The role of genetics in health and longevity: complex review
Genetics plays a fundamental role in the formation of our health and determines the potential of longevity. The influence of the genetic code extends on all aspects of our biology, ranging from predisposition to specific diseases and ending with the rate of aging and general resistance to external influences. Understanding these genetic mechanisms opens up new horizons in the prevention, diagnosis and treatment of diseases, and also provides valuable information on how to optimize your lifestyle to achieve maximum expectancy and quality of life.
I. Fundamentals of genetics and health:
A. DNA: Drawing of life:
DNA (deoxyribonucleic acid) is the basis of heredity, a bearer of genetic information that determines the unique characteristics of each individual. The DNA structure is a double spiral consisting of nucleotides, each of which includes a phosphate group, deoxybosis sugar and one of the four nitrogenous bases: adenine (a), tinin (t), cytosine (C) and guanine (G). The sequence of these bases determines the genetic code.
- Genes: Genes are specific areas of DNA containing instructions for protein synthesis. Proteins, in turn, perform a wide range of functions in the body, including catalysis of biochemical reactions, molecules, structural support and signal transmission.
- Chromosomes: DNA is organized in chromosomes that are in the nucleus of each cell. Man is normal for a person 23 pairs of chromosomes, in total 46. One chromosome from each pair is inherited from the mother, and the other from the father.
- Genome: The totality of all DNA in the cage is called a genome. Complete sequencing of the human genome allowed scientists to obtain a map of all genes and other genetic elements.
B. Genetic variability and polymorphisms:
Despite the fact that the human genome is largely the same for all individuals, there are significant differences in the DNA sequence that determine genetic variability. These differences, called genetic polymorphisms, can vary from one -unique polymorphisms (SNP), where only one DNA foundation differs, to larger changes, such as inserts or deletions.
- SNP (Single Nucleotide Polymorphisms): SNP is the most common type of genetic polymorphism. They can affect the expression of genes, the structure of proteins and, therefore, the risk of developing various diseases.
- Copy variations (COPY Number Varis, CNVS): CNV are differences in the number of copies of certain DNA sections. They can affect the expression of genes and, therefore, to the phenotype.
- Phenotype Impact: Genetic polymorphisms can have a different effect on the phenotype, that is, the observed characteristics of the individual. Some polymorphisms may not have any noticeable effect, while others can significantly increase or lower the risk of developing certain diseases.
C. Epigenetics: the influence of the environment on genetics:
Epigenetics refers to changes in genes expression, which are not associated with changes in the DNA sequence. These changes can be caused by various environmental factors, such as diet, lifestyle and the effect of toxins.
- DNA methylation: DNA methylation is the process of adding a methyl group to the cytosine base in DNA. Methyling usually suppresses the expression of genes.
- Modifications of histones: Histons are proteins around which DNA is wrapped. Modifications of histones, such as acetylation and methylation, can affect the availability of DNA for transcription and, therefore, to the expression of genes.
- MIRNORNK (MIRNA): Microrm is short non -dodging RNA that can contact MRNA and suppress genes broadcasts.
- Outability and inheritance: Epigenetic changes can be reversible and can be transmitted from generation to generation, although the degree of inheritance can vary.
II. Genetics and basic diseases:
A. Cardiovascular diseases (SVP):
Genetics plays a significant role in the development of SVD, including coronary heart disease, stroke, hypertension and cardiomyopathy. Many genes were identified as the risk factors of the SSZ.
- Lipid metabolism genes: Genes involved in lipid metabolism, such as APOE, LDLR And PCSK9affect the level of cholesterol in the blood and the risk of atherosclerosis.
- Genes associated with the regulation of blood pressure: Genes involved in the regulation of blood pressure, such as AGT, ACE And ADD1affect the risk of developing hypertension.
- Genes associated with inflammation: Genes involved in inflammatory processes, such as IL-6 And TNF-αaffect the risk of developing atherosclerosis and other SSZs.
- The interaction of genes and the environment: The risk of the development of SVD is determined by the complex interaction between genetic factors and environmental factors, such as diet, smoking and physical activity.
B. Cancer:
Cancer is a genetic disease that occurs as a result of the accumulation of mutations in genes that control the growth and division of cells. Some mutations are inherited, while others arise spontaneously throughout life.
- Tumor Suppressors genes: Tumors-soup genes, such as TP53, Krca1 And BRCA2control the growth and division of cells. Mutations in these genes can lead to uncontrolled cell growth and cancer development.
- Oncogenes: Oncogenes are genes that stimulate cell growth and division. Mutations in these genes can turn them into oncogenes, which leads to uncontrolled cell growth and cancer development.
- DNA reparation genes: Genes involved in DNA reparations, such as MLH1 And MSH2help to correct DNA damage. Mutations in these genes can lead to the accumulation of mutations and the development of cancer.
- Genetic predisposition to cancer: Some people have an increased risk of cancer due to the inheritance of mutations in cancer genes. For example, women with mutations in genes Krca1 And BRCA2 They have a significantly increased risk of breast cancer and ovarian cancer.
C. Diabetes:
Diabetes is a metabolic disease characterized by a high level of glucose in the blood. Genetics plays an important role in the development of both type 1 diabetes and type 2 diabetes.
- Type 1 diabetes: Type 1 diabetes is an autoimmune disease in which the immune system attacks and destroys insulin-producing pancreatic cells. Genes HLA They play an important role in the predisposition to type 1 diabetes.
