Over the past 20 years, hundreds of diseases have been linked to mutations in certain genes. A growing number of these mutant genes can now be detected via a simple blood test.
How much influence does your genetic makeup have over your health? What can you do if a hereditary ailment runs in your family? Who should undergo genetic testing.
For the answers to these and other questions, we spoke with Yale genetic counselor Ellen Matloff...
*To what extent is illness determined by "bad" genes? We shouldn't really call these genes "bad." We all have genetic mutations. Each of us is probably predisposed to at least one disease...whether it's cancer, heart disease, high cholesterol or a blood disorder.
Having a mutation that has been linked to a specific illness doesn't guarantee that you'll develop that illness. It just means you're at high risk.
In many cases, you can minimize the risk by adopting a healthy lifestyle...and by keeping an especially close watch on your health.
With some genetic defects, including those causing certain types of thyroid and colon cancer, risk of developing the disease in question can be close to 100%. That means anyone with the mutant gene who lives to age 85 is almost certain to develop the cancer unless the organ is removed...no matter what other preventive measures are taken.
With other mutant genes, the risk is less certain. If you have one of the recently identified genes linked to breast cancer, for example, you have an 85% chance of getting breast cancer by age 85. The general population of women face a 10% risk of breast cancer.
These mutations are also associated with a 50% to 60% lifetime risk of ovarian cancer (versus a 1% lifetime risk for the general population).
Stress response is actually part of a larger response known as the general adaptation syndrome. To fully understand how to combat stress, it is important that we take a closer look at the general adaptation syndrome. The general adaptation syndrome is broken down into three phases: alarm, resistance, and exhaustion.
These phases are largely controlled and regulated by the adrenal glands. The initial response to stress is the alarm reaction, which is often referred to as the fight-or-flight response. The fight-or-flight response is triggered by reactions in the brain that ultimately cause the pituitary gland to release adrenocorticotropic hormone (ACTH), which causes the adrenals to secrete adrenaline and other stress-related hormones. The fight-or-flight response is designed to counteract danger by mobilizing the body's resources for immediate physical activity. As a result, the heart rate and force of contraction of the heart increase to provide blood to areas necessary for response to the stressful situation.
Blood is shunted away from the skin and internal organs, except the heart and lungs, while the amount of blood supplying needed oxygen and glucose to the muscles and brain is increased. The rate of breathing increases to supply necessary oxygen to the heart, brain, and exercising muscle. Sweat production increases to eliminate toxic compounds produced by the body and to lower body temperature. Production of digestive secretions is severely reduced since digestive activity is not critical for counteracting stress. And blood sugar levels are increased dramatically as the liver dumps stored glucose into the bloodstream. While the alarm phase is usually short lived, the next phase-- the resistance reaction--allows the body to continue fighting a stressor long after the effects of the fight-or-flight response have worn off. Other hormones, such as cortisol and other corticosteroids secreted by the adrenal cortex, are largely responsible for the resistance reaction.
For example, these hormones stimulate the conversion of protein to energy so that the body has a large supply of energy long after glucose stores are depleted; they also promote the retention of sodium to keep blood pressure elevated.
In addition to providing the necessary energy and circulatory changes required to deal effectively with stress, the resistance reaction provides those changes required for meeting emotional crisis, performing strenuous tasks, and fighting infection. However, while the effects of adrenal cortex hormones are necessary when the body is faced with danger, continued stress or prolongation of the resistance reaction increases the risk of significant disease (including diabetes, high blood pressure, and cancer) and results in the final stage of the general adaptation syndrome: exhaustion.
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