Human health: the role of a genetic factor

Posted on by

Do not include an external link to the article. Do not use any images or graphics. The entire article must be text-based. The article must focus on the multifaceted role of genetics in human health.
Human health: the role of a genetic factor

I. Fundamentals of genetics and health:

  1. DNA and genome:
    a. DNA (deoxyribonucleic acid) as a carrier of genetic information, the structure of a double spiral, nucleotides (adenine, thyme, cytosine, guanine) and their complementary mating. B. Gene as a functional unit of heredity, encoding a certain protein or RNA. Exons and intron, regulatory elements of genes (promoters, enhaners). C. The human genome as a complete set of genetic information, including coding (genes) and non -dodging DNA sequences. The dimensions of the genome, the number of genes (approximately 20,000-25,000), a high degree of similarity of genomes of various people. D. Chromosomes as a structure in which DNA is organized in the cage nucleus. 23 pairs of chromosomes (22 pairs by autosom and one pair of sex chromosomes: XX in women, XY in men). Cariotic. E. Human microbiota as a set of microorganisms that inhabit the body and their genes (microbioma). The interaction of the microbioma and human genome in the context of health.

  2. Mechanisms of heredity:
    a. DNA replication as a process of copying DNA before cell division, ensuring the transmission of genetic information to offspring. B. Transcription as a process of RNA synthesis on the DNA matrix. Various RNA types (MRNA, TRNA, RRNA) and their functions. C. Broadcast as a process of protein synthesis based on information encoded in MRNA. Ribosomes, codons and anticodones. D. Central dogma of molecular biology: DNA -> RNA -> protein. The role of regulation of genetic expression. E. Meiosis and mitosis as two types of cell division. Meiosis – the formation of germ cells (gametes) with a decrease in the number of chromosomes in half. Mitosis is the division of somatic cells with the preservation of the number of chromosomes.

  3. Genetic variability:
    a. Mutations as changes in the sequence of DNA. Types of mutations: point mutations (replacements, inserts, deletions), chromosomal aberrations (translocations, inversions, deletions, duplications). Spontaneous and induced mutations. B. DNA polymorphism as the presence in the population of several gene variants (alleles). One -okleotide polymorphism (SNP) as the most common type of polymorphism. C. Recombination (crossingover) as an exchange of genetic material between homologous chromosomes in meiosis. Ensuring genetic diversity. D. Epigenetic modifications as changes in genes expression not related to a change in the DNA sequence (DNA methylation, histone modification). The role of epigenetics in development and health. E. The role of genetic variability in adaptation to changing environmental conditions and evolution.

II. Genetic diseases:

  1. Classification of genetic diseases:
    a. Monogenic diseases as diseases caused by mutation in one gene. Autosomal dominant, autosomal recessive, x-linked dominant and X-linked recessive diseases. Examples: cystic fibrosis, phenylketonuria, hemophilia, Huntington disease. B. Chromosomal diseases as diseases caused by changes in the number or structure of chromosomes. Anneuploidia (trisomies, monosomies). Examples: Down Syndrome (Trisomy 21), Turner Syndrome (Monosomy X). C. Mitochondrial diseases as diseases caused by mutations in mitochondrial DNA. Transmitted only from the mother. D. Multifactorial diseases as diseases caused by the interaction of genetic and environmental factors. Examples: cardiovascular diseases, diabetes, cancer, autoimmune diseases. E. Genomic imprinting diseases as diseases associated with the epigenetic regulation of genes depending on parental origin.

  2. Examples of monogenic diseases and mechanisms of their development:
    a. Cyciscide: mutation in the CFTR gene, violation of the transport of chloride, the formation of thick mucus, damage to the light and digestive system. B. Phenylketonuria: mutation in the PAH gene, a deficiency of the enzyme phenylaneineryxinlase, the accumulation of phenylalanine, damage to the nervous system. C. Hemophilia: mutation in genes encoding blood coagulation factors (VIII or IX), blood coagulation, bleeding. D. Huntington disease: mutation in the HTT gene, an increase in the number of CAG-re-transplants, neurodegeneration. E. Sickle -cell anemia: mutation in the HBB gene, the formation of abnormal hemoglobin, erythrocyte deformation, anemia, vascular occlusion.

