loci in purified eosinophils from female patients with eosinophilia. Peripheral blood eosinophils were isolated by their autofluoresence using flow cytometric sorting. Eosinophils purified from a female patient presenting with IHES were found to show a clonal pattern of X-inactivation. Eosinophil-depleted leukocytes from this patient were polyclonal by HUMARA analysis, thus excluding skewedness of random X-inactivation. After corticosteroid suppression of her blood eosinophilia, a clonal population of eosinophils could no longer be detected in purified eosinophils. In contrast, eosinophils purified from a patient with Churg-Strauss syndrome and from six patients with reactive eosinophilias attributed to allergy, parasitic infection, or drug reaction showed a polyclonal pattern of X-inactivation by HUMARA analysis. The finding of clonal eosinophilia in a patient presenting with IHES indicates that such patients may have, in reality, a low-grade clonal disorder that can be distinguished from reactive eosinophilias by HUMARA analysis. Further, the method described can be used to monitor disease progression. (+info)
Re-expression of endogenous p16ink4a in oral squamous cell carcinoma lines by 5-aza-2'-deoxycytidine treatment induces a senescence-like state. (8/12450)We have previously reported that a set of oral squamous cell carcinoma lines express specifically elevated cdk6 activity. One of the cell lines, SCC4, contains a cdk6 amplification and expresses functional p16ink4a, the other cell lines express undetectable levels of p16ink4a, despite a lack of coding-region mutations. Two of the cell lines, SCC15 and SCC40 have a hypermethylated p16ink4A promoter and a third cell line, SCC9, has a mutation in the p16ink4a promoter. Using the demethylation agent 5-aza-2'-deoxycytidine, we showed that the p16ink4a protein was re-expressed after a 5-day treatment with this chemical. One cell line, SCC15 expressed high levels of p16ink4a. In this line, cdk6 activity was decreased after 5-aza-2'deoxycytidine treatment, and the hypophosphorylated, growth suppressive form of the retinoblastoma tumor suppressor protein pRB was detected. Expression of p16ink4a persisted, even after the drug was removed and the cells expressed senescence-associated beta-galactosidase activity. Ectopic expression of p16ink4a with a recombinant retrovirus in this cell line also induced a similar senescence-like phenotype. Hence, it was possible to restore a functional pRB pathway in an oral squamous cell carcinoma line by inducing re-expression of endogenous p16ink4a in response to treatment with a demethylating agent. (+info)
Neoplasm refers to an abnormal growth of cells that can be benign (non-cancerous) or malignant (cancerous). Neoplasms can occur in any part of the body and can affect various organs and tissues. The term "neoplasm" is often used interchangeably with "tumor," but while all tumors are neoplasms, not all neoplasms are tumors.
Types of Neoplasms
There are many different types of neoplasms, including:
1. Carcinomas: These are malignant tumors that arise in the epithelial cells lining organs and glands. Examples include breast cancer, lung cancer, and colon cancer.
2. Sarcomas: These are malignant tumors that arise in connective tissue, such as bone, cartilage, and fat. Examples include osteosarcoma (bone cancer) and soft tissue sarcoma.
3. Lymphomas: These are cancers of the immune system, specifically affecting the lymph nodes and other lymphoid tissues. Examples include Hodgkin lymphoma and non-Hodgkin lymphoma.
4. Leukemias: These are cancers of the blood and bone marrow that affect the white blood cells. Examples include acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
5. Melanomas: These are malignant tumors that arise in the pigment-producing cells called melanocytes. Examples include skin melanoma and eye melanoma.
Causes and Risk Factors of Neoplasms
The exact causes of neoplasms are not fully understood, but there are several known risk factors that can increase the likelihood of developing a neoplasm. These include:
1. Genetic predisposition: Some people may be born with genetic mutations that increase their risk of developing certain types of neoplasms.
2. Environmental factors: Exposure to certain environmental toxins, such as radiation and certain chemicals, can increase the risk of developing a neoplasm.
3. Infection: Some neoplasms are caused by viruses or bacteria. For example, human papillomavirus (HPV) is a common cause of cervical cancer.
4. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and a poor diet can increase the risk of developing certain types of neoplasms.
5. Family history: A person's risk of developing a neoplasm may be higher if they have a family history of the condition.
Signs and Symptoms of Neoplasms
The signs and symptoms of neoplasms can vary depending on the type of cancer and where it is located in the body. Some common signs and symptoms include:
1. Unusual lumps or swelling
4. Weight loss
5. Change in bowel or bladder habits
6. Unexplained bleeding
7. Coughing up blood
8. Hoarseness or a persistent cough
9. Changes in appetite or digestion
10. Skin changes, such as a new mole or a change in the size or color of an existing mole.
Diagnosis and Treatment of Neoplasms
The diagnosis of a neoplasm usually involves a combination of physical examination, imaging tests (such as X-rays, CT scans, or MRI scans), and biopsy. A biopsy involves removing a small sample of tissue from the suspected tumor and examining it under a microscope for cancer cells.
The treatment of neoplasms depends on the type, size, location, and stage of the cancer, as well as the patient's overall health. Some common treatments include:
1. Surgery: Removing the tumor and surrounding tissue can be an effective way to treat many types of cancer.
2. Chemotherapy: Using drugs to kill cancer cells can be effective for some types of cancer, especially if the cancer has spread to other parts of the body.
3. Radiation therapy: Using high-energy radiation to kill cancer cells can be effective for some types of cancer, especially if the cancer is located in a specific area of the body.
4. Immunotherapy: Boosting the body's immune system to fight cancer can be an effective treatment for some types of cancer.
5. Targeted therapy: Using drugs or other substances to target specific molecules on cancer cells can be an effective treatment for some types of cancer.
Prevention of Neoplasms
While it is not always possible to prevent neoplasms, there are several steps that can reduce the risk of developing cancer. These include:
1. Avoiding exposure to known carcinogens (such as tobacco smoke and radiation)
2. Maintaining a healthy diet and lifestyle
3. Getting regular exercise
4. Not smoking or using tobacco products
5. Limiting alcohol consumption
6. Getting vaccinated against certain viruses that are associated with cancer (such as human papillomavirus, or HPV)
7. Participating in screening programs for early detection of cancer (such as mammograms for breast cancer and colonoscopies for colon cancer)
8. Avoiding excessive exposure to sunlight and using protective measures such as sunscreen and hats to prevent skin cancer.
It's important to note that not all cancers can be prevented, and some may be caused by factors that are not yet understood or cannot be controlled. However, by taking these steps, individuals can reduce their risk of developing cancer and improve their overall health and well-being.
The causes of colorectal neoplasms are not fully understood, but factors such as age, genetics, diet, and lifestyle have been implicated. Symptoms of colorectal cancer can include changes in bowel habits, blood in the stool, abdominal pain, and weight loss. Screening for colorectal cancer is recommended for adults over the age of 50, as it can help detect early-stage tumors and improve survival rates.
There are several subtypes of colorectal neoplasms, including adenomas (which are precancerous polyps), carcinomas (which are malignant tumors), and lymphomas (which are cancers of the immune system). Treatment options for colorectal cancer depend on the stage and location of the tumor, but may include surgery, chemotherapy, radiation therapy, or a combination of these.
Research into the causes and treatment of colorectal neoplasms is ongoing, and there has been significant progress in recent years. Advances in screening and treatment have improved survival rates for patients with colorectal cancer, and there is hope that continued research will lead to even more effective treatments in the future.
1. Anemia: Folic acid plays a critical role in the production of red blood cells, so a deficiency can lead to anemia, which can cause fatigue, weakness, and shortness of breath.
2. Birth defects: Folic acid is crucial for fetal development during pregnancy, and a deficiency can increase the risk of birth defects such as spina bifida and cleft palate.
3. Heart disease: Folic acid helps to regulate homocysteine levels in the blood, which are associated with an increased risk of heart disease and stroke.
4. Neurological problems: Folic acid is important for the health of the nervous system, and a deficiency can lead to neurological problems such as cognitive impairment, mood disturbances, and seizures.
5. Poor wound healing: Folic acid is necessary for the production of collagen, which is important for wound healing. A deficiency can lead to slow or poor wound healing.
6. Increased risk of cancer: Some studies suggest that a folic acid deficiency may increase the risk of certain types of cancer, such as colon cancer.
7. Hair loss: Folic acid is important for hair growth, and a deficiency can lead to hair loss.
8. Skin problems: Folic acid is important for skin health, and a deficiency can lead to skin problems such as dry, flaky skin and mouth sores.
