Children’s health: the role of heredity from parents

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Children’s health: the role of heredity from parents

I. Foundation of health: Genetic architecture

The child’s health is a complex puzzle in which genetics, transmitted from parents, plays the role of the foundation. This foundation determines the predisposition to certain diseases, metabolic features, physical characteristics and even cognitive abilities. Understanding the role of heredity is the first step to a conscious approach to the health of the offspring.

A. Genom as an instruction:

  1. DNA and chromosomes: The human genome consists of DNA, stored in 23 pairs of chromosomes inherited from each parent. DNA contains genes – instructions for the synthesis of proteins that determine the structure and function of the body.
  2. Genetic variability: Individual differences in DNA, called genetic variability (for example, one -okleotide polymorphisms – SNPS), lead to a variety of signs and predispositions.
  3. Epigenetics: It is important to note that genetics is not a tough program. Epigenetic mechanisms (for example, DNA methylation) may turn on or off the genes, changing their expression depending on external factors (nutrition, the environment). These epigenetic changes can be transmitted to subsequent generations.

B. Types of inheritance:

  1. Autosomal dominant: The disease manifests itself if the child has at least one copy of the defective gene on the autosome (not sexual chromosome). The probability of inheritance is 50%if one of the parents has a disease. Examples: Huntington disease, neurofibromatosis.
  2. Autosomal-recessive: The disease manifests itself only if the child has two copies of a defective gene on an autosome, one from each parent. Parents are usually healthy, but are carriers. The probability of the birth of a sick child is 25%, if both parents are carriers. Examples: cystic fibrosis, phenylketonuria, sickle cell anemia.
  3. Dummarized with the X-chromosome: The disease manifests itself if the child has at least one copy of the defective gene on the X-chromosome. Women with one copy usually get sick more easily than men. The probability of inheritance depends on the gender of the sick parent. Examples: Vitamin D-resistant rickets.
  4. Relapsive: The disease manifests itself in men if they have one copy of the defective gene on the X-chromosome. In women, the disease manifests itself only if they have two copies of a defective gene. Women-carriers are usually healthy. The probability of inheritance depends on the gender of the sick parent. Examples: hemophilia, Dyushenna dystrophy.
  5. Mitochondrial inheritance: Mitochondria (cells of cells) contain their own DNA. Mitochondrial diseases are transmitted only from mother to children.
  6. Multifactorial inheritance: Many common diseases (diabetes, cardiovascular diseases, asthma) are due to a combination of genetic factors and environmental factors. A genetic predisposition increases the risk of developing the disease, but does not guarantee its manifestation.

C. Genetic counseling:

  1. Target: Assessment of the risk of inheritance of genetic diseases, providing information about diagnosis and treatment.
  2. Who needs: Couples planning pregnancy, families with the history of genetic diseases, pairs with infertility or repeated miscarriages, parents of children with congenital anomalies.
  3. Methods: Analysis of family history, genetic tests (for example, carutping, sequencing of the genome).

II. Hereditary diseases: threat spectrum

Hereditary diseases are diseases due to genetic mutations transmitted from parents to children. They can appear at any age and hit various organs and systems.

A. Chromosomal abnormalities:

  1. Down Syndrome (Trisomy 21): The presence of an additional chromosome 21. It is characterized by mental retardation, characteristic features of the face, heart defects.
  2. Edwards syndrome (Trisomy 18): The presence of an additional chromosome 18. It is characterized by severe malformations, a low life expectancy.
  3. Patau’s Syndrome (Trisomy 13): The presence of an additional chromosome 13. It is characterized by severe malformations, a low life expectancy.
  4. Turner syndrome (monosomy x): The absence of one X-chromosome in women. It is characterized by low growth, infertility, heart defects.
  5. Klainfelter syndrome (XXY): The presence of an additional X-chromosome in men. It is characterized by infertility, high growth, gynecomastia.

