Hereditary predisposition: what diseases should be careful

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Hereditary predisposition: what diseases should be careful

Section 1: Fundamentals of genetic predisposition and inheritance

  1. What is a genetic predisposition? A genetic predisposition, or hereditary predisposition, is an increased probability of developing a certain disease in a person due to the presence of certain genetic variants or mutations inherited from his parents in his genome. It is important to understand that a genetic predisposition does not mean that a person will necessarily get sick. This is only a risk factor that increases the likelihood of developing the disease, especially in combination with other factors, such as a way of life, the environment and age.

  2. Genes, chromosomes and DNA: Brief review. To understand the genetic predisposition, it is necessary to know the basic principles of genetics. DNA (deoxyribonucleic acid) is a molecule containing genetic information. It consists of four nucleotide bases: adenina (A), Timin (t), cytosine (C) and guanine (G). The sequence of these bases determines the genetic code. Genes are DNA areas encoding certain proteins or functional RNA. Chromosomes are structures consisting of DNA and proteins in which genes are organized. A person has 23 pairs of chromosomes inherited from each parent.

  3. Types of inheritance: autosomal dominant, autosomal recessive, x-linked. There are several types of inheritance of genetic diseases:

    • Autosomal dominant inheritance: One copy of the mutant gene is enough for a person to manifest the disease. If one of the parents has an autosomal dominant disease, the probability of his transfer to the child is 50%. An example is the disease of gelatington.
    • Autosomal recessive inheritance: Two copies of the mutant gene (one from each parent) are needed so that a person has a disease. People with one copy of the mutant gene are carriers, but do not get sick. If both parents are carriers, the probability of the birth of a child with a disease is 25%. An example is cystic fibrosis.
    • X-linked inheritance: The genes that determine the disease are on the X chromosome. In men (XY), one copy of the mutant gene on the X chromosome is enough to manifest the disease. In women (XX), two copies of the mutant gene are needed. Women with one copy of the mutant gene are carriers and can pass it on to their children. An example is hemophilia.
    • Mitochondrial inheritance: Mitochondria, organelles producing energy in cells also have their own DNA. Mitochondrial diseases are transmitted only from mother to children.

  4. Mutations: Methods of occurrence and consequences. Mutations are changes in the DNA sequence. They can occur spontaneously or under the influence of external factors, such as radiation or chemicals. Mutations can be harmful, useful or neutral. Harmful mutations can lead to genetic diseases. There are various types of mutations:

    • Particular mutations: Change of one nucleotide in the sequence of DNA.
    • Inserts: Adding one or more nucleotides to the DNA sequence.
    • Deletions: Removal of one or more nucleotides from a DNA sequence.
    • Inversions: Turning the DNA site.
    • Translocations: Transfer of a DNA site from one chromosome to another.

  5. Polygen and multifactorial diseases: the role of genes and the environment. Many common diseases, such as cardiovascular diseases, diabetes and cancer, are polygenic and multifactor. This means that they are due to the interaction of several genes and environmental factors. A genetic predisposition can increase the likelihood of developing these diseases, but the way of life, diet and the effect of toxins also play an important role.

Section 2: Diseases to which there is a hereditary predisposition

  1. Cardiovascular diseases:

    • Corny heart (coronary heart disease): The IBS family history is a significant risk factor. Genes involved in the regulation of cholesterol, blood pressure and blood coagulation can affect the risk of IBS. For example, gene options LDLRencoding receptor of low density lipoproteins (LDL), are associated with an increased level of LDL cholesterol and increased IBS risk.
    • Myocardial infarction (heart attack): The hereditary predisposition to coronary heart disease also increases the risk of myocardial infarction. In addition, there are genetic factors that affect blood coagulation, which can contribute to the development of blood clots leading to heart attack.
    • Stroke: Some genetic diseases, such as Factory Disease and Marfan syndrome, can increase the risk of stroke. In addition, there are genetic options that affect blood coagulation and vascular function that can increase the risk of stroke.
    • Hypertension (high blood pressure): Hypertension often has a family character. Many genes participate in the regulation of blood pressure, and the variants of these genes can affect the risk of hypertension.
    • Cardiomyopathy: This disease of the heart muscle can be caused by various genetic mutations. There are various types of cardiomyopathy, such as hypertrophic cardiomyopathy (GKMP) and dilatation cardiomyopathy (DCMP), which have different genetic causes.
    • Arrhythmias: Some types of arrhythmias, such as the elongated QT interval syndrome and Brugad syndrome, have a genetic basis. These syndromes can lead to sudden heart death.
    • Atherosclerosis: Although atherosclerosis is largely associated with a way of life, genetic factors play a role in predisposition to it. Genes affecting lipid metabolism and inflammation can contribute to the development of atherosclerosis.