9. Mood changes: Folic acid plays a role in the production of neurotransmitters, which are chemicals that regulate mood. A deficiency can lead to mood changes such as depression and anxiety.
10. Fatigue: Folic acid is important for energy metabolism, and a deficiency can lead to fatigue and weakness.
Folic acid deficiency can be caused by a number of factors, including:
1. Poor diet: A diet that is low in folate-rich foods can lead to a deficiency.
2. Malabsorption: Certain medical conditions such as celiac disease and Crohn's disease can lead to malabsorption of folic acid.
3. Pregnancy and lactation: Women who are pregnant or breastfeeding have a higher need for folic acid, and may be at risk for deficiency if they do not consume enough.
4. Alcoholism: Heavy alcohol consumption can interfere with the absorption of folic acid.
5. Certain medications: Some medications, such as antacids and proton pump inhibitors, can interfere with the absorption of folic acid.
To diagnose a folic acid deficiency, a healthcare provider may perform a physical exam, take a medical history, and order blood tests to measure folic acid levels. Treatment for a folic acid deficiency typically involves dietary changes and supplements. Dietary changes may include consuming more folate-rich foods, such as leafy green vegetables, legumes, and whole grains. Supplements may include folic acid tablets or liquid supplements. In severe cases of deficiency, injections of folic acid may be necessary. It is important to seek medical attention if you suspect a folic acid deficiency, as untreated deficiencies can lead to serious health problems.
Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.
Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.
In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.
It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.
See also: Cancer, Tumor
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There are different types of Breast Neoplasms such as:
1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.
2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.
3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.
4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.
5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.
Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.
Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.
It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.
PWS is characterized by a range of physical, cognitive, and behavioral symptoms, including:
1. Delayed growth and development: Individuals with PWS often have slowed growth before birth and may be born with low birth weight. They may also experience delayed puberty and short stature compared to their peers.
2. Intellectual disability: Many individuals with PWS have intellectual disability, which can range from mild to severe.
3. Behavioral problems: PWS is often associated with behavioral challenges, such as attention deficit hyperactivity disorder (ADHD), anxiety, and obsessive-compulsive disorder (OCD).
4. Feeding and eating difficulties: Individuals with PWS may have difficulty feeding and swallowing, which can lead to nutritional deficiencies and other health problems. They may also experience a condition called "hyperphagia," which is characterized by excessive hunger and overeating.
5. Sleep disturbances: PWS is often associated with sleep disturbances, such as insomnia and restlessness.
6. Short stature: Individuals with PWS tend to be shorter than their peers, with an average adult height of around 4 feet 10 inches (147 cm).
7. Body composition: PWS is often characterized by a high percentage of body fat, which can increase the risk of obesity and other health problems.
8. Hormonal imbalances: PWS can disrupt the balance of hormones in the body, leading to issues such as hypogonadism (low testosterone levels) and hypothyroidism (underactive thyroid).
9. Dental problems: Individuals with PWS are at increased risk of dental problems, including tooth decay and gum disease.
10. Vision and hearing problems: Some individuals with PWS may experience vision and hearing problems, such as nearsightedness, farsightedness, and hearing loss.
It's important to note that every individual with PWS is unique, and not all will experience all of these symptoms. Additionally, the severity of the disorder can vary widely from person to person. With proper medical care and management, however, many individuals with PWS can lead fulfilling and productive lives.
There are several types of lung neoplasms, including:
1. Adenocarcinoma: This is the most common type of lung cancer, accounting for approximately 40% of all lung cancers. It is a malignant tumor that originates in the glands of the respiratory tract and can be found in any part of the lung.
2. Squamous cell carcinoma: This type of lung cancer accounts for approximately 25% of all lung cancers and is more common in men than women. It is a malignant tumor that originates in the squamous cells lining the airways of the lungs.
3. Small cell lung cancer (SCLC): This is a highly aggressive form of lung cancer that accounts for approximately 15% of all lung cancers. It is often found in the central parts of the lungs and can spread quickly to other parts of the body.
4. Large cell carcinoma: This is a rare type of lung cancer that accounts for only about 5% of all lung cancers. It is a malignant tumor that originates in the large cells of the respiratory tract and can be found in any part of the lung.
5. Bronchioalveolar carcinoma (BAC): This is a rare type of lung cancer that originates in the cells lining the airways and alveoli of the lungs. It is more common in women than men and tends to affect older individuals.
6. Lymphangioleiomyomatosis (LAM): This is a rare, progressive, and often fatal lung disease that primarily affects women of childbearing age. It is characterized by the growth of smooth muscle-like cells in the lungs and can lead to cysts, lung collapse, and respiratory failure.
7. Hamartoma: This is a benign tumor that originates in the tissue of the lungs and is usually found in children. It is characterized by an overgrowth of normal lung tissue and can be treated with surgery.
8. Secondary lung cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
9. Metastatic cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
10. Mesothelioma: This is a rare and aggressive form of cancer that originates in the lining of the lungs or abdomen. It is caused by asbestos exposure and can be treated with surgery, chemotherapy, and radiation therapy.
Lung diseases can also be classified based on their cause, such as:
1. Infectious diseases: These are caused by bacteria, viruses, or other microorganisms and can include pneumonia, tuberculosis, and bronchitis.
2. Autoimmune diseases: These are caused by an overactive immune system and can include conditions such as sarcoidosis and idiopathic pulmonary fibrosis.
3. Genetic diseases: These are caused by inherited mutations in genes that affect the lungs and can include cystic fibrosis and primary ciliary dyskinesia.
4. Environmental diseases: These are caused by exposure to harmful substances such as tobacco smoke, air pollution, and asbestos.
5. Radiological diseases: These are caused by exposure to ionizing radiation and can include conditions such as radiographic breast cancer and lung cancer.
6. Vascular diseases: These are caused by problems with the blood vessels in the lungs and can include conditions such as pulmonary embolism and pulmonary hypertension.
7. Tumors: These can be benign or malignant and can include conditions such as lung metastases and lung cancer.
8. Trauma: This can include injuries to the chest or lungs caused by accidents or other forms of trauma.
9. Congenital diseases: These are present at birth and can include conditions such as bronchopulmonary foregut malformations and congenital cystic adenomatoid malformation.
Each type of lung disease has its own set of symptoms, diagnosis, and treatment options. It is important to seek medical attention if you experience any persistent or severe respiratory symptoms, as early diagnosis and treatment can improve outcomes and quality of life.
The main symptoms of AS include:
1. Developmental delay: Children with AS typically experience delays in reaching milestones such as sitting, standing, and walking.
2. Intellectual disability: Individuals with AS often have low IQ scores and may have difficulty with language skills, memory, and problem-solving.
3. Happy demeanor: People with AS are known to have a happy, outgoing, and sociable personality.
4. Speech and language difficulties: Individuals with AS may have trouble articulating words and sentences.
5. Motor skills problems: They may experience difficulty with coordination, balance, and fine motor skills.
6. Seizures: About 10% of individuals with AS experience seizures, usually in the form of atonic seizures (also known as drop attacks).
7. Sleep disturbances: Many people with AS have sleep problems, including insomnia and restlessness.
8. Behavioral issues: Some individuals with AS may exhibit behavioral challenges such as hyperactivity, impulsivity, and anxiety.
9. Vision problems: Some people with AS may experience vision difficulties, including strabismus (crossed eyes) and nystagmus (involuntary eye movements).
10. Feeding difficulties: Some individuals with AS may have trouble feeding themselves or experiencing gastrointestinal issues.
There is no cure for Angelman Syndrome, but various therapies can help manage the symptoms and improve the quality of life for individuals affected by the disorder. These may include physical therapy, occupational therapy, speech therapy, and behavioral interventions. Medications such as anticonvulsants and mood stabilizers may also be prescribed to manage seizures and other symptoms.
The main features of BWS include:
1. Macroglossia (enlarged tongue): This is the most common feature of BWS, and it can cause difficulty with speaking and breathing.
2. Protruding ears: Children with BWS often have large ears that stick out from their head.
3. Omphalocele: This is a birth defect in which the intestines or other organs protrude through the navel.
4. Hydrocephalus: This is a build-up of fluid in the brain, which can cause increased pressure and enlargement of the head.
5. Polyhydramnios: This is a condition in which there is too much amniotic fluid surrounding the fetus during pregnancy.
6. Imperforate anus: This is a birth defect in which the anus is not properly formed, leading to difficulty with bowel movements.