  3. Examples of chromosomal diseases and mechanisms of their development:
    a. Down Syndrome (Trisomy 21): the presence of an additional chromosome 21, mental retardation, characteristic features of the face, heart defects. B. Turner syndrome (monosomy x): the absence of one X-chromosome in women, low growth, infertility, heart defects. C. Klainfelter syndrome (XXY): the presence of an additional X-chromosome in men, infertility, feminization. D. Edwards Syndrome (Trisomy 18): the presence of additional chromosome 18, multiple malformations, short life expectancy. E. Patau Syndrome (Trisomy 13): the presence of additional chromosome 13, severe malformations, short life expectancy.

  4. Multifactorial diseases and genetic predisposition:
    a. Cardiovascular diseases: the effect of genetic factors on cholesterol, blood pressure, blood coagulation. The role of SNP in genes associated with the metabolism of lipids and the regulation of vascular tone. B. Diabetes: the effect of genetic factors on the function of the pancreatic beta cells, insulin sensitivity, autoimmune processes. The role of HLA genes in the development of type 1 diabetes. C. Cancer: the effect of genetic factors on cell proliferation, apoptosis, DNA reparation. The role of oncogenes and tumor-soup genes. Examples: BRCA1 and BRCA2 for breast and ovarian cancer. D. Autoimmune diseases: the influence of genetic factors on the function of the immune system, development of autoantibodies. The role of HLA genes in the development of rheumatoid arthritis, systemic red lupus, multiple sclerosis. E. Alzheimer’s disease: the influence of genetic factors on the formation of amyloid plaques and neurofibrillar balls. The role of the APOE gene.

III. Genetic testing and counseling:

  1. Types of genetic testing:
    a. Diagnostic testing: identification of genetic causes of existing diseases. B. Prective testing: assessment of the risk of developing the disease in the future. C. Prenatal testing: diagnosis of genetic diseases in the fetus during pregnancy. D. Screening of newborns: identification of genetic diseases in newborns for the early start of treatment. E. Pharmacogenetic testing: determination of genetic factors affecting the reaction to drugs.

  2. Genetic testing methods:
    a. Cariotal: analysis of the chromosome set. B. Fish (fluorescent hybridization in situ): Identification of specific chromosomal aberrations. C. PCR (polymerase chain reaction): amplification (increase in quantity) of specific DNA fragments. D. DNA sequencing: determining the sequence of nucleotides in DNA. Exom sequencing, genome sequencing. E. DNA microchips (DNA microta): analysis of genes expression, detection of polymorphisms.

  3. The prenatal diagnostics:
    a. Non -invasive methods: ultrasound, biochemical screening of maternal serum, non -invasive prenatal testing (NIPT) based on the analysis of the fetal DNA in the mother’s blood. B. Invasive methods: amniocentesis (an amniotic fluid fence), choriona biopsy (chorion tissue sample fence). The risks of invasive methods. C. Preimplantation genetic diagnostics (PGD): genetic testing of embryos obtained as a result of IVF before implantation into the uterus.

  4. Genetic counseling:
    a. Genetic risk assessment: family history analysis, assessment of the probability of inheritance of a genetic disease. B. Information about genetic diseases: providing information about the causes, symptoms, treatment and prognosis of genetic diseases. C. Discussion of genetic testing options: explanation of the possibilities and restrictions of various types of genetic testing. D. Support and counseling: Assistance in making decisions on genetic testing and further actions in case of genetic diseases. E. Ethical issues of genetic testing: confidentiality, informed consent, discrimination based on genetic information.

IV. Gene therapy:

  1. Principles of genetic therapy:
    a. The introduction of genetic material into the cells of the body for the treatment of diseases. B. Types of genetic therapy: somatic genetic therapy (the introduction of genes into somatic cells, changes are not transmitted to offspring) and herminative gene therapy (the introduction of genes into germ cells, changes are transmitted to offspring). Ethical restrictions on herminative genetic therapy. C. Genes delivery methods: viral vectors (adenoviruses, adenoassia viruses, retroviruses, lendiviruses), non -viral methods (liposomes, electrophy, genetic cannon).

