Genetics and heart health: how to protect yourself
Section 1: Fundamentals of genetics and cardiovascular diseases
Cardiovascular diseases (SVD) are a leading cause of mortality around the world. And although lifestyle factors, such as diet, physical activity and smoking, play a significant role, genetics has a significant impact on a person’s predisposition to the development of these diseases. Understanding the role of genetics in the CVD is the first step to the conscious management of their health and reducing risks.
1.1 What is genetics?
Genetics is a science that studies the heredity and variability of living organisms. Genes located on chromosomes contain instructions for constructing and functioning of the body. Each gene has many options called alleles. The combination of alleles received from parents determines the unique human genotype. The genotype affects the phenotype – observed signs of the body, including a predisposition to disease.
1.2 The role of genes in the development of cardiovascular diseases
Genes are involved in many processes affecting the health of the heart and blood vessels, including:
- Cholesterol level regulation: Genes control the synthesis, metabolism and transport of cholesterol, which plays a key role in the development of atherosclerosis.
- Regulation of blood pressure: Genes affect the activity of a renin-angiotensin-aldosterone system that determines the level of blood pressure.
- Formation and function of blood vessels: Genes participate in the construction of the walls of blood vessels, the regulation of their tone and the ability to expand and narrow.
- Blood coagulation: Genes affect blood coagulation factors, determining the risk of blood clots.
- Inflammation: Genes control inflammatory processes in the vessels that contribute to the development of atherosclerosis.
- Glucose metabolism: Genes affect sensitivity to insulin and glucose metabolism, which is associated with the risk of developing diabetes, which is an important risk factor in the SSZ.
1.3 polygenic and monogenic cardiovascular diseases
SSZ can be divided into two main categories depending on genetic conditioning:
- Polygenic diseases: This is the most common type of CVD in which the development of the disease is determined by a combination of many genes, each of which makes a small contribution. Examples are coronary heart disease (coronary heart disease), arterial hypertension and atherosclerosis. The influence of each individual gene on the risk of developing polygenic disease is small, but their joint action can significantly increase predisposition.
- Monogenic diseases: These are rare diseases caused by mutation in one gene. They usually have a more pronounced phenotype and an earlier beginning. Examples are family hypercholesterolemia, marfan syndrome and cardiomyopathy. Mutations in one gene have a significant effect on the function of the body, which leads to the development of the disease.
1.4 Family history and genetic risk assessment
Family history is an important tool for evaluating the genetic risk of CVD development. The presence of relatives of the first degree of kinship (parents, brothers, sisters) with the early beginning of the SVA (for example, IBS up to 55 years old in men and up to 65 years old) significantly increases the risk of developing these diseases. A detailed family history, including information about the age of the SVD in relatives, types of diseases and risk factors, allows the doctor to evaluate individual genetic risk and develop a strategy for prevention and treatment.
Section 2: Genes associated with specific cardiovascular diseases
The identification of genes associated with the increased risk of SVD is an important step in developing new methods of diagnosis, prevention and treatment.
2.1 Genes associated with atherosclerosis and coronary heart disease (IBS)
Atherosclerosis is the process of formation of atherosclerotic plaques in the walls of arteries, leading to narrowing of the lumen of blood vessels and limiting blood flow. IBS develops when atherosclerotic plaques in the coronary arteries limit the blood supply to the heart muscle.
- Genes affecting cholesterol levels:
- LDLR (low density lipoprotein receptor gene): mutations in this generate family hypercholesterolemia characterized by high levels of LDL cholesterol (“poor” cholesterol) and an increased risk of early development of coronary heart disease.
- APOB (Apopolipoprotein gene): Mutations in this gene can also cause family hypercholesterolemia.
- PCSK9 (Proprotein converting gene of subpland/cexin type 9): This gene encodes a protein that regulates the number of LDL receptors on the surface of the liver cells. PCSK9 inhibitors are a new class of drugs that reduce LDL cholesterol.
- LPA (Gene of Lipoprotein (A)): a high level of lipoprotein (A) is associated with an increased risk of developing atherosclerosis and coronary heart disease.
- Genes affecting inflammation:
- IL6 (Interlayykina-6 gene): Interleukin-6-pro-inflammatory cytokine, playing a role in the development of atherosclerosis.
- TNF (gene factor for tumor necrosis): The tumor necrosis factor is another pro -inflammatory cytokine involved in the development of atherosclerosis.
- Genes affecting blood coagulation:
- F5 (Factor V): The mutation of factor V Leiden increases the risk of thrombosis.
- F2 (Protrombin gene): Protrombin mutation also increases the risk of thrombosis.
2.2 genes associated with arterial hypertension
Arterial hypertension is a chronic increase in blood pressure, which increases the risk of IBS, stroke, heart failure and renal failure.
- Genes affecting the renin-angiotensin-aldosterone system (RAS):
- ACE (Gene Angiotensin-Branding Enzymes): This enzyme is involved in the formation of angiotensin II, which increases blood pressure.
- AGT (Angiotensinogen gene): angiotensinogen is the predecessor of angiotensin II.