7. Developmental delays: Children with BWS may experience delays in reaching developmental milestones, such as sitting, standing, and walking.
8. Intellectual disability: Some individuals with BWS may have mild to moderate intellectual disability.
9. Increased risk of cancer: Individuals with BWS have an increased risk of developing certain types of cancer, particularly Wilms tumor (a type of kidney cancer) and hepatoblastoma (a type of liver cancer).
There is no cure for Beckwith-Wiedemann Syndrome, but various treatments can be used to manage the associated symptoms and prevent complications. These may include surgery, physical therapy, speech therapy, and medication. With appropriate medical care and support, individuals with BWS can lead fulfilling lives.
There are several types of genomic instability, including:
1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.
Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.
Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.
In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.
There are several types of colonic neoplasms, including:
1. Adenomas: These are benign growths that are usually precursors to colorectal cancer.
2. Carcinomas: These are malignant tumors that arise from the epithelial lining of the colon.
3. Sarcomas: These are rare malignant tumors that arise from the connective tissue of the colon.
4. Lymphomas: These are cancers of the immune system that can affect the colon.
Colonic neoplasms can cause a variety of symptoms, including bleeding, abdominal pain, and changes in bowel habits. They are often diagnosed through a combination of medical imaging tests (such as colonoscopy or CT scan) and biopsy. Treatment for colonic neoplasms depends on the type and stage of the tumor, and may include surgery, chemotherapy, and/or radiation therapy.
Overall, colonic neoplasms are a common condition that can have serious consequences if left untreated. It is important for individuals to be aware of their risk factors and to undergo regular screening for colon cancer to help detect and treat any abnormal growths or tumors in the colon.
There are several types of stomach neoplasms, including:
1. Adenocarcinoma: This is the most common type of stomach cancer, accounting for approximately 90% of all cases. It begins in the glandular cells that line the stomach and can spread to other parts of the body.
2. Squamous cell carcinoma: This type of cancer begins in the squamous cells that cover the outer layer of the stomach. It is less common than adenocarcinoma but more likely to be found in the upper part of the stomach.
3. Gastric mixed adenocarcinomasquamous cell carcinoma: This type of cancer is a combination of adenocarcinoma and squamous cell carcinoma.
4. Lymphoma: This is a cancer of the immune system that can occur in the stomach. It is less common than other types of stomach cancer but can be more aggressive.
5. Carcinomas of the stomach: These are malignant tumors that arise from the epithelial cells lining the stomach. They can be subdivided into adenocarcinoma, squamous cell carcinoma, and others.
6. Gastric brunner's gland adenoma: This is a rare type of benign tumor that arises from the Brunner's glands in the stomach.
7. Gastric polyps: These are growths that occur on the lining of the stomach and can be either benign or malignant.
The symptoms of stomach neoplasms vary depending on the location, size, and type of tumor. Common symptoms include abdominal pain, nausea, vomiting, weight loss, and difficulty swallowing. Diagnosis is usually made through a combination of endoscopy, imaging studies (such as CT or PET scans), and biopsy. Treatment depends on the type and stage of the tumor and may include surgery, chemotherapy, radiation therapy, or a combination of these. The prognosis for stomach neoplasms varies depending on the type and stage of the tumor, but early detection and treatment can improve outcomes.
MSI is a common feature of many types of cancer, including colorectal cancer, gastrointestinal cancers, and endometrial cancer. It is estimated that up to 15% of all cancers exhibit MSI, with the highest prevalence found in colon cancer (40-50%).
MSI can be caused by a variety of genetic mutations, including defects in DNA repair genes such as MLH1 and MSH2, which are involved in the repair of microsatellites. Other causes of MSI include defects in the proofreading mechanism of DNA replication and the absence of the protein that corrects errors during DNA replication.
The significance of MSI in cancer is that it can be used as a biomarker for predicting the response of cancer cells to immunotherapy, such as checkpoint inhibitors. Cancer cells that exhibit MSI are more likely to respond to these therapies and have a better prognosis compared to those that do not exhibit MSI. Additionally, MSI can be used as a predictive biomarker for the presence of Lynch syndrome, an inherited condition that increases the risk of developing colorectal cancer and other cancers.
Overall, the study of microsatellite instability is an important area of cancer research, as it can provide valuable insights into the mechanisms of cancer development and progression, and may lead to the development of new diagnostic and therapeutic strategies for cancer treatment.
Adenocarcinoma is a term used to describe a variety of different types of cancer that arise in glandular tissue, including:
1. Colorectal adenocarcinoma (cancer of the colon or rectum)
2. Breast adenocarcinoma (cancer of the breast)
3. Prostate adenocarcinoma (cancer of the prostate gland)
4. Pancreatic adenocarcinoma (cancer of the pancreas)
5. Lung adenocarcinoma (cancer of the lung)
6. Thyroid adenocarcinoma (cancer of the thyroid gland)
7. Skin adenocarcinoma (cancer of the skin)
The symptoms of adenocarcinoma depend on the location of the cancer and can include:
1. Blood in the stool or urine
2. Abdominal pain or discomfort
3. Changes in bowel habits
4. Unusual vaginal bleeding (in the case of endometrial adenocarcinoma)
5. A lump or thickening in the breast or elsewhere
6. Weight loss
8. Coughing up blood (in the case of lung adenocarcinoma)
The diagnosis of adenocarcinoma is typically made through a combination of imaging tests, such as CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a sample of tissue from the affected area and examining it under a microscope for cancer cells.
Treatment options for adenocarcinoma depend on the location of the cancer and can include:
1. Surgery to remove the tumor
2. Chemotherapy, which involves using drugs to kill cancer cells
3. Radiation therapy, which involves using high-energy X-rays or other particles to kill cancer cells
4. Targeted therapy, which involves using drugs that target specific molecules on cancer cells to kill them
5. Immunotherapy, which involves using drugs that stimulate the immune system to fight cancer cells.
The prognosis for adenocarcinoma is generally good if the cancer is detected and treated early, but it can be more challenging to treat if the cancer has spread to other parts of the body.
Malignant prostatic neoplasms are cancerous tumors that can be aggressive and spread to other parts of the body (metastasize). The most common type of malignant prostatic neoplasm is adenocarcinoma of the prostate, which accounts for approximately 95% of all prostate cancers. Other types of malignant prostatic neoplasms include sarcomas and small cell carcinomas.
Prostatic neoplasms can be diagnosed through a variety of tests such as digital rectal examination (DRE), prostate-specific antigen (PSA) test, imaging studies (ultrasound, CT scan or MRI), and biopsy. Treatment options for prostatic neoplasms depend on the type, stage, and grade of the tumor, as well as the patient's age and overall health. Treatment options can include active surveillance, surgery (robotic-assisted laparoscopic prostatectomy or open prostatectomy), radiation therapy (external beam radiation therapy or brachytherapy), and hormone therapy.
In summary, Prostatic Neoplasms are tumors that occur in the prostate gland, which can be benign or malignant. The most common types of malignant prostatic neoplasms are adenocarcinoma of the prostate, and other types include sarcomas and small cell carcinomas. Diagnosis is done through a variety of tests, and treatment options depend on the type, stage, and grade of the tumor, as well as the patient's age and overall health.
Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.
The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.
Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.
Examples of diseases with a known genetic predisposition:
1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.
Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."
Benign ovarian neoplasms include:
1. Serous cystadenoma: A fluid-filled sac that develops on the surface of the ovary.
2. Mucinous cystadenoma: A tumor that is filled with mucin, a type of protein.
3. Endometrioid tumors: Tumors that are similar to endometrial tissue (the lining of the uterus).
4. Theca cell tumors: Tumors that develop in the supportive tissue of the ovary called theca cells.
Malignant ovarian neoplasms include:
1. Epithelial ovarian cancer (EOC): The most common type of ovarian cancer, which arises from the surface epithelium of the ovary.
2. Germ cell tumors: Tumors that develop from germ cells, which are the cells that give rise to eggs.
3. Stromal sarcomas: Tumors that develop in the supportive tissue of the ovary.
Ovarian neoplasms can cause symptoms such as pelvic pain, abnormal bleeding, and abdominal swelling. They can also be detected through pelvic examination, imaging tests such as ultrasound and CT scan, and biopsy. Treatment options for ovarian neoplasms depend on the type, stage, and location of the tumor, and may include surgery, chemotherapy, and radiation therapy.
Prenatal Exposure Delayed Effects can affect various aspects of the child's development, including:
1. Physical growth and development: PDEDs can lead to changes in the child's physical growth patterns, such as reduced birth weight, short stature, or delayed puberty.