  2. Oncological diseases:

    • Breast cancer: Mutations in genes Krca1 And BRCA2 Significantly increase the risk of breast cancer and ovarian cancer. Other genes such as TP53, PTEN And ATMare also associated with an increased risk of breast cancer.
    • Ovary cancer: Mutations in genes Krca1 And BRCA2 Also increase the risk of ovarian cancer.
    • Tolstoy cancer (colorectal cancer): Lynch syndrome (hereditary non -fluid colorectal cancer) is caused by mutations in genes involved in DNA reparation, such as Mlh1, MSH2, MoH6 And PMS2. Family adenomatous polyposis (SAP) is caused by a mutation in the gene APC.
    • Prostate cancer: Family history of prostate cancer increases the risk of developing this disease. Some genes such as HPC1 And Rnaselassociated with an increased risk of prostate cancer.
    • Lung cancer: Although smoking is the main risk factor for lung cancer, genetic factors also play a role. Some genes involved in the metabolism of carcinogens and DNA reparations can affect the risk of lung cancer.
    • Melanoma (skin cancer): The family history of melanoma increases the risk of developing this disease. Some genes such as CDKN2a And MC1Rassociated with the increased risk of melanoma.
    • Leukemia (blood cancer): Some types of leukemia, such as acute myeloid leukemia (OML) and chronic lympholecosis (HLL), have a genetic predisposition.

  3. Endocrine diseases:

    • Type 1 diabetes (sd1): SD1 is an autoimmune disease in which the immune system attacks the pancreatic cells that produce insulin. Genes HLA (the main complex of histocompatibility) play an important role in the predisposition to SD1.
    • Type 2 diabetes (SD2): SD2 is a polygenic disease in which the body cannot effectively use insulin. Many genes participate in the regulation of blood glucose levels, and these genes can affect the risk of developing SD2.
    • Thyroid diseases: Autoimmune thyroid diseases, such as Hashimoto’s disease (autoimmune thyroiditis) and Graves disease (diffuse toxic goiter), have a genetic predisposition. Genes HLA Also associated with these diseases.
    • Polycystic ovary syndrome (PCU): SPCA is a common endocrine disorder in women, which is characterized by irregular menstruation, hyperandrogenia (excess male hormones) and polycystic ovary. Pska has a genetic predisposition.

  4. Neurological diseases:

    • Alzheimer’s disease: There are two forms of Alzheimer’s disease: early and late. The early form of Alzheimer’s disease is often caused by mutations in genes APP, Psen1 And PSEN2. The late form of Alzheimer’s disease has a more complex genetic basis, but the gene APOE (apolipoprotein E) is an important risk factor.
    • Parkinson’s disease: Some cases of Parkinson’s disease are caused by mutations in genes Snca, LRRK2 And PARK2.
    • Scattered sclerosis (RS): RS is an autoimmune disease that affects the brain and spinal cord. Genes HLA They play an important role in the predisposition to RS.
    • Epilepsy: Some forms of epilepsy have a genetic basis. Mutations in genes encoding ion canals and neurotransmitters can lead to epilepsy.
    • Migraine: Migraine often has a family character. Some genes involved in the regulation of vascular tone and neurotransmissia can affect the risk of migraine.
    • Gentington disease: This is an autosomal dominant disease caused by a mutation in the gene HTT. The mutation leads to the progressive degeneration of nerve cells in the brain.