- Nr3c2 (Mineralocorticoid receptor gene): A mineralocorticoid receptor binds an aldosterone, which regulates the level of sodium and potassium in the body, affecting blood pressure.
- Genes affecting the tone of blood vessels:
- Nos3 (Azot oxide endothelial syntase): nitrogen oxide relaxes blood vessels and reduces blood pressure.
2.3 Genes associated with cardiomyopathy
Cardiomyopathy is a group of diseases that affect the heart muscle. They can lead to heart failure, arrhythmias and sudden heart death.
- Genes encoding sarcomer proteins:
- Myh7 (gene gene gene): mutations in this gene are the most common cause of hypertrophic cardiomyopathy.
- MYBPC3 (Protein C gene, connecting myosin): mutations in this gene are also a common cause of hypertrophic cardiomyopathy.
- TPM1 (tropomiosin gene 1): mutations in this can cause both hypertrophic and dilatation cardiomyopathy.
- Genes encoding cytoskeleton proteins:
- Lmnana (A/C Lamina gene: mutations in this gene can cause dilatation cardiomyopathy and other diseases.
- OF THE (Gene of Desmina): Mutations in this gene can cause arrhythmogenic cardiomyopathy of the right ventricle.
2.4 Genes associated with congenital heart defects
Congenital heart defects are structural anomalies of the heart that occur during intrauterine development.
- Nkx2-5 (NK2 Home -General General 5): mutations in this are related to various congenital heart defects, including a defect in the atrial partition and the phallo notebook.
- Gata4 (Gata binding gene 4): mutations in this gene are also associated with various congenital heart defects.
- Tbx5 (T-Box 5): mutations in this gene cause Holta-orama syndrome, which is characterized by defects in the upper extremities and congenital heart defects.
Section 3: Genetic testing in cardiology
Genetic testing is becoming an increasingly important tool in cardiology. It can help in the diagnosis of hereditary SPZ, assessing the risk of developing diseases and the development of individual prevention and treatment strategies.
3.1 types of genetic tests
There are several types of genetic tests used in cardiology:
- Sequencing of individual genes: This type of testing is used to identify mutations in a particular gene, known as the cause of the disease. For example, genus sequencing LDLR Used to diagnose family hypercholesterolemia.
- Genes panels: This type of testing analyzes several genes associated with a specific disease or a group of diseases. For example, there are genes to diagnose cardiomyopathy, arrhythmias and congenital heart defects.
- Sequencing of the entire exom: This type of testing analyzes all the encoding areas of the genome (ecz), which make up about 1% of the genome. Sequencing of the entire exom can be useful for identifying rare genetic causes of the SVD.
- Sequencing of the entire genome: This type of testing analyzes the entire genome, including coding and non -dodging areas. Sequencing of the entire genome provides the most complete genetic information, but is more expensive and difficult to interpret than other types of testing.
- Polygenic risk scales (PRS): These scales evaluate the genetic risk of developing polygenic diseases, such as IBS and arterial hypertension, based on the analysis of many genetic options. PRS are not diagnostic tests, but can help in risk stratification and the development of individual prevention strategies.
3.2 when should the possibility of genetic testing be considered?
Genetic testing can be useful in the following situations:
- The presence of a family history of the SSZ with the early beginning: If relatives of the first degree of kinship had a SVD at a young age (for example, IBS up to 55 years old in men and up to 65 years in women), genetic testing can help evaluate the risk of developing these diseases.
- Diagnosis of hereditary SSZs: Genetic testing can confirm the diagnosis of hereditary SSZ, such as family hypercholesterolemia, cardiomyopathy, or congenital heart disease.
- Stratification Risk: Genetic testing, including PRS, can help in stratification of the risk of the development of SSZ, especially in people with moderate risk for traditional risk factors.
- Definition of treatment tactics: In some cases, genetic information can help determine the tactics of treatment. For example, with family hypercholesterolemia, genetic tests can help choose the most effective drug to reduce cholesterol.
- Family planning: Genetic testing can be useful for family planning if one or both parents are carriers of mutations causing hereditary SSZ.
3.3 Advantages and limiting genetic testing
Genetic testing has a number of advantages:
- Early diagnosis: Genetic testing can reveal a genetic predisposition to the SVD until the symptoms appear, which allows you to take measures for prevention and early treatment.
- Individualization of treatment: Genetic information can help in choosing the most effective treatment for a particular person.
- Family planning: Genetic testing can help families make conscious decisions on family planning.
However, genetic testing also has some restrictions:
- Incomplete penetrance: Not all people with a mutation causing a hereditary SSZ are developing a disease. Penetransiness is a percentage of people with a mutation that develops a disease.
- Various expressiveness: People with the same mutation can observe different symptoms and severity of the disease.
- Vague results: Genetic testing can identify options whose value is unknown to health (options for uncertain significance).
- Price: Genetic testing can be expensive.
- Ethical questions: Genetic testing raises ethical issues related to confidentiality, discrimination and use of genetic information.