2. Brain development: Prenatal exposure to certain substances can affect brain development, leading to learning disabilities, memory problems, and cognitive delays.
3. Behavioral and emotional development: Children exposed to PDEDs may exhibit behavioral and emotional difficulties, such as anxiety, depression, or attention deficit hyperactivity disorder (ADHD).
4. Immune system functioning: Prenatal exposure to certain substances can affect the immune system's development, making children more susceptible to infections and autoimmune diseases.
5. Reproductive health: Exposure to certain chemicals during fetal development may disrupt the reproductive system, leading to fertility problems or an increased risk of infertility later in life.
The diagnosis of Prenatal Exposure Delayed Effects often requires a comprehensive medical history and physical examination, as well as specialized tests such as imaging studies or laboratory assessments. Treatment for PDEDs typically involves addressing the underlying cause of exposure and providing appropriate interventions to manage any associated symptoms or developmental delays.
In summary, Prenatal Exposure Delayed Effects can have a profound impact on a child's growth, development, and overall health later in life. It is essential for healthcare providers to be aware of the potential risks and to monitor children exposed to substances during fetal development for any signs of PDEDs. With early diagnosis and appropriate interventions, it may be possible to mitigate or prevent some of these effects and improve outcomes for affected children.
Examples of precancerous conditions include:
1. Dysplasia: This is a condition where abnormal cells are present in the tissue, but have not yet invaded surrounding tissues. Dysplasia can be found in organs such as the cervix, colon, and breast.
2. Carcinoma in situ (CIS): This is a condition where cancer cells are present in the tissue, but have not yet invaded surrounding tissues. CIS is often found in organs such as the breast, prostate, and cervix.
3. Atypical hyperplasia: This is a condition where abnormal cells are present in the tissue, but they are not yet cancerous. Atypical hyperplasia can be found in organs such as the breast and uterus.
4. Lobular carcinoma in situ (LCIS): This is a condition where cancer cells are present in the milk-producing glands of the breasts, but have not yet invaded surrounding tissues. LCIS is often found in both breasts and can increase the risk of developing breast cancer.
5. Adenomas: These are small growths on the surface of the colon that can become malignant over time if left untreated.
6. Leukoplakia: This is a condition where thick, white patches develop on the tongue or inside the mouth. Leukoplakia can be a precancerous condition and may increase the risk of developing oral cancer.
7. Oral subsquamous carcinoma: This is a type of precancerous lesion that develops in the mouth and can progress to squamous cell carcinoma if left untreated.
8. Cervical intraepithelial neoplasia (CIN): This is a condition where abnormal cells are present on the surface of the cervix, but have not yet invaded surrounding tissues. CIN can progress to cancer over time if left untreated.
9. Vulvar intraepithelial neoplasia (VIN): This is a condition where abnormal cells are present on the vulva, but have not yet invaded surrounding tissues. VIN can progress to cancer over time if left untreated.
10. Penile intraepithelial neoplasia (PIN): This is a condition where abnormal cells are present on the penis, but have not yet invaded surrounding tissues. PIN can progress to cancer over time if left untreated.
It is important to note that not all precancerous conditions will develop into cancer, and some may resolve on their own without treatment. However, it is important to follow up with a healthcare provider to monitor any changes and determine the best course of treatment.
Liver neoplasms, also known as liver tumors or hepatic tumors, are abnormal growths of tissue in the liver. These growths can be benign (non-cancerous) or malignant (cancerous). Malignant liver tumors can be primary, meaning they originate in the liver, or metastatic, meaning they spread to the liver from another part of the body.
There are several types of liver neoplasms, including:
1. Hepatocellular carcinoma (HCC): This is the most common type of primary liver cancer and arises from the main cells of the liver (hepatocytes). HCC is often associated with cirrhosis and can be caused by viral hepatitis or alcohol abuse.
2. Cholangiocarcinoma: This type of cancer arises from the cells lining the bile ducts within the liver (cholangiocytes). Cholangiocarcinoma is rare and often diagnosed at an advanced stage.
3. Hemangiosarcoma: This is a rare type of cancer that originates in the blood vessels of the liver. It is most commonly seen in dogs but can also occur in humans.
4. Fibromas: These are benign tumors that arise from the connective tissue of the liver (fibrocytes). Fibromas are usually small and do not spread to other parts of the body.
5. Adenomas: These are benign tumors that arise from the glandular cells of the liver (hepatocytes). Adenomas are usually small and do not spread to other parts of the body.
The symptoms of liver neoplasms vary depending on their size, location, and whether they are benign or malignant. Common symptoms include abdominal pain, fatigue, weight loss, and jaundice (yellowing of the skin and eyes). Diagnosis is typically made through a combination of imaging tests such as CT scans, MRI scans, and ultrasound, and a biopsy to confirm the presence of cancer cells.
Treatment options for liver neoplasms depend on the type, size, location, and stage of the tumor, as well as the patient's overall health. Surgery may be an option for some patients with small, localized tumors, while others may require chemotherapy or radiation therapy to shrink the tumor before surgery can be performed. In some cases, liver transplantation may be necessary.
Prognosis for liver neoplasms varies depending on the type and stage of the cancer. In general, early detection and treatment improve the prognosis, while advanced-stage disease is associated with a poorer prognosis.
There are several risk factors for developing HCC, including:
* Cirrhosis, which can be caused by heavy alcohol consumption, viral hepatitis (such as hepatitis B and C), or fatty liver disease
* Family history of liver disease
* Chronic obstructive pulmonary disease (COPD)
HCC can be challenging to diagnose, as the symptoms are non-specific and can be similar to those of other conditions. However, some common symptoms of HCC include:
* Yellowing of the skin and eyes (jaundice)
* Loss of appetite
* Abdominal pain or discomfort
* Weight loss
If HCC is suspected, a doctor may perform several tests to confirm the diagnosis, including:
* Imaging tests, such as ultrasound, CT scan, or MRI, to look for tumors in the liver
* Blood tests to check for liver function and detect certain substances that are produced by the liver
* Biopsy, which involves removing a small sample of tissue from the liver to examine under a microscope
Once HCC is diagnosed, treatment options will depend on several factors, including the stage and location of the cancer, the patient's overall health, and their personal preferences. Treatment options may include:
* Surgery to remove the tumor or parts of the liver
* Ablation, which involves destroying the cancer cells using heat or cold
* Chemoembolization, which involves injecting chemotherapy drugs into the hepatic artery to reach the cancer cells
* Targeted therapy, which uses drugs or other substances to target specific molecules that are involved in the growth and spread of the cancer
Overall, the prognosis for HCC is poor, with a 5-year survival rate of approximately 20%. However, early detection and treatment can improve outcomes. It is important for individuals at high risk for HCC to be monitored regularly by a healthcare provider, and to seek medical attention if they experience any symptoms.
Etymology: Named after J. Russell Silver, an American pediatrician who first described the condition in 1963.
Synonyms: Mup14 deficiency syndrome, maternal uniparental disomy 14 syndrome, Russell Silver syndrome.
Prevalence: Estimated to affect 1 in 25,000 to 1 in 50,000 births worldwide.
Incidence: The incidence of mup14 deficiency is estimated to be 1 in 100,000 to 1 in 200,000 births.
Causes and risk factors: Silver-Russell syndrome is caused by a genetic defect that results in the absence or incomplete expression of mup14, a gene located on chromosome 14. The condition is usually inherited from the mother, who must be a carrier of the mutated gene. In some cases, the condition may occur spontaneously due to a random genetic mutation during embryonic development.
Symptoms: The symptoms of Silver-Russell syndrome can vary in severity and may include:
* Delayed growth and development
* Intellectual disability or learning difficulties
* Small stature and low body mass index (BMI)
* Distinctive physical features such as small, low-set ears, a narrow forehead, and a short neck
* Increased risk of infections due to impaired immune function
* Congenital anomalies such as heart defects or cleft palate
Diagnosis: Silver-Russell syndrome is typically diagnosed through a combination of clinical evaluation, genetic testing, and prenatal screening. Chromosomal analysis can identify mup14 mutations in most cases, but in some instances, the condition may be diagnosed using molecular genetic tests such as PCR or FISH.