  2. Examples of genetic therapy:
    a. General therapy of spinal muscle atrophy (SMA): the introduction of a functional copy of the SMN1 gene using an adenoassed virus. B. General therapy of hereditary blindness (Leber Congenital AMAROSIS): Introduction of the functional copy of the RPE65 gene using an adenoassed virus. C. Gene therapy of beta-Talassemia: the introduction of modified hematopoietic stem cells with a functional copy of the beta-globin gene. D. Gene therapy of adenosine deaminase (ADA) deficiency of severe combined immunodeficiency (TKKU): the introduction of a functional copy of the ADA gene into hematopoietic stem cells. E. CAR-T cell therapy of cancer: Genetic modification of the patient’s T-lymphocytes for recognition and destruction of cancer cells.

  3. Problems and prospects of genetic therapy:
    a. Immune response to viral vectors. B. The risk of an insertion of the gene into an undesirable place in the genome (incredible mutage). C. High cost of gene therapy. D. Long -term effectiveness of genetic therapy. E. Development of new and safer methods of genes delivery.

V. Pharmacogenetics and personalized medicine:

  1. Principles of pharmacogenetics:
    a. The effect of genetic factors on the body’s reaction to drugs. B. Genetic factors affecting pharmacokinetics (absorption, distribution, metabolism, excretion) and pharmacodynamics (mechanism of action) of drugs. C. The role of enzymes of the metabolism of drugs (cytochromes P450), drug transporters and drug receptors.

  2. Examples of pharmacogenetic interactions:
    a. Varfarin: Genetic variants of CYP2C9 and VKORC1 genes affect the dose of warfarin, necessary to achieve the therapeutic effect. B. Clopidogrel: Genetic variants of the CYP2C19 gene affect the activation of clopidogen and the risk of thrombosis. C. Abakavir: The genetic version of HLA-B*57: 01 is associated with an increased risk of developing hypersensitivity to abakavir. D. Irinothekan: Genetic variants of the UGT1A1 gene affect the metabolism of irinothens and the risk of toxicity. E. Codeine: Genetic variants of the CYP2D6 gene affect the transformation of codeine into morphine and analgesic effect.

  3. Personalized medicine:
    a. The use of genetic information to select the most effective and safe treatment for each patient. B. Integration of genetic data into clinical practice. C. Development of new drugs developed taking into account the genetic characteristics of patients. D. Problems and prospects of personalized medicine: the cost of genetic testing, interpretation of genetic data, ethical issues. E. Big data (Big Data) and machine learning in personalized medicine.

VI. Epigenetics and health:

  1. Mechanisms of epigenetic regulation:
    a. DNA methylation: adding a methyl group to cytosine in DNA. Methyling is usually associated with genes repression. B. Histonian modifications: acetylation, methylation, phosphorization of histones. Histonian modifications affect the structure of chromatin and DNA accessibility for transcription. C. Microrm (Mirna): small non -dodging RNAs that regulate the expression of genes by binding to MRNA and inhibiting broadcasting or causing degradation of MRNA. D. Long non -dodging RNA (LNCRNA): RNA with a length of more than 200 nucleotides that are involved in the regulation of genes expression at various levels.

  2. The role of epigenetics in development and health:
    a. Epigenetic regulation during development: differentiation of cells, the formation of tissues and organs. B. Epigenetic changes caused by environmental factors: diet, stress, toxins. C. The influence of epigenetic changes on the risk of the development of diseases: cancer, cardiovascular diseases, diabetes, neurodegenerative diseases. D. Epigenetic inheritance: transmission of epigenetic changes from parents to offspring. E. Possibilities of epigenetic therapy: the development of drugs that affect epigenetic mechanisms.

VII. Genetics and aging:

  1. Genetic factors affecting life expectancy:
    a. Genes participating in DNA reparations: XRCC1, PARP1. B. Genes involved in the regulation of cellular aging (sensors): P53, P16. C. Genes participating in the regulation of metabolism: insulin/IGF-1 signal path. D. Genes participating in the regulation of inflammation: IL-6, TNF-Alpha. E. Genes participating in antioxidant protection: SOD, CAT.

