GENETIC ANALYSIS AND CARDIOMYOPATHIES
Approximately half of all cardiomyopathies are hereditary, meaning they can be passed from parents to children. Currently, more than 100,000 have been identified. 70 genes responsible for cardiomyopathies, but this number is expected to increase as research progresses.
Cardiomyopathies are diseases that affect the heart muscle and its ability to pump blood to the rest of the body. It's a serious but uncommon condition that can be treated, but it's often misdiagnosed or undetected. Therefore, it's crucial to know what to look out for, including to reduce the risk of sudden cardiac death.
What is a gene?
Genes carry the information that determines personal traits and characteristics, as well as many other individual traits that are passed down, or inherited, from parents. Each cell in the human body contains between 25.000 and 35.000 genes.
Genes carry the information that determines personal traits and characteristics, as well as many other individual traits that are passed down, or inherited, from parents. Each cell in the human body contains between 25.000 and 35.000 genes.
Despite this, genetic testing is only performed on a minority of patients. Current guidelines recommend genetic counseling and testing for all patients diagnosed with cardiomyopathy, but in Europe, most patients do not undergo this testing.
If you have or suspect you have cardiomyopathy, or have had sudden death at a young age without an apparent cause, it is essential to know your family history and undergo a genetic test or genetic analysis.
Genetic testing can be crucial for identifying individuals at increased risk of developing cardiomyopathy. Furthermore, research is ongoing to develop new therapies targeting the known genes responsible for some forms of cardiomyopathy. Genetic testing contributes to the advancement of research and future genetic therapies and can therefore save lives.
Genetic analysis in cardiomyopathies involves the search for and identification of genetic mutations associated with these diseases. This process involves the study of genes involved in the regulation and function of the heart muscle. By analyzing patients' DNA, it is possible to identify specific genetic alterations or mutations which can contribute to the development of the disease.
Today we know thousands of “mutations”, in numerous genes that cause cardiomyopathies, although several genes remain to be identified. The search for "mutations" in the genes known to date is important for a proper evaluation of patients with cardiomyopathy and their family members.
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What genetics studies, what is DNA and when was it discovered.
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Discover DNA and the genetic code
What genetics studies, what is DNA and when was it discovered.
Follow this link:
Discover DNA and the genetic code
NGS Genetic Analysis
Genetic analysis (NGS – next generation sequencing) allows you to identify one or more mutations (also called "variants”) of the genetic code in one or more genes, responsible for the development of cardiomyopathy. For each type of cardiomyopathy, the most frequently found groups of genes are analyzed.
For example, for patients with hypertrophic cardiomyopathy, 12 genes are initially analyzed: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, ACTC1, MYL2, MYL3, GLA, LAMP 2, PRKAG2, TTRIf no genetic mutations are identified in these genes, the cardiologist may request a more in-depth analysis, extending the analysis to additional groups of genes.
In some laboratories, a greater number of genes are immediately analyzed (e.g. 45 or 174) and in some cases it is also possible to examine the whole set of genes (Exome).
Genetic analysis (NGS – next generation sequencing) allows you to identify one or more mutations (also called "variants”) of the genetic code in one or more genes, responsible for the development of cardiomyopathy. For each type of cardiomyopathy, the most frequently found groups of genes are analyzed.
For example, for patients with hypertrophic cardiomyopathy, 12 genes are initially analyzed: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, ACTC1, MYL2, MYL3, GLA, LAMP 2, PRKAG2, TTRIf no genetic mutations are identified in these genes, the cardiologist may request a more in-depth analysis, extending the analysis to additional groups of genes.
In some laboratories, a greater number of genes are immediately analyzed (e.g. 45 or 174) and in some cases it is also possible to examine the whole set of genes (Exome).
Genetic analysis allows you to:
- precisely identify the type of disease underlying Cardiomyopathy
- choose the most appropriate therapy
- carry out a more accurate assessment of the risk of evolution and complications in subsequent years, obviously together with other clinical and instrumental elements (for example: ECG, Echocardiogram, cardiac magnetic resonance, cardiorespiratory test, dynamic ECG)
- check if there is familial transmission of Cardiomyopathy, by looking for the mutation in family members as well
With current techniques the detection of a genetic variant is more frequent if one cardiomyopathy has already been diagnosed, through ECG and ECHO, also in other family members (the probability is about 60%, while it is lower if it has not been found in family members, about 30%).
Genetic analysis must be preceded by genetic counseling, provided by a genetics specialist or an experienced cardiologist, as well as the interpretation of the written report.
Genetic analysis begins with a blood sample. But before this, a patient interview is necessary to discuss the family structure and any illnesses or significant events. For example, it's important to know if other family members suffer from cardiomyopathy, have died suddenly, or have heart or kidney failure.
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THE FUTUREOne of the goals of scientific research is the correction of genetic mutations, which can be applied to the treatment of cancer and inherited genetic diseases, including cardiomyopathy. However, gene editing poses numerous ethical issues and is still being studied.
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