Treatment: There is no cure for Silver-Russell syndrome, and treatment is focused on managing the symptoms and preventing complications. This may include:
* Growth hormone therapy to promote growth and development
* Antibiotics to treat infections
* Speech therapy and special education to address learning difficulties
* Surgery to correct congenital anomalies such as heart defects or cleft palate
Prognosis: The prognosis for individuals with Silver-Russell syndrome varies depending on the severity of the condition and the presence of any additional health issues. With appropriate treatment, many individuals with the condition can lead fulfilling lives, but they may require ongoing medical care and support throughout their lives.
In conclusion, Silver-Russell syndrome is a rare genetic disorder that affects growth and development, often resulting in small stature and intellectual disability. While there is no cure for the condition, early diagnosis and appropriate treatment can help manage symptoms and prevent complications. With ongoing medical care and support, individuals with Silver-Russell syndrome can lead fulfilling lives.
There are several subtypes of carcinoma, including:
1. Adenocarcinoma: This type of carcinoma originates in glandular cells, which produce fluids or mucus. Examples include breast cancer, prostate cancer, and colon cancer.
2. Squamous cell carcinoma: This type of carcinoma originates in squamous cells, which are found on the surface layers of skin and mucous membranes. Examples include head and neck cancers, cervical cancer, and anal cancer.
3. Basal cell carcinoma: This type of carcinoma originates in the deepest layer of skin, called the basal layer. It is the most common type of skin cancer and tends to grow slowly.
4. Neuroendocrine carcinoma: This type of carcinoma originates in cells that produce hormones and neurotransmitters. Examples include lung cancer, pancreatic cancer, and thyroid cancer.
5. Small cell carcinoma: This type of carcinoma is a highly aggressive form of lung cancer that spreads quickly to other parts of the body.
The signs and symptoms of carcinoma depend on the location and stage of the cancer. Some common symptoms include:
* A lump or mass
* Skin changes, such as a new mole or a change in the color or texture of the skin
* Changes in bowel or bladder habits
* Abnormal bleeding
The diagnosis of carcinoma typically involves a combination of imaging tests, such as X-rays, CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a small sample of tissue for examination under a microscope. Treatment options for carcinoma depend on the location and stage of the cancer and may include surgery, radiation therapy, chemotherapy, or a combination of these.
In conclusion, carcinoma is a type of cancer that originates in epithelial cells and can occur in various parts of the body. Early detection and treatment are important for improving outcomes.
1. American Cancer Society. (2022). Carcinoma. Retrieved from
2. Mayo Clinic. (2022). Carcinoma. Retrieved from
3. MedlinePlus. (2022). Carcinoma. Retrieved from
These tumors can be benign or malignant, and their growth and behavior vary depending on the type of cancer. Malignant tumors can invade the surrounding tissues and spread to other parts of the body through the bloodstream or lymphatic system, causing serious complications and potentially life-threatening consequences.
The risk factors for developing urinary bladder neoplasms include smoking, exposure to certain chemicals, recurrent bladder infections, and a family history of bladder cancer. The symptoms of these tumors can include blood in the urine, pain during urination, frequent urination, and abdominal pain.
Diagnosis of urinary bladder neoplasms is typically made through a combination of imaging tests such as ultrasound, computed tomography (CT) scan or magnetic resonance imaging (MRI), and cystoscopy, which involves inserting a flexible tube with a camera into the bladder to visualize the tumor.
Treatment options for urinary bladder neoplasms depend on the type of cancer, stage, and location of the tumor. Treatment may include surgery to remove the tumor, chemotherapy, radiation therapy, or a combination of these modalities. Early detection and treatment can improve the prognosis for patients with urinary bladder neoplasms.
Adenomas are caused by genetic mutations that occur in the DNA of the affected cells. These mutations can be inherited or acquired through exposure to environmental factors such as tobacco smoke, radiation, or certain chemicals.
The symptoms of an adenoma can vary depending on its location and size. In general, they may include abdominal pain, bleeding, or changes in bowel movements. If the adenoma becomes large enough, it can obstruct the normal functioning of the affected organ or cause a blockage that can lead to severe health complications.
Adenomas are usually diagnosed through endoscopy, which involves inserting a flexible tube with a camera into the affected organ to visualize the inside. Biopsies may also be taken to confirm the presence of cancerous cells.
Treatment for adenomas depends on their size, location, and severity. Small, non-pedunculated adenomas can often be removed during endoscopy through a procedure called endoscopic mucosal resection (EMR). Larger adenomas may require surgical resection, and in some cases, chemotherapy or radiation therapy may also be necessary.
In summary, adenoma is a type of benign tumor that can occur in glandular tissue throughout the body. While they are not cancerous, they have the potential to become malignant over time if left untreated. Therefore, it is important to seek medical attention if symptoms persist or worsen over time. Early detection and treatment can help prevent complications and improve outcomes for patients with adenomas.
DNA methylation in cancer
RNA-directed DNA methylation
Decrease in DNA Methylation I (DDM1)
DNA base flipping
Epigenetics of autism
Epigenetics & Chromatin
Development of the nervous system
Epigenetic effects of smoking
Arthur Riggs (geneticist)
Reactive oxygen species
DNA damage (naturally occurring)
CKLF-like MARVEL transmembrane domain-containing 5
Transgenerational stress inheritance
Mir-542 microRNA precursor family
Short interspersed nuclear element
Multiplex ligation-dependent probe amplification
Sex-chromosome dosage compensation
DNA damage theory of aging
The Gene: An Intimate History
DNA (cytosine-5)-methyltransferase 3A
Pregnancy exposure to phthalates and DNA methylation in male placenta - An epigenome-wide association study - PubMed
DNA Methylation Profiles and Breast Cancer among WTC Survivors - WTC Health Program Research Gateway
Pulmonary Function and Blood DNA Methylation: A Multi-ancestry Epigenome-wide Association Meta-analysis
Grant Abstract: Modeling Folate, One-Carbon Metabolism & DNA Methylation
DNA Methylation - MeSH - NCBI
Gene DNA methylation values
RFA-CA-03-016: DIET, DNA METHYLATION AND OTHER EPIGENETIC EVENTS, AND CANCER PREVENTION
Environment, Fetal Tissue DNA Methylation & Birthweight
RFA-CA-03-016: DIET, DNA METHYLATION AND OTHER EPIGENETIC EVENTS, AND CANCER PREVENTION
Frontiers | DNA Methylation: A Timeline of Methods and Applications
DNA Methylation Analysis | Bisulfite Analysis | QIAGEN
DNA Methylation Analysis | Bisulfite Analysis | QIAGEN
Developmental regulation of DNA cytosine methylation at the immunoglobulin heavy chain constant locus
DNA-methylation dynamics across short-term, exposure-containing CBT in patients with panic disorder | Translational Psychiatry
Integrated DNA Methylation/RNA Profiling in Middle Temporal Gyrus of Alzheimer's Disease - PubMed
Indirect epigenetic testing identifies a diagnostic signature of cardiomyocyte DNA methylation in heart failure | SpringerLink
Genome-wide DNA methylation and long-term ambient air pollution exposure in Korean adults | RTI
DNA methylation Archives - On Medicine
Scientific Interest Group - Sexual Dimorphism in DNA Methylation as a Modifier of Predisposition to Human Disease | Office of...
On Aging: Analyses of Long-term Fine Particulate Air Pollution Exposure, Genetic Variants, and Blood DNA Methylation Age in the...
Detection of Prostate Cancer With Non-invasive Method Based on DNA Methylation of Circulated Tumor DNA, PBMC - Full Text View -...
Placental DNA methylation levels at CYP2E1 and IRS2 are associated with child outcome in a prospective autism study - PubMed
DNA methylation profiles of lung tumors.
Integrative DNA Methylation and Gene Expression Analyses Identify DNA Packaging and Epigenetic Regulatory Genes Associated with...
Fluoride Action Network | Effects of fluoride on the proliferation and activation of osteoblasts by regulating methylation...
Development of a pan-cancer DNA methylation biomarker | NIH Research Festival
DNA methylation of genes involved in the HPA axis in presence of suicide behavior: A systematic review - Centre for Suicide...
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
DNA methylation markers to predict treatment success of biologicals in Crohn's disease - King's College London
Characterisation of ethnic differences in DNA methylation between UK resident South Asians and Europeans - ...