  2. Theories of aging:
    a. Telomeric theory: shortening of telomeres (protective ends of chromosomes) with each cell division. B. Theory of free radicals: the accumulation of damage caused by free radicals. C. Glycing theory: the accumulation of damage caused by glycing of proteins. D. The theory of inflammation: chronic inflammation as a factor in aging. E. Genetic theory: programmed aging.

  3. Genetic studies of long -livers:
    a. Identification of genes and genetic options associated with longevity. B. The study of epigenetic changes in long -livers. C. Analysis of the microbiots of long -livers. D. Development of strategies for slowing aging based on genetic data. E. The influence of lifestyle (diet, physical activity) on the expression of genes associated with aging.

VIII. Genetics and immunity:

  1. Genetic factors affecting the immune response:
    a. HLA genes (the main complex of histocompatibility): role in recognizing antigens and activating the immune response. B. Genes encoding immunoglobulins (antibodies) and T-cell receptors: Genetic recombination provides a variety of antibodies and T-cell receptors. C. Genes encoding cytokines: regulation of an immune response. D. Genes encoding toll-like receptors (TLR): recognition of pathogens and activation of congenital immunity. E. Genes involved in the regulation of apoptosis of immune cells: maintaining immune tolerance.

  2. Genetic diseases of the immune system:
    a. Severe combined immunodeficiencies (TKKU): genetic defects in the development and functioning of T- and B-lymphocytes. B. Viscott-Oldrich syndrome: mutation in the WASP gene, impaired cytoskeleton of immune cells. C. Chronic granulomatous disease: a mutation in genes encoding the components of Nadphh-oxidase, a violation of the destruction of microorganisms by phagocytes. D. IGA deficiency: the most common primary immunodeficiency, a decrease in the IgA level in blood serum. E. Autoimmune diseases: a genetic predisposition to the development of autoimmune reactions.

  3. Genetics and infectious diseases:
    a. Genetic factors affecting the susceptibility to infections. B. Genetic factors affecting the severity of the course of infectious diseases. C. Examples: genetic variants of the CCR5 gene that affect the susceptibility to HIV infection; Genetic TLR genes affecting the immune response to bacterial and viral infections. D. The evolution of viruses and interaction with the human genome. E. Genetics and vaccines development.

IX. Genetics and mental health:

  1. Genetic factors affecting the risk of developing mental disorders:
    a. Schizophrenia: complex genetic interactions, the role of many genes, including Disc1, NRG1, DTNBP1. B. Bipolar disorder: genetic predisposition, the role of genes involved in the regulation of neurotransmissia (serotonin, dopamine). C. Depression: the interaction of genetic and environmental factors, the role of genes affecting the function of serotonin conveyor (SLC6A4). D. Autism: a high degree of inheritance, the role of many genes, including Shank3, Mecp2. E. Attention deficiency syndrome (HDVG): genetic predisposition, role of genes affecting the function of dopamine and norepinephrine systems.

  2. Neurogenetics:
    a. Genes involved in the development and functioning of the nervous system. B. Genes participating in neurotransmissions. C. Genes participating in synaptic plasticity. D. Genes participating in neurogenesis. E. Genetic options affecting cognitive functions.

  3. Epigenetics and mental health:
    a. Epigenetic changes caused by stress and injuries at an early age. B. The influence of epigenetic changes on the risk of mental disorders. C. The role of epigenetics in the development of resistance to treatment. D. The possibilities of epigenetic therapy of mental disorders. E. The influence of microbiota on mental health through the axis “intestines-mozg”.

X. Final aspects:

  1. Ethical and social aspects of genetic research:
    a. Confidentiality of genetic information. B. Discrimination based on genetic information. C. Informed consent to genetic testing. D. The right to ignorance of genetic information. E. Regulation of genetic technologies.

  2. Future of genetics and health:
    a. Development of genomic technologies. B. Integration of genetic data into a healthcare system. C. Development of new methods of treating genetic diseases. D. Prevention of genetic diseases. E. Improving the quality of life and extending life expectancy.

  3. The role of the public in the development of genetics:
    a. Increased awareness of genetics and health. B. Participation in genetic studies. C. Support for scientific research in the field of genetics. D. Responsible use of genetic information. E. The formation of public opinion on ethical issues of genetics.

Leave a Reply

Your email address will not be published. Required fields are marked *