B. Monogenic diseases:

  1. MukoviScidoz: The disease caused by the mutation of the CFTR gene. It is characterized by damage to the lungs, pancreas, intestines.
  2. Phenylketonuria: The disease caused by the mutation of the PAH gene. It is characterized by a violation of phenylalanine metabolism, leading to mental retardation.
  3. Sickle -cell anemia: The disease caused by the mutation of the hemoglobin gene. It is characterized by deformation of red blood cells leading to anemia, pain, organs damage.
  4. Spinal muscle atrophy (SMA): The disease caused by the mutation of the SMN1 gene. It is characterized by progressive muscle weakness and atrophy.
  5. Duchenna dystrophy: The disease caused by the mutation of the dystrophin gene. It is characterized by progressive muscle weakness and atrophy, damage to the heart.
  6. Hemophilia: The disease caused by a mutation of genes of blood coagulation factors. It is characterized by a violation of blood coagulation leading to bleeding.
  7. Huntington disease: The disease caused by the mutation of the Huntingin gene. It is characterized by progressive engine, cognitive and psychiatric disorders.
  8. Neurofibromatosis: The disease caused by the mutation of the NF1 or NF2 genes. It is characterized by the development of tumors on the nerves.

C. Distribution to multifactorial diseases:

  1. Type 1 diabetes: A genetic predisposition in combination with environmental factors (for example, viral infections) can lead to autoimmune destruction of pancreatic beta cells.
  2. Type 2 diabetes: A genetic predisposition in combination with environmental factors (for example, obesity, inactive lifestyle) can lead to insulin resistance and impaired function of the beta cells of the pancreas.
  3. Cardiovascular diseases: A genetic predisposition to hypertension, hyperlipidemia, atherosclerosis in combination with environmental factors (for example, smoking, unhealthy nutrition) increases the risk of developing myocardial infarction, stroke.
  4. Asthma: A genetic predisposition to allergies, hyperreactivity of the bronchi in combination with environmental factors (for example, allergens, air pollution) increases the risk of asthma.
  5. Cancer: A genetic predisposition to certain types of cancer (for example, breast cancer, colon cancer) in combination with environmental factors (for example, smoking, ultraviolet radiation) increases the risk of cancer.
  6. Autoimmune diseases: A genetic predisposition in combination with environmental factors (for example, infection) can lead to the development of autoimmune diseases (for example, rheumatoid arthritis, systemic lupus erythematosus).

III. Risk factors and prevention:

Although genetics plays an important role, environmental factors and lifestyle also have a significant impact on children’s health. Modification of these factors can reduce the risk of developing diseases, even in the presence of a genetic predisposition.

A. Nutrition:

  1. Mother’s food during pregnancy: A balanced diet with a sufficient amount of folic acid, iron, calcium and vitamin D is necessary for the healthy development of the fetus. The deficiency of nutrients can increase the risk of congenital anomalies and diseases in the future.
  2. Breast-feeding: Breast milk contains antibodies, growth factors and other beneficial substances that strengthen the child’s immune system and reduce the risk of infections, allergies, and obesity.
  3. Feed: The introduction of complementary foods should be timely and balanced. It is important to offer a variety of products rich in vitamins, minerals and fiber.
  4. Avoid processed products: Producted products contain a lot of sugar, salt, fats and few nutrients. Their use is associated with an increased risk of obesity, diabetes, cardiovascular diseases.

B. Life:

  1. Physical activity: Regular physical exercises are important for maintaining a healthy weight, strengthening bones and muscles, improving mood. Children should engage in physical activity at least 60 minutes a day.
  2. Sufficient sleep: The lack of sleep can negatively affect the immune system, cognitive functions, mood. Children need more sleep than adults.
  3. Restriction of the time spent on the screen: The excessive time spent behind the screen (TV, computer, smartphone) is associated with an increased risk of obesity, sleep problems, and attention violation.
  4. Avoid smoking and alcohol: Smoking and drinking alcohol during pregnancy and in childhood are extremely harmful to health. They can increase the risk of congenital abnormalities, developmental delays, cancer.

C. Environment:

  1. Air pollution: Air pollution is associated with an increased risk of development of respiratory diseases, allergies, asthma.
  2. Contact with toxic substances: Contact with toxic substances (for example, lead, pesticides) can negatively affect the development of the brain, nervous system.
  3. Infections: Infections during pregnancy and in childhood can increase the risk of developing certain diseases.
  4. Stress: Chronic stress can negatively affect the immune system, cognitive functions, mood.