- 2 Laboratory for Epigenetics and Environment, Centre National de Recherche en Génomique Humaine, CEA - Institut de Biologie François Jacob, University Paris Saclay, Evry, France. (nih.gov)
- This model will integrate knowledge of enzyme kinetics, genetics and epigenetics, and nutrition, and will enable us to investigate (1) mechanisms by which dietary factors influence DNA methylation, and (2) increase our understanding of these processes in cancer prevention. (nih.gov)
- The approach is to encourage collaboration between nutrition and epigenetic /DNA methylation experts to study bioactive food components with cancer preventative properties, and to examine key epigenetic events in cancer processes (i.e., carcinogen metabolism, cell division, differentiation, apoptosis) so that investigators can begin to establish linkages between epigenetics, methylation pattern, and tumor incidence/behavior. (nih.gov)
- Epigenetics refers to a multitude of chemical and protein "marks" on a cell's DNA-patterns that vary among cells and help to determine which genes are switched on or off. (nih.gov)
Blood DNA Methylation1
- The utility of blood DNA methylation as a biomarker for Lewy body disorders (LBD) is mostly unexplored. (nih.gov)
- Actually DNA methylation is the covalent addition of a methyl group to the 5 position of cytosine within CpG dinucleotides and is a fundamental process that not only modulates gene expression, but is also key to regulating chromosomal stability. (nih.gov)
- DNA methylation is a biochemical process where a DNA base, usually cytosine, is enzymatically methylated at the 5-carbon position. (frontiersin.org)
- With the advent of sodium bisulfite treatment of DNA, a deamination reaction that converts cytosine to uracil only when unmethylated, the epigenetic modification can now be identified in the same manner as a DNA base-pair change. (frontiersin.org)
- It was understood that these bacteria carried out methylation in a highly specific manner, but the significance of cytosine methylation in eukaryotes was not fully realized until later. (frontiersin.org)
- DNA cytosine methylation is involved in the regulation of gene expression during development and its deregulation is often associated with disease. (nih.gov)
- We used ligation-mediated polymerase chain reaction (PCR) for a genomic sequencing study in which 450 bp of the human PGK-1 promoter region was analyzed for the presence of in vivo protein footprints and cytosine methylation at all CpG sites. (oregonstate.edu)
- HepG2 cells were constructed to stably express mitochondria -targeted viral and prokaryotic cytosine DNA methyltransferases (mtM.CviPI or mtM.SssI for GpC or CpG methylation , respectively). (bvsalud.org)
- In contrast, hepatic Nd6 mitochondrial gene body cytosine methylation and Nd6 gene expression were increased in mice fed a high-fat high cholesterol diet (HFC for 6 or 20 weeks), when compared to controls, while mtDNA content was unchanged. (bvsalud.org)
- Thus, this technology provides numerous opportunities for investigations into cytosine methylation patterns, ultimately benefiting efforts of early detection, control and prevention of many chronic and infectious diseases. (nih.gov)
- The following years would see molecular techniques being employed to indirectly examine DNA methylation levels at both a genome-wide and locus-specific context, notably immunoprecipitation via anti-5′methylcytosine and selective digestion with methylation-sensitive restriction endonucleases. (frontiersin.org)
- We moreover report cg01699630 annotated to ARG1 to undergo long lasting methylation changes during therapy (paired t test, genome-wide adj. (nature.com)
- Given this unique property, MNase has mainly been used to investigate genome-wide nucleosomal occupancy and positioning, in which DNA fragments from 150 to 200 bp, which represent nucleosome footprints, are analyzed. (biomedcentral.com)
- We investigated for the first time the changes in the genome-wide DNA methylation profile and the differentiation behavior of GSCs induced by short-term and long-term VPA treatments. (spandidos-publications.com)
- In the current study, we aimed to identify genes and pathways associated with pregnancy anxiety using a genome-wide DNA methylation approach. (eur.nl)
- Cord blood genome-wide DNA methylation was assayed using the HumanMethylation450 BeadChip (HM450, n=45) and candidate gene methylation using EpiTYPER (n=80). (eur.nl)
- The differential methylation signals can serve as potential air pollution biomarkers. (rti.org)
- In this study, we tested the magnitude and pattern of differential methylation of a 302-bp region at ZNF154 using next generation sequencing of bisulfite converted DNA amplified from 184 tumor and 34 normal colon, lung, breast, stomach, and endometrial tissue samples. (nih.gov)
- We identified 5 novel CpG candidates that demonstrate differential methylation patterns associated with smoke exposure in lung neoplasms. (oncotarget.com)
- Conclusions: In conclusion, our results show that pregnancy anxiety is associated with differential DNA methylation patterns in newborns and that our candidate gene GABBR1 is associated with infant hypothalamic-pituitary-adrenal axis response to a stressor. (eur.nl)
- Differential methylation within the mitochondrial DNA ( mtDNA ) has been suggested to be associated with dysfunctional mitochondria , also during progression to Metabolic Steatohepatitis (MeSH). (bvsalud.org)
- DLB blood shows differential methylation compared to PDD. (nih.gov)
- Hypermethylation is associated with the inactivation of virtually all pathways involved with the cancer process, including DNA repair (e.g., hMLH1, BRCA1, MGMT), cell cycle regulation (e.g., p16(INK4a), PTEN), inflammatory/stress response (e.g. (nih.gov)
- We determined the frequency of aberrant promoter methylation of the p16, adenomatous polyposis coli (APC), H-cadherin (CDH13), glutathione S-transferase P1 (GSTP1), O6-methylguanine-DNA-methyltransferase (MGMT), retinoic acid receptor beta-2 (RAR beta), E-cadherin (CDH1), and RAS association domain family 1A (RASSF1A) genes in 198 tumors consisting of small cell lung cancers [SCLCs (n = 43)], non-small cell lung cancers [NSCLCs (n = 115)], and bronchial carcinoids (n = 40). (nih.gov)
- Effects of fluoride on the proliferation and activation of osteoblasts by regulating methylation of the DNA repair genes MGMT and MLH1. (fluoridealert.org)
- In addition, the methylation of the MGMT and MLH1 genes was increased, and their mRNA expression was reduced. (fluoridealert.org)
- Meanwhile, 5-AZA-dC suppressed the increase in MGMT and MLH1 gene methylation in osteoblasts treated with low doses of NaF, leading to enhanced expression of MGMT and MLH1 mRNA. (fluoridealert.org)
- NaF treatment led to methylation of the DNA repair genes MGMT and MLH1 in osteoblasts, resulting in cell proliferation and activation and causing the development of skeletal fluorosis. (fluoridealert.org)
- O6-Methylguanine-DNA methyltransferase (MGMT) is a ubiquitous DNA repair protein that can correct the mismatch of O6 alkyl guanine and directly reverse DNA damage, which plays a key role in the early repair process of DNA damage [ 7 ]. (fluoridealert.org)
- In addition to its repair function, MGMT also protects DNA and protects chromatin from chemical carcinogens and cytotoxic attacks, maintaining the original appearance of the DNA [ 8 ]. (fluoridealert.org)
- Finally, since short-term VPA treatment induced a reversal of the MGMT methylation status, we aimed to sensitize GSCs to temozolomide, the drug commonly used for this tumor, using this regimen. (spandidos-publications.com)
- A simple quantitative diagnostic alternative for MGMT DNA-methylation testing on RCL2 fixed paraffin embedded tumors using restriction coupled qPCR. (bvsalud.org)
- MGMT promoter methylation is associated with favorable prognosis and chemosensitivity in glioblastoma multiforme (GBM), especially in elderly patients . (bvsalud.org)
- We aimed to develop a simple methylation -sensitive restriction enzyme (MSRE)-based quantitative PCR (qPCR) assay, allowing the quantification of MGMT promoter methylation . (bvsalud.org)
- DNA from both RCL2-fixed and fresh frozen tissues performed equally well and was further used for validation of the quantitative MGMT methylation assay ( limit of detection (LOD) 19.58 pg), using individual's undigested sample DNA for calibration . (bvsalud.org)
- MGMT methylation analysis in non-neoplastic brain identified a background methylation of 0.10 ± 11% which we used for defining a cut-off of 0.32% for patient stratification. (bvsalud.org)
- The presented methodology allows quantitative MGMT promoter methylation analyses. (bvsalud.org)
- Global DNA Methylation Patterns Global hypomethylation, accompanied by region-specific hypermethylation, is a common characteristic among tumor cells. (nih.gov)
- The purpose of this study is to develop and test non-invasive biomarkers based on methylation changes in PBMC, T-cells and circulated tumor DNA in prostate cancer patients. (clinicaltrials.gov)
- Aberrant methylation of CpG islands in promoter regions of tumor cells is one of the major mechanisms for silencing of tumor suppressor genes. (nih.gov)
- In general, methylation frequencies were higher in tumor cell lines, but these differences were seldom significant. (nih.gov)