  5. Mental illness:

    • Schizophrenia: Schizophrenia is a complex mental disorder, which is characterized by hallucinations, delirium and disorganized thinking. Schizophrenia has a genetic predisposition. Many genes involved in the development of the brain and neurotransmissions can affect the risk of schizophrenia.
    • Bipolar disorder: Bipolar disorder is characterized by mood swings, from manic to depressive episodes. Bipolar disorder has a genetic predisposition.
    • Depression: Depression is a common mental disorder, which is characterized by a feeling of sadness, loss of interest and fatigue. Depression has a genetic predisposition.
    • Alarm disorders: An alarming disorders, such as generalized anxiety disorder (GRT), panic disorder and obsessive-compulsive disorder (OCD), have a genetic predisposition.
    • Autism: Autism is a development disorder, which is characterized by difficulties in social interaction, communication and repeating behavior. Autism has a genetic predisposition.

  6. Diseases of the musculoskeletal system:

    • Osteoarthritis: Osteoarthritis is a degenerative joint disease, which is characterized by the destruction of cartilage. Osteoarthritis has a genetic predisposition.
    • Osteoporosis: Osteoporosis is a disease in which bones become weak and brittle. Osteoporosis has a genetic predisposition.
    • Rheumatoid arthritis: Rheumatoid arthritis is an autoimmune disease that affects the joints. Rheumatoid arthritis has a genetic predisposition. Genes HLA They play an important role in predisposition to rheumatoid arthritis.
    • Scoliosis: Scoliosis is a curvature of the spine. Some forms of scoliosis have a genetic basis.

  7. DISECTION DISEASES:

    • Celiac disease (glutenic enteropathy): Celiac disease is an autoimmune disease in which the immune system responds to gluten, protein contained in wheat, rye and barley. Celiac disease has a genetic predisposition. Genes HLA They play an important role in predisposition to celiac disease.
    • Inflammatory diseases of the intestine (BCC): ZAK, such as Crohn’s disease and ulcerative colitis, are chronic inflammatory intestinal diseases. IPC have a genetic predisposition.
    • Irritable intestine syndrome (SRK): SRK is a common functional intestinal disorder, which is characterized by abdominal pain, bloating and a change in the frequency and consistency of the chair. SRK has a genetic predisposition.

  8. Diseases of the urinary system:

    • Polycystic kidney: This is a genetic disease in which numerous cysts form in the kidneys. There are two main forms of polycystic kidney polycystic: autosomal-dominant polycystic kidney (ADPP) and autosomal recessive polycystic kidney (Arpp). ADPP is caused by mutations in genes PKD1 And PKD2. ARPP is caused by a mutation in the gene PHKHD1.
    • Uroline disease: Urolithiasis can have a genetic predisposition, especially if stones consist of a certain type, for example, of calcium oxalate.

  9. Respiratory system diseases:

    • MukoviScidoz: This is an autosomal recessive disease caused by a mutation in the gene CFTR. The mutation leads to the formation of thick mucus, which affects the lungs, pancreas and other organs.
    • Asthma: Astma is a chronic inflammatory disease of the respiratory tract. Astma has a genetic predisposition. Many genes involved in the immune response and inflammation can affect the risk of asthma.
    • Chronic obstructive lung disease (COPD): Although smoking is the main risk factor for COPD, genetic factors also play a role. Alpha-1-antitripsin deficiency is a genetic disease that increases the risk of COPD.

  10. Allergic diseases:

    • Allergic rhinitis (hay fever): Allergic rhinitis is an inflammation of the nasal mucosa caused by allergens, such as plant pollen, domestic dust ticks and animal hair. Allergic rhinitis has a genetic predisposition.
    • Atopic dermatitis (eczema): Atopic dermatitis is a chronic inflammatory skin disease. Atopic dermatitis has a genetic predisposition.
    • Food allergies: Food allergies are an allergic reaction to certain foods. Food allergies can have a genetic predisposition.

