Every parent wants to provide whatever they can to help their child grow up happy and healthy. Most people will immediately think of things like a safe place to live, healthy food to eat, a good education, and so on. However, the very first thing that a parent provides is something much more fundamental: the genes that determine the biological makeup of their child. As I have written about before in this blog post, our gene DNA sequences determine the functions of the proteins, cells, tissues and organs that biologically define us. But we can’t change our DNA sequences (at least not yet, though maybe one day it will be possible through genome editing technology such as CRISPR/Cas9), so is there any way of controlling the genetic information we pass on to our children?
When you visit your general practitioner you can get your blood analyzed for cholesterol and triglycerides, to get an idea of your risk for cardiovascular disease. With additional information about BMI, smoking habits and blood pressure, this can be used to calculate your 10-year risk for cardiovascular disease. There are several risk prediction calculators available today that general practitioners can use the before they give advice and prescriptions to their patients. This risk calculators predicts the 10-year risk for dying form cardiovascular disease, and includes information on age, gender, smoking habits, systolic blood pressure and total cholesterol.
Evolutionary pressures forced all living species to adapt to challenging and hostile environments. Giraffes developed long necks that enable them to reach more food on top of trees, birds can fly to escape dangers from ground level and humans became smart enough to domesticate their previous predators. These characteristics evolved over millions of years as a result of random DNA mutations, which somehow conferred survival advantage to an organism that would then pass this “good mutation” to the next generations. Although these DNA alterations (mutations) are necessary for the evolution of species, their random nature sometimes gives rise to unwanted characteristics. This is the case of genetic diseases that have haunted humanity for centuries.
We hear about them all the time – this gene causes a disease, or that gene is important for normal heart function. Most people could tell you that your genes are made of something called DNA, that you inherit them from your parents and pass them on to your children, and that they determine much of who you are and what you look like. But how do we get from genes to an entire organism, and what control do we have over our genes?
To answer these questions, we need a basic understanding of what is known as the “central dogma” of biology, which describes the one way flow of genetic information. While the reality is more complex than this, the flow can be simplified as such:
Familial Hypercholesterolaemia (FH) is the most common of all severe familial disorders and its hallmark is high LDL-cholesterol in plasma. The disease is carried by one out of 200-300 persons in Europe – that is to say a total of about 2 million people in Europe carry FH. The disease is present from early childhood, but is carried without symptoms until the third or fourth decade in life, when heart disease will appear. If untreated, 50 percent of men will have had their first heart attack before the age of 50 years, and women before 55 years. To carry FH is to carry a ticking bomb that, if untreated, will cause cardiac disease or death.
The response to exercise training is often described in general terms, with the assumption that the group average represents a typical response for most individuals. However, in reality, it is more common for individuals to show a wide range of responses to identical exercise programs. In 1999, a large study published by Claude Bouchard and colleagues, reported that 20 % of us show little or no gain in maximal oxygen consumption (VO2max) with exercise training. This is a concern, since a high VO2max is associated with decreased rates of cardiovascular morbidity and mortality. Exploring the phenomenon of high responders and low responders following the same exercise program may provide helpful insights into mechanisms of training adaptation and methods of training prescription.
In Western world, cardiovascular disease (CVD) is among the leading cause of premature death and a major cause of disability. Over the years, the knowledge of CVD risk factors clustering and their multiplicative interactions to promote CVD risk has led to the development of multivariable risk prediction algorithms to use in primary care settings. The guidelines for CVD prevention recommend that an individual’s risk of CVD is estimated by combining different risk factors into a numeric estimate of risk. Most of these risk prediction algorithms include well-known CVD risk factors such as: age, sex, hypertension, cholesterol, smoking, family history of CVD and diabetes mellitus. A variety of risk prediction algorithms are available, as charts, tables, computer programmes, and web-based tools.