- Thus, tumor cell lines appear to be suitable models to study aberrant DNA methylation. (nih.gov)
- Blood-based biomarkers that are effective at detecting the presence of tumor DNA from early stages are sought-after for their relatively low invasiveness. (nih.gov)
- In a previous study, we have identified a putative DNA methylation biomarker located in the promoter region of the ZNF154 gene, which we found to be hypermethylated in 15 different solid tumor types relative to normal tissue. (nih.gov)
- Computational simulations of different concentrations of the tumor DNA diluted in normal DNA show that analysis of individual sequencing reads provides a more effective screening tool. (nih.gov)
- Here, our preliminary data suggest that ZNF154 can be used to detect a tumor signal in cell-free DNA extracted from blood plasma samples. (nih.gov)
- The combination of RCL2-fixation and quantitative methylation analyses improves pathological routine examination when histological and molecular analyses on limited amounts of tumor samples are necessary for patient stratification. (bvsalud.org)
- The main objective of the project is to assess and validate the role of DNA methylation as objective marker of WTC exposure-related breast cancer among general population of survivors, specifically women. (cdc.gov)
- For the first time, we explored the dynamics and magnitude of DNA-methylation and immune cell-type composition during CBT ( n = 38) and the therapeutic exposure intervention ( n = 21) to unravel their biological correlates and identify possible biomarkers of therapy success. (nature.com)
- Our results provide evidence of changes in the serotonin receptor 3 A methylation and expression during fear exposure associated with different long-term CBT trajectories and outcome, making it a possible candidate in the search of markers for therapy success. (nature.com)
- To evaluate associations of long-term air pollution exposure with DNA methylation in blood, we conducted an epigenome-wide association study in a Korean chronic obstructive pulmonary disease cohort (N = 100 including 60 cases) using Illumina's Infinium HumanMethylation450K Beadchip. (rti.org)
- CONCLUSIONS: This study provides evidence that long-term ambient air pollution exposure impacts DNA methylation. (rti.org)
- We identified gender-specific differences in global DNA methylation levels, but no significant DNA methylation changes in exposure responses to the first trimester maternal cigarette smoking. (au.dk)
- The objective of this study is to examine the effects of smoke exposure on DNA methylation to search for novel susceptibility loci. (oncotarget.com)
- Here, we find that methylation patterns at most cis-acting elements of the IgH constant genes are established and maintained independently of B cell activation or promoter activity. (nih.gov)
- In vivo footprint and methylation analysis by PCR-aided genomic sequencing: comparison of active and inactive X chromosomal DNA at the CpG island and promoter of human PGK-1. (oregonstate.edu)
- As a result, DNA methylation levels, proteins, and genes involved in the HPA axis could be considered for the search for biomarkers for the prevention of suicidal behavior in future studies. (suicideinfo.ca)
- DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor. (nih.gov)
- A variety of regulatory proteins including DNA methyltransferases, methyl-CpG binding proteins, histone- modifying enzymes, chromatin remodeling factors, and their multimolecular complexes are involved in the overall epigenetic process. (nih.gov)
- DNA methyltransferases). (nih.gov)
- Array-based DNA methylation analysis of plasma-treated hiPSC-CMs and cardiac biopsies uncovered robust, and conserved, alterations in cardiac DNA methylation, from which 100 sites were validated using an independent cohort. (springer.com)
- Maternal smoking induces gene-specific DNA methylation alterations as well as global DNA hypermethylation in the term placentas and hypomethylation in the cord blood. (au.dk)
- Alterations in DNA methylation in primary aortic tissue are associated with BAV in euploid individuals. (nih.gov)
- Global DNA methylation levels were quantified with ELISA using a methylcytosine antibody as well as with the bisulfite pyrosequencing of surrogate markers for global methylation status, LINE-1, and AluYb8. (au.dk)
- CONCLUSIONS: Acknowledging that only examining subsets of global DNA methylation markers and fetal sample availability represents possible limitations for the analyses, our presented results indicate that the first trimester maternal cigarette smoking is not manifested in immediate aberrations of fetal global DNA methylation. (au.dk)
- Abstract: DESCRIPTION (provided by applicant): The goal of this proposal is to create a mathematical model of folate-mediated one-carbon metabolism (FOCM) and its relation to DNA methylation. (nih.gov)
- Altered folate metabolism is associated with changes in global and regional DNA methylation patterns, deficiencies in DNA synthesis and repair, and altered methionine cycle kinetics. (nih.gov)
- Stress including that resulting from dietary methionine/choline, folate, zinc, and selenium inadequacy, as well as excessive alcohol intake can lead to global DNA hypomethylation. (nih.gov)
- Clinically, global DNA hypomethylation has been observed in lymphocytic DNA from individuals consuming inadequate folate. (nih.gov)
- Several mechanisms may mediate the effects of alcohol on DNA methylation, including reduced folate levels and inhibition of key enzymes in one-carbon metabolism that ultimately lead to lower SAMe levels, as well as inhibition of activity and expression of enzymes involved in DNA methylation (i.e. (nih.gov)
- There were also significant differences in the methylation profiles between the two major types of NSCLC, adenocarcinoma and squamous cell carcinoma. (nih.gov)
- DNA methylation is one underexplored mechanism that may explain differences in disease risk. (ucl.ac.uk)
- DNA methylation differences between ethnicities were widespread throughout the genome (n=16,433 CpG sites, 3.4% sites tested). (ucl.ac.uk)
- To test whether lipid accumulation causes mtDNA methylation , HepG2 cells were subjected to 1 or 2 weeks of fatty acid treatment , but no clear differences in mtDNA methylation were detected. (bvsalud.org)
- We provide an overview of recent findings regarding DNA methylation deficits causing BiCHM, MLID, and early embryonic arrest. (cam.ac.uk)
- The implications of these findings with regard to the maintenance of methylation-free islands, X chromosome inactivation, and the chromatin structure of facultative heterochromatin are discussed. (oregonstate.edu)
- Our findings reveal a potential role for GABBR1 methylation in association with stress and provide grounds for further research. (eur.nl)
- Overall, these findings suggest that altered DNA methylation affecting key aortic valve development genes contributes to the greatly increased risk for BAV in TS. (nih.gov)
- The data is queryable by gene or chromosomal location using Query Genomic Data under "DNA: Illumina 450K methylation" ( http://discover.nci.nih.gov/cellminer/queryLoad.do ). (nih.gov)
- DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting. (cam.ac.uk)
- The finding that defects in a cytoplasmic protein complex could have severe impacts on genomic methylation at critical times in gamete or early embryo development has wider implications beyond these relatively rare disorders. (cam.ac.uk)
- Most interestingly, genomic regions containing sMHSs are enriched with epigenetic marks, including H3K27me3 and DNA methylation. (biomedcentral.com)
- The bisulfite sequencing PCR (BSP) is a sensitive approach for directly detecting and analyzing the methylation pattern of genomic DNA, and the techniques involved include bisulfite conversion , PCR amplification and Sanger sequencing. (creativebiomart.net)
- For the investigation of DNA methylation patterns, bisulfite sequencing PCR (BSP) is a classical method for choice. (creativebiomart.net)
- After DNA samples are treated with bisulfite, primers are designed for PCR amplification of the target fragment, and the PCR products are cloned and sequenced. (creativebiomart.net)
- DNA methylation analysis by bisulfite conversion, cloning, and sequencing of individual clones. (creativebiomart.net)
- Independently, a similar paper by Arthur Riggs presented the same hypothesis, this time focusing on the role of DNA methylation in X-inactivation and in mediating DNA binding proteins ( Riggs, 1975 ). (frontiersin.org)
- Open chromatin that lacks protection of nucleosomes is preferentially attacked by these enzymes, which resulted in small DNA fragments associated with regulatory proteins. (biomedcentral.com)
- Inside our cells, strands of DNA wrap around spool-like histone proteins to form a DNA-histone complex called chromatin. (nih.gov)
- The epigenome is made up of chemical tags and proteins that can attach to the DNA and direct such actions as turning genes on or off, thereby controlling the production of proteins in particular cells. (nih.gov)
- Typically, this group is added to specific places on the DNA, where it blocks the proteins that attach to DNA to "read" the gene. (cdc.gov)
- DNA wraps around proteins called histones. (cdc.gov)