D. Medical care:

  1. Vaccination: Vaccination is an effective way to protect against infectious diseases.
  2. Regular medical examinations: Regular medical examinations allow you to identify diseases in the early stages and conduct timely treatment.
  3. Newborns screening: Screening of newborns allows you to identify certain genetic diseases in the early stages, which allows you to begin treatment before the onset of symptoms.
  4. Prenatal screening: Prenatal screening allows you to identify the risk of chromosomal abnormalities and other diseases in the fetus.

IV. Genetic tests: forecasting tools

Genetic testing has become a powerful tool for assessing the risk of diseases, determining the carriage of genetic mutations and planning pregnancy.

A. Types of genetic tests:

  1. Screening of carriage: Determines whether a person is a carrier of a gene associated with a recessive disease.
  2. Diagnostic testing: Confirms or excludes the diagnosis of a genetic disease.
  3. Predictive testing: Assesses the risk of developing the disease in the future.
  4. Prenatal testing: Evals the risk of genetic diseases in the fetus.
  5. Pharmacogenetic testing: Determines how a person will respond to certain drugs.

B. Genetic testing methods:

  1. Cariotipirani: Analysis of chromosomes to detect chromosomal abnormalities.
  2. Fish (fluorescent in situ hybridization): Detection of specific DNA sequences on chromosomes.
  3. PCR (polymerase chain reaction): An increase in the amount of a certain DNA sequence for analysis.
  4. DNA sequencing: Determination of the sequence of nucleotides in DNA.
  5. Microm! Analysis of thousands of genetic markers at the same time.

C. Ethical aspects of genetic testing:

  1. Confidentiality: Ensuring the confidentiality of the results of genetic testing.
  2. Informed consent: Obtaining the patient’s informed consent before genetic testing.
  3. Discrimination: Protection against genetic discrimination (for example, in the field of employment, insurance).
  4. Accessibility: Providing equal access to genetic testing.

V. Prospects: Genetics and the future of children’s health

The development of genetics opens up new opportunities to improve children’s health.

A. Genomic editing:

  1. CRISPR-CAS9: General editing technology, which allows you to accurately change the DNA sequence.
  2. Potential: Treatment of genetic diseases by correcting mutations.
  3. Ethical questions: Safety, efficiency, justice.

B. Personalized medicine:

  1. Individual approach: Development of individual treatment plans based on the genetic profile of the patient.
  2. Pharmacogenomy: The selection of drugs, taking into account the genetic characteristics of the patient.
  3. Prevention: Development of individual strategies for the prevention of diseases based on genetic predisposition.

C. Bioinformatics:

  1. Big data analysis: The use of bioinformatics to analyze large arrays of genetic data.
  2. Identification of new genes and mutations: Identification of new genes and mutations associated with diseases.
  3. Development of new methods of diagnosis and treatment: Creation of new methods of diagnosis and treatment based on genetic data.

D. The importance of further research:

Further research is needed to deepen knowledge about the role of heredity in the health of children, the development of effective methods of diagnosis, treatment and prevention of genetic diseases. It is also important to take into account the ethical, social and legal aspects of the application of genetic technologies.

VI. Mental health and genetics

Genetics plays a role not only in physical health, but also in the mental. A predisposition to certain mental disorders can be inherited.

A. Autistic spectrum disorders (RAS):

  1. Genetic basis: RAS have a high degree of inheritance. Many genes are associated with an increased risk of races development, but the exact mechanism of their interaction is complicated.
  2. Environmental factors: Environmental factors, such as the age of parents, complications of pregnancy, can also play a role.
  3. Diagnostics and intervention: Early diagnosis and intensive therapy can significantly improve the results for children with races.

B. Attention deficit syndrome (HDVG):

  1. Heredity: ADHD also has a strong genetic component. The genes involved in the regulation of dopamine and other neurotransmitters are associated with increased risk.
  2. Risk factors: Premature birth, low birth weight and the effects of toxins in the environment can also contribute to the development of ADHD.
  3. Treatment: Treatment of ADHD usually includes drug therapy, behavioral therapy and educational support.