Section 3: Assessment of a genetic predisposition and prevention methods

  1. Collection of family history: key information and what to look. A detailed family history is the first step in assessing a genetic predisposition. It is important to collect information about diseases that your parents, grandparents, brothers and sisters, as well as other close relatives suffered. Pay attention to:

    • The age at which relatives were diagnosed with diseases.
    • Types of diseases that relatives suffered.
    • The connection between diseases (for example, if several relatives had breast cancer or ovarian cancer).
    • Racial or ethnicity (some diseases are more common in certain ethnic groups).
    • Information about the causes of the death of relatives.

  2. Genetic testing: types of tests, testimonies and interpretation of results. Genetic testing can help determine the presence of certain genetic options or mutations that increase the risk of developing certain diseases. There are different types of genetic tests:

    • Narrow testing: Determines whether you are a carrier of a mutation that can be transferred to your children. This type of testing is often used to identify carriers of autosomal recessive diseases, such as cystic fibrosis and sickle cell anemia.
    • Prenatal testing: It is carried out during pregnancy to assess the risk of genetic diseases in the fetus.
    • Preimplantation genetic diagnostics (PGD): It is carried out before the embryo implantation during extracurporeal fertilization (IVF) to detect genetic diseases.
    • Diagnostic testing: It is carried out to confirm the diagnosis of a genetic disease in a person with symptoms.
    • Predictive testing: It is carried out to assess the risk of developing the disease in the future in a person without symptoms. This type of testing is often used to identify people with an increased risk of developing breast cancer, Alzheimer’s disease and hydrofoil disease.
    • Pharmacogenetic testing: It is carried out to determine how a person will respond to certain drugs.

    The interpretation of the results of genetic testing should be carried out by a qualified geneticist who can explain the meaning of the results and give recommendations on further management.

  3. Genetics consultation: when to contact and what to expect. The consultation of a geneticist may be useful in the following cases:

    • You have a family history of genetic diseases.
    • You plan pregnancy and want to assess the risk of transmitting genetic diseases to your child.
    • You have symptoms that may indicate a genetic disease.
    • You want to know more about genetic testing and its meaning.
    • You got the results of genetic testing and want to discuss them.

    During the consultation, a geneticist will collect a detailed family history, discuss your risks and possibilities of genetic testing, and will also give recommendations for prevention and treatment.

  4. Change in lifestyle: diet, physical activity, rejection of bad habits. Even in the presence of a genetic predisposition, a change in lifestyle can significantly reduce the risk of developing many diseases.

    • Diet: Healthy diet, rich in fruits, vegetables, whole grain products and low-fat protein, can help reduce the risk of developing cardiovascular diseases, diabetes, cancer and other diseases. Limit the consumption of saturated and trans fats, added sugar and salt.
    • Physical activity: Regular physical activity can help reduce the risk of developing cardiovascular diseases, diabetes, cancer, osteoporosis and other diseases. At least 150 minutes of moderate aerobic activity or 75 minutes of intensive aerobic activity per week are recommended.
    • Refusal of smoking: Smoking is the main risk factor for many diseases, including lung cancer, cardiovascular diseases and COPD. Refusal of smoking is one of the most important steps that you can take to improve your health.
    • Alcohol consumption restriction: Excessive alcohol consumption can increase the risk of developing cardiovascular diseases, cancer, liver diseases and other diseases.
    • Maintaining a healthy weight: Obesity increases the risk of developing cardiovascular diseases, diabetes, cancer and other diseases. Maintaining a healthy weight can help reduce the risk of these diseases.
    • Dream: A sufficient dream is important for health and can help reduce the risk of developing many diseases. It is recommended to sleep 7-8 hours at night.
    • Stress management: Chronic stress can increase the risk of developing many diseases. Learn to manage stress using methods such as meditation, yoga or tai-chi.

  5. Regular medical examinations and screening: early detection and treatment. Regular medical examinations and screening can help identify diseases at an early stage when they are most treated. Types of screening that you need will depend on your age, gender, family history and other risk factors. Some examples of screening tests include:

    • Mammography: Breast cancer screening.
    • Colonoscopy: Screening for colon cancer.
    • PSA (prostatic specific antigen): Screening for prostate cancer.
    • PAP test: Screening for cervical cancer.
    • Measurement of blood pressure: Hypertension screening.
    • Cholesterol level measurement: Screening for increased cholesterol.
    • Blood test for glucose: Screening for diabetes.
    • Dencitometry: Screening for osteoporosis.