3.4 Consulting genetics
Before conducting genetic testing, it is recommended to consult a geneticist. The geneticist can help evaluate the risk of the development of SVD, choose the most suitable type of testing, interpret the results and provide consultations on prevention and treatment.
Section 4: Genetics and lifestyle: how to reduce genetic risk
Despite the genetic predisposition, the lifestyle plays an important role in the development of the SVD. A healthy lifestyle can significantly reduce the risk of the development of SVD, even in people with high genetic risk.
4.1 Diet for heart health
Proper nutrition is one of the most important factors in the prevention of SSZ.
- Reducing the consumption of saturated and trans fats: Saturated fats contained in fatty meat, butter and cheese increase the level of LDL cholesterol. Transfiders contained in processed products also increase LDL cholesterol and reduce LDL cholesterol (“good” cholesterol).
- Increased consumption of unsaturated fats: Unsaturated fats contained in olive oil, avocados, nuts and fatty fish can help reduce LDL cholesterol and increase the level of HDL cholesterol.
- Increase in fiber consumption: Fiber contained in fruits, vegetables, whole grain products and legumes can help reduce LDL cholesterol and control blood sugar.
- Salt consumption restriction: Excess salt in the diet increases blood pressure.
- Increase in potassium consumption: Potassium, contained in bananas, oranges, potatoes and tomatoes, helps reduce blood pressure.
- Sugar consumption restriction: Excess sugar in the diet increases the risk of diabetes, which is an important risk factor in the SSZ.
The Mediterranean diet, rich in fruits, vegetables, whole grain foods, olive oil and fish, is one of the best heart health options.
4.2 Physical activity
Regular physical activity reduces the risk of CVD.
- Aerobic exercises: At least 150 minutes of moderate or 75 minutes of intensive aerobic activity per week are recommended. Examples of aerobic exercises are walking, running, swimming and cycling.
- Power exercises: It is recommended to perform strength exercises at least twice a week. Power exercises help strengthen muscles and improve metabolism.
Physical activity helps reduce blood pressure, LDL cholesterol level, blood sugar and weight.
4.3 Refusal of smoking
Smoking is one of the most significant risk factors of the SSZ. Refusal of smoking significantly reduces the risk of developing SVD and other diseases.
4.4 weight control
Excess weight or obesity increases the risk of CVD. Reducing weight, even by a small amount, can improve heart health.
4.5 Control of blood pressure and cholesterol level
Regular control of blood pressure and cholesterol levels allows you to identify problems at an early stage and take measures for their correction.
4.6 Stress decrease
Chronic stress increases blood pressure and can contribute to the development of SVD. It is important to learn how to manage stress using relaxation techniques, such as yoga, meditation or walking in nature.
4.7 Dream
The lack of sleep increases blood pressure, blood sugar and the risk of CVD. It is recommended to sleep at least 7-8 hours a day.
4.8 Regular medical examinations
Regular medical examinations allow you to identify the risk factors of the SVD and take measures to correct them.
Section 5: Prospects for genetics in cardiology
Genetics plays an increasingly important role in cardiology. In the future, genetic tests will be used for a more accurate diagnosis, risk stratification and development of individual SSZ prevention and treatment strategies.
5.1 Pharmacogenetics
Pharmacogenetics is a study of the effect of genetic variations on the body’s response to drugs. Pharmacogenetic tests can help doctors choose the most effective and safe drug for a particular person. For example, pharmacogenetic tests can be useful when prescribing statins to reduce cholesterol or anticoagulants to prevent thrombosis.
5.2 Gene therapy
Gene therapy is a promising method of treating hereditary SSZs. Gene therapy involves the introduction of a healthy copy of the gene into the body cells to replace the mutant gene. Gene therapy is in the early stages of development, but has a potential for the treatment of diseases such as family hypercholesterolemia and cardiomyopathy.
5.3 Genoma editing
Genoma editing is a new technology that allows you to accurately change DNA in cells. The genome editing can be used to correct mutations that cause hereditary SSZ. CRISPR-CAS9 is the most famous genome editing system. The genome editing is in the early stages of development, but has a huge potential for the treatment of genetic diseases.
5.4 Artificial intelligence and genetics
Artificial intelligence (AI) can be used to analyze the large volumes of genetic data and identify new genes and genetic options associated with the SVD. AI can also be used to develop personalized strategies for the prevention and treatment of SVD based on genetic information.
5.5 Epigenetics
Epigenetics is a study of changes in the expression of genes that are not associated with changes in DNA consecration. Epigenetic changes can be caused by environmental factors, such as diet, smoking and stress. Epigenetics plays an important role in the development of SVD, and understanding of epigenetic mechanisms can help in the development of new prevention and treatment strategies.
In conclusion, genetics plays an important role in the development of SVD. Understanding the genetic factors affecting the health of the heart allows us to more consciously approach the prevention and treatment of these diseases. A healthy lifestyle, regular medical examinations and the use of genetic testing, if necessary, can help reduce the risk of CVD development and improve heart health. The development of genetics and related areas, such as pharmacogenetics, genetic therapy and editing of the genome, opens up new prospects for the treatment of hereditary SVDs.