C. Depression and anxiety disorders:

  1. Genetic predisposition: There is a genetic predisposition to depression and anxious disorders, but specific genes involved in this process remain the subject of research.
  2. Stress events: Stress life events, injuries and adverse conditions in childhood can increase the risk of developing these disorders.
  3. Support and treatment: Psychotherapy, drug treatment and social support are important for children and adolescents with depression and anxious disorders.

D. Schizophrenia:

  1. Genetic risk: Schizophrenia has a high degree of inheritance. Many genes, each of which has a slight effect, are associated with increased risk.
  2. Environmental factors: The impact of viral infections during pregnancy, complications during childbirth and stressful life events can contribute to the development of schizophrenia.
  3. Early intervention: Early detection and treatment of schizophrenia can help improve long -term results.

VII. Genetic factors affecting the development of immunity

The child’s immune system is critical to protect against infections. Genetics plays a key role in determining the effectiveness and adequacy of the immune response.

A. Inborn immunity:

  1. Gene TLR: TOLL-like receptors (TLR) play an important role in the recognition of pathogens. Variations in TLR genes can affect susceptibility to various infections.
  2. Complement genes: The complement system is involved in the destruction of pathogens and the activation of inflammation. The deficiency of complement components can lead to increased susceptibility to infections.
  3. Genes of NK cells: Natural killers (NK cells) play an important role in the fight against viral infections and tumors. Genetic factors can affect the activity and function of NK cells.

B. Acquired immunity:

  1. HLA genes: The main histocompatibility complex (HLA) plays a decisive role in the representation of antigens of T-cells. Variations in HLA genes affect susceptibility to autoimmune diseases and infections.
  2. Immunoglobulin genes: Immunoglobulins (antibodies) are produced by B cells and neutralize pathogens. Genetic factors affect the variety and effectiveness of antibodies.
  3. Tsitokinov genes: Cytokins are signal molecules that regulate the immune response. Variations in the genes of cytokines can affect inflammatory processes and susceptibility to diseases.

C. Primary immunodeficiency:

  1. Genetic mutations: Primary immunodeficiency (PIDs) are caused by genetic mutations that disrupt the function of the immune system.
  2. Variety: There are more than 400 different types of PID, each of which is caused by a mutation in a certain gene.
  3. Symptoms: PID can appear in the form of frequent and severe infections, autoimmune diseases and increased risk of cancer.
  4. Diagnostics and treatment: Early diagnosis and treatment of PID can significantly improve the results for patients. Treatment may include replacement therapy with immunoglobulins, antibiotic therapy and bone marrow transplantation.

D. Allergic diseases:

  1. Genetic predisposition: Allergic diseases, such as asthma, allergic rhinitis and eczema, have a genetic predisposition.
  2. Genes participating in IgE regulation: The genes involved in the regulation of IgE (immunoglobulin E) play an important role in the development of allergic reactions.
  3. Environmental factors: The effects of allergens, such as pollen, mites of homemade dust and food products, can also contribute to the development of allergic diseases.

VIII. Genetics and metabolism

Metabolic processes that provide the body with energy and building blocks are also under genetic control. Hereditary metabolism disorders can lead to serious diseases.

A. Amino acid metabolism disorders:

  1. Phenylketonuria (FCU): The mutation in the PAH gene encoding the enzyme phenylalaininghydroxylase leads to the accumulation of phenylalanine in the blood and damage to the brain.
  2. Maple syrup disease: The deficiency of the enzyme complex, splitting amino acids with an extensive chain (leucine, isolacin, valin), leads to the accumulation of these amino acids and toxic effects on the nervous system.

B. Violations of carbohydrate metabolism:

  1. Galactosemia: The deficiency of the enzymes necessary for the metabolism of galactose leads to the accumulation of galactose in the blood and damage to the liver, kidneys and brain.
  2. Glycogenoses: The deficiency of enzymes involved in the synthesis or splitting of glycogen leads to the accumulation of glycogen in the liver, muscles or other organs.