  6. Preventive drugs and vaccination: when they are necessary. In some cases, preventive drugs or vaccination to reduce the risk of developing certain diseases can be recommended. For example:

    • Statin: Medicines that reduce cholesterol and reduce the risk of developing cardiovascular diseases.
    • Aspirin: It can be recommended to reduce the risk of cardiovascular diseases in people with high risk.
    • Vaccination against the human papilloma virus (HPV): Reduces the risk of developing cervical cancer, cancer of the anal canal and other types of cancer.
    • Hepatitis B vaccination: Reduces the risk of developing liver cancer.
    • Mastectomy and ovariectomy: In some cases, women with a high risk of developing breast cancer and ovarian cancer can be recommended by preventive mastectomy (breast removal) and/or ovariectomy (ovarian removal).

  7. The role of psychosocial support: overcoming anxiety and fear. Knowledge of its genetic predisposition to a particular disease can cause anxiety and fear. It is important to seek psychosocial support if you experience these feelings. A psychotherapist or consultant can help you cope with anxiety, fear and other emotional problems.

Section 4: Prospects for the development of genetics and personalized medicine

  1. Genomic sequencing: a complete picture of genetic risk. Genomic sequencing is a process of determining the complete sequence of human DNA. This allows you to identify all genetic options that can affect the risk of developing diseases. Genomic sequencing is becoming more accessible and can become an important tool for assessing genetic risk and developing personalized prevention and treatment plans.

  2. Personalized medicine: an approach based on genetic information. Personalized medicine is an approach to treatment that takes into account genetic information, lifestyle and human environment to develop the most effective and safe treatment plan. Genetic information can be used to select drugs that will most likely be effective, and to identify people with a high risk of developing side effects.

  3. Gene therapy: potential for the treatment of genetic diseases. Gene therapy is a treatment method that includes the introduction of genes into human cells to treat or prevent diseases. Gene therapy can be used to replace a defective gene with a functional genome for the inactivation of a defective gene or to introduce a gene that encodes the therapeutic protein. Gene therapy has great potential for the treatment of genetic diseases, which are currently incurable.

  4. Genes editing (CRISPR): new opportunities and ethical issues. CRISPR-CAS9 is a genes editing technology that allows scientists to accurately and effectively change the DNA sequence. CRISPR-CAS9 has a great potential for the treatment of genetic diseases, but also raises ethical issues related to the possibility of changing the human genome.

  5. The future of genetic diagnosis and prevention. In the future, genetic diagnostics and prevention will become even more accurate, affordable and personalized. Genomic sequencing will become more common, and genetic information will be used to develop personalized prevention and treatment plans for everyone. General therapy and editing of genes will be used to treat genetic diseases that are currently incurable. These achievements in genetics and personalized medicine can significantly improve the health and life expectancy of people.

Section 5: Important resources and additional information

  1. Leading medical centers and genetic clinics. Indicate the list of leading medical centers and genetic clinics in your region or country that specialize in genetic diagnosis and counseling.

  2. National and international organizations for genetic diseases. Give links to websites of national and international organizations that provide information and support to people with genetic diseases and their families.

  3. Online resources and databases on genetics and diseases. List online resources and databases that contain information about genetics, genetic diseases and genetic testing. Examples include:

    • OMIM (Online Mendelian Inheritance in Man): Database containing information about genes and genetic diseases.
    • GeneReviews: Database containing expert reviews of genetic diseases.
    • National Human Genome Research Institute (NHGRI): Web site containing information about genetics and genomic studies.
    • Genetic and Rare Diseases Information Center (GARD): Web site providing information about genetic and rare diseases.

  4. Books and articles for further study. Offer a list of books and articles that can be useful for those who want to learn more about genetic predisposition and genetics.

  5. Community support: Patient groups and online forums. Provide information about patient groups and online forums, where people with genetic diseases and their families can communicate with each other, exchange information and receive support.

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