Genetics and Stem Cells

پنجمين كنگره بين المللي پيشگيري از بيماريهاي قلب و عروق

7 الي 9 مهر 1395، شيراز - ايران

Presentation Type: Speech

Major cardiovascular diseases (CVD) include coronary heart disease, cerebrovascular disease, heart failure, rheumatic heart disease and congenital heart disease. In families, risk of heart disease often runs and it is suggesting a genetic influence. These may be single gene defects or many genes which together increase risk of heart disease.
Both of nuclear genes and Mitochondrial genes my involved in pathogenesis of cardiac disease. Conventional heart disease risk factors, such as cholesterol levels, blood pressure etc. only explains part of an individual’s risk, but we can add genetic information to these factors and improve risk prediction.
More than 150 genes have been identified that influence an individual’s risk.
At this point this lead to the development of genetic tests that will help identify those at risk of early heart disease so they can be offered lifestyle and therapeutic measures to reduce their risk.
For example, in the UK an estimated 120,000 individuals have FH, caused by a single gene defect, resulting in high blood cholesterol and increased early heart disease. FH patients respond well to cholesterol-lowering by statins making early identification important and life-saving. It has shown that it is cost-effective to use a genetic test in these families to identify new FH cases.
Currently we can use state of the art “Deep-Sequencing” technology/NGS to identify the genetic basis of FH as well as other familial heart disease in those patients where no mutation can currently be found.
The myocardium depends on a high level of aerobic metabolism to supply blood and energy substrate to all organs of the body. The mitochondria have a key role in energy production and in the growth and regulation of cardiac bio-energetic arrangements. The mitochondrial dysfunction increases the production of ROS.
- Genetic testing should be considered a family test rather than a test that is relevant or accurately interpreted on only a single individual.
- It is not always possible to find a disease-causing gene mutation. Heart disease may still be inherited even if the genetic test result is negative.
- As genetic testing becomes increasingly available an appropriate genetic counseling on the risks and benefits of these tests make a cost benefit approach. Genetic counseling is critical for understanding how genetic information may impact on future health, as well as the patient family.

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