C. Violations of the metabolism of fatty acids:

  1. Deficiency of Azil-CoA dehydrogenases of medium-chain fatty acids (MCAD): The deficiency of this enzyme prevents the breakdown of medium -length fatty acids, which can lead to hypoglycemia, damage to the liver and sudden death.

D. Mitochondrial diseases:

  1. Mutations in mitochondrial DNA: Mitochondria is organelles that produce energy in cells. Mutations in mitochondrial DNA can lead to violations of energy metabolism and defeat of various organs.
  2. Inheritance: Mitochondrial diseases are transmitted only from mother to child.

E. Newborns screening:

  1. Early detection: Screening of newborns allows you to identify many metabolic diseases in the early stages, before the appearance of symptoms.
  2. Treatment: The early start of treatment, such as a diet with a limitation of certain amino acids or enzyme replacement therapy, can prevent or reduce the severity of the consequences of metabolic disorders.

IX. Genetic factors affecting the development of the skeleton and connective tissue

Genes play an important role in the formation and maintenance of a healthy skeleton and connective tissue. Mutations in these genes can lead to various diseases.

A. Osteogenesis imperfect (he):

  1. Mutations in collagen genes: It is called by mutations in the COL1A1 and COL1A2 genes, which encode type 1 collagen, the main component of bones.
  2. Bones fragility: It is characterized by increased fragility of bones, which leads to frequent fractures.
  3. Various types: There are various types of it, varying in gravity.

B. Achondroplasia:

  1. Mutation in the FGFR3 gene: Achondroplasia is caused by a mutation in the FGFR3 gene, which encodes the receptor of the growth factor of fibroblasts 3.
  2. Dwarf: Achondroplasia is the most common cause of dwarfism with shortened limbs.

C. Marfan syndrome:

  1. Mutation in gene FBN1: Marfan syndrome is caused by a mutation in the FBN1 gene, which encodes fibrillin-1, component of extracellular matrix.
  2. Damage to connective tissue: Marfan syndrome affects the connective tissue, which can lead to problems with the heart, eyes and skeleton.

D. Elers Danlos Syndrome (EMF):

  1. Heterogenic group: EMF is a heterogeneous group of diseases characterized by defects in collagen and other components of connective tissue.
  2. Different genes: Different types of EMFs are caused by mutations in different genes.
  3. Symptoms: EMF can manifest itself in the form of hypermobility of the joints, elasticity of the skin and fragility of tissues.

X. Genetics and kidney disease

Genes also play an important role in the development and renal function. Hereditary kidney diseases can lead to renal failure.

A. Polycystic kidney disease (PPBP):

  1. Mutations in the PKD1 and PKD2 genes: PPBP is called mutations in the PKD1 and PKD2 genes, which encode proteins involved in the regulation of kidney development.
  2. Cyst education: PPBP is characterized by the formation of multiple cysts in the kidneys, which leads to an increase in the kidneys and impaired their function.
  3. Types of PPBP: There are autosomal dominant (ADPPBP) and autosomal-recessive (arppbP) Types of PPBP.

B. Alport syndrome:

  1. Mutations in the genes of collagen IV type: Alport syndrome is caused by mutations in genes encoding the type IV collagen, the main component of the basement membrane of the kidneys.
  2. Damage to the kidneys, hearing and vision: Alport syndrome affects the kidneys, causing glomerulonephritis, and can also lead to hearing loss and vision problems.

C. Nephrotic syndrome:

  1. Genetic reasons: Some forms of nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS), can be caused by genetic mutations.
  2. Mutations in the genes of podocytes: Mutations in genes encoding podocyte proteins (cells forming a filter barrier of glomeruli) can lead to proteinuria (the release of protein in urine) and the development of nephrotic syndrome.

D. Congenital kidney and urinary tract abnormalities (Cakut):

  1. Genetic factors: Cakut is a wide range of anomalies of kidney development and urinary tract, which can be caused by genetic factors.
  2. Various anomalies: CAKUT may include kidney Agenesia (lack of kidney), kidney dysplasia (abnormal development of the kidney), hydronephrosis (expansion of the renal pelvis) and bubble reflux (reverse urine casting from the bladder to the ureters).