- Type 2 diabetes: Type 2 diabetes is characterized by insulin resistance and insufficient insulin production. Many genes were identified as type 2 risk factors, including genes involved in insulin secretion, insulin alarm and glucose metabolism.
- The interaction of genes and the environment: The risk of developing diabetes is determined by the complex interaction between genetic factors and environmental factors, such as diet, physical activity and obesity.
D. Neurodegenerative diseases:
Neurodegenerative diseases, such as Alzheimer’s disease, Parkinson’s disease and lateral amyotrophic sclerosis (BAS), are characterized by progressive death of nerve cells. Genetics plays an important role in the development of these diseases.
- Alzheimer’s disease: Gene APOE It is the main genetic factor in the risk of Alzheimer of a late age. Mutations in genes APP, Psen1 And PSEN2 causes Alzheimer’s disease.
- Parkinson’s disease: Mutations in genes LRRK2, Snca And PARK2 Call Parkinson’s disease. Genes GET And MAPT They are also risk factors for Parkinson’s disease.
- Lateral amyotrophic sclerosis (bass): Mutations in genes Sod1, TARDBP And FUS Call the bass. Gene C9orf72 It is the most common genetic factor in the risk of bass.
E. Autoimmune diseases:
Autoimmune diseases, such as rheumatoid arthritis, systemic lupus erythematosus and multiple sclerosis, occur when the immune system attacks the body’s own tissues. Genetics plays an important role in predisposition to these diseases.
- Genes HLA: Genes HLA They play an important role in predisposition to many autoimmune diseases.
- Genes associated with the regulation of the immune system: Genes involved in the regulation of the immune system, such as IL-2, IL-10 And CTLA-4affect the risk of developing autoimmune diseases.
- The interaction of genes and the environment: The risk of developing autoimmune diseases is determined by the complex interaction between genetic factors and environmental factors, such as infections and smoking.
III. Genetics and longevity:
Longevity is a comprehensive sign determined by a combination of genetic factors, environmental factors and lifestyle. Although the exact contribution of genetics to longevity is still studied, studies have shown that genetic factors play a significant role in determining life expectancy.
A. Genes associated with longevity:
Several genes were associated with longevity in various studies. These genes often participate in processes associated with aging, such as DNA reparation, antioxidant protection and metabolism regulation.
- Insulin alarm genes: Genes involved in insulin alarms, such as IGF-1R And Foxo3play an important role in the regulation of life expectancy in various organisms, including a person.
- DNA reparation genes: Genes involved in DNA reparations, such as SIRT1 And WRNhelp maintain the integrity of the genome and protect against damage caused by aging.
- Antioxidant protection genes: Genes participating in antioxidant protection, such as Sod2 And CAThelp protect the cells from damage caused by free radicals.
- Autophaginian genes: Autophagy is a process in which the cells remove damaged organelles and other cell components. Genes participating in autophagy, such as ATG5 And Becn1help maintain cell health and renew life.
B. Family history and longevity:
The presence of long -livers in the family is a strong predictor of longevity. This suggests that genetic factors play an important role in determining life expectancy. Studies of the families of centenarians have shown that they often have certain genetic options that protect against age -related diseases and contribute to longevity.
C. The interaction of genes, the environment and lifestyle:
Longevity is determined by the complex interaction between genetic factors, environmental factors and lifestyle. Even if a person has a genetic predisposition to longevity, an unhealthy lifestyle can significantly reduce life expectancy. On the contrary, a healthy lifestyle can compensate for some genetic shortcomings and contribute to a longer and healthy life.
IV. Genetic testing and healthcare:
Genetic testing is becoming an increasingly common healthcare tool. It can be used to identify a genetic predisposition to various diseases, to diagnose genetic diseases and to develop individual treatment plans.
A. Types of genetic testing:
- Diagnostic testing: Diagnostic testing is used to confirm or exclude the diagnosis of a genetic disease.
- Screening testing: Screening testing is used to identify persons with an increased risk of developing a genetic disease.
- Prenatal testing: Prenatal testing is used to detect genetic diseases in the fetus.
- Predictive testing: Prective testing is used to assess the risk of developing a genetic disease in the future.
- Pharmacogenetic testing: Pharmacogenetic testing is used to determine how a person will respond to certain drugs.
B. Ethical and social issues:
Genetic testing raises a number of ethical and social issues, such as confidentiality, discrimination and accessibility. It is important to consider these issues when using genetic testing in healthcare.
- Confidentiality: The results of genetic testing should be confidential and should not be disclosed to third parties without human consent.
- Discrimination: People should not be discriminated against their genetic results.
- Accessibility: Genetic testing should be available to everyone who needs it, regardless of their economic situation.
V. Prospects for genetics in healthcare and longevity:
Genetics continues to develop rapidly, and in the future it will probably play an even more important role in healthcare and longevity. The development of new technologies, such as CRISPR-CAS9 genomic editing, opens up new opportunities for treating genetic diseases and prolonging life.
A. Genomic editing CRISPR-CAS9:
CRISPR -CAS9 is a powerful genomic editing technology that allows scientists to accurately edit DNA. This technology can be used to correct mutations that cause genetic diseases, and to change genes associated with aging.
B. Individualized medicine:
Individualized medicine is an approach to healthcare, which takes into account the genetic characteristics of each person. Genetic testing can be used to develop individual treatment plans that will be more effective and safe for a particular person.
C. Future research:
Further studies are needed for a better understanding of genetic factors that determine health and longevity. These studies will help develop new strategies for the prevention, diagnosis and treatment of diseases, as well as a strategies for extending life.