- When histones are tightly packed together, proteins that 'read' the gene cannot access the DNA as easily, so the gene is turned "off. (cdc.gov)
- When histones are loosely packed, more DNA is exposed or not wrapped around a histone and can be accessed by proteins that 'read' the gene, so the gene is turned "on. (cdc.gov)
- Placenta, normally discarded at birth, is a potentially rich source of DNA methylation patterns predictive of ASD in the child. (nih.gov)
- Addition of methyl groups to DNA. (nih.gov)
- The second mechanism is that nutrients may modify utilization of methyl groups by processes including shifts in DNA methyltransferase activity. (nih.gov)
- While limitations in the supply of methyl groups appear to be a common mechanism, available data suggest that other factors determining DNA methylation, including DNA methyltransferase (Dnmt), may be influenced by bioactive food components. (nih.gov)
- Even though there was no direct evidence of a specific methylating enzyme, Holliday and Pugh (1975) based their early DNA methylation model in eukaryotes on the mechanisms of bacterial methylating enzymes, and the fact that methyl groups are distributed about the genome in a non-random manner. (frontiersin.org)
- Background: There is increasing evidence for the role of prenatal stress in shaping offspring DNA methylation and disease susceptibility. (eur.nl)
- An epigenetic modification associated with gene regulation, DNA methylation is of paramount importance to biological health and disease. (frontiersin.org)
- Thus, evidence exists that variations in the degree or site of DNA methylation can lead to abnormal DNA repair and influence multiple cancer related genes and thereby influence the incidence and behavior of tumors. (nih.gov)
- DNA methylation in genes of the hypothalamic-pituitary-adrenal (HPA) axis has been associated with suicide behavior. (suicideinfo.ca)
- Through a systematic review, we aimed to evaluate DNA methylation levels of the genes involved in the HPA pathway and their association with suicide behavior. (suicideinfo.ca)
- Our result showed that patients with suicidal behavior showed a DNA methylation state of genes of the HPA axis in association with psychiatric comorbidity and with adverse events. (suicideinfo.ca)
- However, whereas the overall pattern of aberrant methylation of carcinoids was similar to that of SCLC, carcinoids had lower frequencies of methylation for some of the genes tested. (nih.gov)
- We conclude that SCLC, carcinoids, squamous cell carcinomas, and adenocarcinomas of the lung have unique profiles of aberrant methylation. (nih.gov)
- However, increasing evidence suggests that aberrant patterns of DNA methylation, an important epigenetic mechanism of transcriptional control, also could be part of the pathogenetic mechanisms that lead to alcohol-induced cancer development. (nih.gov)
- We obtained epigenome-wide DNA methylation data from lung adenocarcinoma (LUAD) and lung squamous cell (LUSC) tissues in The Cancer Genome Atlas (TCGA). (oncotarget.com)
- we currently accept DNA, cell, tissue, and formalin fixed paraffin-embedded (FFPE) tissues for our BSP service. (creativebiomart.net)
- Since linker DNA is preferentially attacked by MNase, chromatin treated with MNase would be digested into a nucleosomal ladder and eventually result in nucleosome cores protected by ~ 147 bp DNA [ 19 , 21 ]. (biomedcentral.com)
- What interests him is the fact that an approximately 6-foot-long strand of DNA can be folded and packed into orderly chromatin structures inside a cell nucleus that's just 0.0002 inch wide. (nih.gov)
- Bernstein's fascination with DNA packaging led to the recent major discovery that, when chromatin misfolds in brain cells, it can activate a gene associated with the cancer glioma . (nih.gov)
- In parallel, a growing body of literature has demonstrated that all 4 of these risk factors can alter DNA methylation, suggesting a common pathway by which such environmental factors impair fetal growth. (nih.gov)
- We have assessed the influence of maternal cigarette smoking during the first trimester for fetal global DNA methylation. (au.dk)
- Furthermore, the DNA methyltransferase inhibitor 5-AZA-dC suppressed cell viability , cell number in S-phase, ALP activity and osteogenesis-related protein levels in osteoblasts treated with low doses of NaF. (fluoridealert.org)
- Methylation levels of 39 DMPs were associated with expression levels of nearby genes in a separate dataset of 3075 individuals. (rti.org)
- Smoking was negatively associated with methylation levels in cg25771041 ( WWTR1 , p = 3.6 × 10 −9 ), cg16200496 ( NFIX , p = 3.4 × 10 −12 ), cg22515201 ( PLA2G6 , p = 1.0 × 10 −9 ) and cg24823993 ( NHP2L1 , p = 5.1 × 10 −8 ) and positively associated with the methylation level in cg11875268 ( SMUG1 , p = 4.3 × 10 −8 ). (oncotarget.com)
- Cord blood GABBR1 methylation was associated with infant cortisol levels in response to a routine vaccination at 4months old. (eur.nl)
- Previous studies on CpG methylation led to the notion that transcription initiation is more sensitive to CpG methylation than transcriptional elongation. (nih.gov)
- The abnormal methylation of the mismatch repair gene MLH1 can lead to the transcriptional inactivation of mRNA and the loss of protein expression , which will result in defects in the mismatch repair function of the body, thus causing instability of the whole genome and eventually leading to the occurrence of tumours [ 9 ]. (fluoridealert.org)
- In osteoblasts treated with NaF, excessive methylation of p16 has been reported to be induced, causing increased cell proliferation , prolonged S-phase of the cell cycle, and skeletal fluorosis progression, while the methylation inhibitor 5-aza-2-deoxycytidine (5-AZA-dC) reverses the hypermethylation of p16 induced by NaF [ 6 ]. (fluoridealert.org)
- This study further investigates whether mtDNA methylation is associated with hepatic lipid accumulation and MAFLD. (bvsalud.org)
- This study warrants further investigation into a role for mtDNA methylation in promoting mitochondrial dysfunction and impaired lipid metabolism in MAFLD. (bvsalud.org)
- Our study is the first to explore LBD blood methylation. (nih.gov)
- Abnormal DNA methylation patterns are a hallmark of most cancers, including those of high proportion in the United States i.e., colon, lung, prostate, and breast cancer. (nih.gov)
- Gene methylation was examined using the MSP assay. (fluoridealert.org)
- We performed a two-stage discovery ( n = 326) and validation ( n = 185) analysis to investigate the association of epigenetic DNA methylation level with cigarette smoking pack-years. (oncotarget.com)
- As a professional epigenetic research services provider, Creative BioMart offers customized BSP service of high quality, from primer design to complete analytical reports to meet your project requirements and budgets in the exploration of DNA methylation analysis. (creativebiomart.net)
- Our state-of-the-art labs are staffed by some of the well-trained and experienced experts in the DNA methylation analysis field. (creativebiomart.net)
- Publication: DNA Methylation Analysis of Turner Syndrome BAV. (nih.gov)
- We performed a cross‐sectional analysis of blood methylation in 42 DLB and 50 PDD cases applying linear models to compare groups and logistic least absolute shrinkage and selection operator regression to explore the discriminant power of methylation signals. (nih.gov)
- As a defence mechanism, bacteria use a plethora of very specific DNA digesting enzymes to ward off invading phages. (frontiersin.org)
- These enzymes cleave DNA based on a target nucleotide sequence, usually a palindrome motif of several bases, so the enzymes have no way of differentiating between viral and bacterial DNA. (frontiersin.org)
- A restriction/modification mechanism allows bacterial cells to protect their own DNA from restriction enzymes by introducing a DNA methylation signature into newly synthesized strands (reviewed in Bickle and Krüger, 1993 ). (frontiersin.org)
- The developmental B cell stage at which methylation patterns of the IgH constant genes are established, and the role of CpG methylation in their expression, are unknown. (nih.gov)
- epigenetic effects including altered DNA methylation could play a role. (rti.org)
- In particular, it discusses the role of DNA methylation in carcinogenesis and how alcohol may affect the pathways that regulate the availability of S-adenosylmethionine (SAMe), the principal biological methyl donor for methylation reactions. (nih.gov)
- DNA methylation profiles of lung tumors. (nih.gov)
- The Xi did not show any specifically protected sequences, and with the exception of four hyperreactive sites, the in vivo DMS reactivity profile of Xi DNA was very similar to that of purified, linear Xi DNA. (oregonstate.edu)
- Methylation data will be returned to the hospital for follow up of progression of disease and for assessing early prediction of progression of Prostate cancer and will be entered into the data base. (clinicaltrials.gov)
- In vivo footprinting studies with dimethylsulfate (DMS) revealed eight regions of apparent protein-DNA contacts on the Xa. (oregonstate.edu)
- Finally, we compared the methylation profiles of SCLC and NSCLC tumors and their respective cell lines (n = 44). (nih.gov)