XI. Genetics and cancer in childhood

Although most cases of cancer in childhood are not hereditary, genetic factors can play a role in predisposition to certain types of cancer.

A. Retinoblastoma:

  1. Mutation in gene RB1: Retinoblastoma is caused by mutations in the RB1 gene, which encodes tumor-growth protein-spressor.
  2. Hereditary and non -investigative forms: There are hereditary and non -investigative forms of retinoblastoma. The hereditary form is associated with the mutation in the RB1 gene, which is present in all cells of the body, which increases the risk of retinoblastoma in both eyes.

B. Neuroblastoma:

  1. Genetic factors: Neuroblastoma is a malignant tumor arising from nerve cells. Genetic factors, such as mutations in Mycn and Alk genes, can play a role in the development of neuroblastoma.
  2. Genetic predisposition: In some cases, neuroblastoma may be associated with a hereditary predisposition.

C. Leukemia:

  1. Chromosomal abnormalities: Some types of leukemia, such as acute lymphoblastic leukemia (Oll), can be associated with chromosomal anomalies, such as translocations.
  2. Genetic mutations: Genetic mutations, such as mutations in the TP53 and Runx1 genes, can also play a role in the development of leukemia.

D. Brain tumors:

  1. Genetic syndromes: Some genetic syndromes, such as type 1 neurofibromatosis and li-phranei syndrome, are associated with an increased risk of developing brain tumors.
  2. Mutations in tumor-sulfuric growth genes: Mutations in tumor growth genes such as TP53 and PTEN can also play a role in the development of brain tumors.

E. Li-Fraumeni syndrome:

  1. Mutation in the TP53 gene: Li-frane syndrome is caused by a mutation in the TP53 gene, which encodes tumor-growth protein spress.
  2. Increased risk of cancer development: Li-franean syndrome is associated with an increased risk of developing various types of cancer, including breast cancer, sarcoma, leukemia and brain tumors.

XII. The role of genetics in reproductive health and family planning

Genetic factors play an important role in reproductive health of both men and women, as well as family planning.

A. Infertility:

  1. Genetic causes in men: Genetic causes of male infertility may include chromosomal abnormalities, such as Cleinfelter syndrome (XXY), mutations in the CFTR gene (cystic fibrosis) and delete Y chromosomes.
  2. Genetic causes in women: The genetic causes of female infertility may include Turner syndrome (monosomy X), mutations in the genes involved in the development of the ovaries, and premature exhaustion of ovaries.

B. Repeated miscarriages:

  1. Chromosomal abnormalities: Chromosomal abnormalities in the embryo are a common cause of repeated miscarriages.
  2. Parents of genetic factors: Parents, such as balanced translocations, can increase the risk of a child with chromosomal anomaly.

C. Preimplantation genetic diagnostics (PGD):

  1. Identification of genetic anomalies: PGD ​​is a procedure that is carried out during IVF and allows you to identify genetic anomalies in embryos before implantation in the uterus.
  2. Indications for PGD: PGD ​​can be recommended to couples with a high risk of birth of a child with a genetic disease, such as the carriage of a recessive gene, a balanced translocation or anamnesis of repeating miscarriages.

D. Prenatal screening:

  1. The risk assessment of genetic abnormalities in the fetus: Prenatal screening includes various tests that allow you to evaluate the risk of genetic anomalies in the fetus, such as Down syndrome, Edwards syndrome and Patau syndrome.
  2. Types of prenatal screening: The types of prenatal screening include ultrasound, biochemical screening and non -invasive prenatal test (NIPT).

XIII. Ethical and social aspects of genetics

The development of genetic technologies raises important ethical and social issues that must be taken into account.

A. Genetic testing:

  1. Informed consent: It is important that patients receive complete and understandable information about the genetic test, its goals, advantages, risks and restrictions before giving consent to its implementation.
  2. Confidentiality: The results of genetic testing should be confidential and

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