Genetic Disorders and Birth Defects

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• QCan I control which genes my child will express?

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  A Dr. Michael Roizen, MD , Internal Medicine, answered

  

  While you can't control which genes you pass on to your child, you do have some influence over which genes are expressed, affecting what features are seen in your baby (his phenotype). In fact, how what you eat, breathe, and even feel can affect the long-term health of your child.
  
  Stressors in the mother's environment cause a change in the gene expression patterns of the fetus. That means the chemicals your baby is exposed to in utero, via the foods you eat and the cigarettes you don't inhale, serve as biological light switches in your baby's development. On, off, on, off—you decide how your child's genes are expressed, even as early as conception.
  
  You don't have total control. We still don't know how you can change your baby's eye color, or when his hair falls out. But we do know how to influence some really important factors like your child's weight or intelligence. So there's an important reason why we're able to turn certain genes on and off. Our bodies have to adapt to a changing environment (that's how a species survives, after all). But our ability to adapt would be much too slow if we had to wait generations for our genes to change through random mutation (the classical theory of evolution).

  

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• QWhat role does family history play in disease?

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  A Carrie Bilicki , Oncology Nursing, answered on behalf of Aurora Health Care

  Traditionally, genetics has been a field of rare diseases causes by single gene mutations that affect few individuals. Since the completion of the human genome project, medicine has begun to rapidly gain knowledge into how our genes contribute to complex common diseases such as heart disease, strokes, neurological disease and cancer.  With increased understanding of the genetic basis of common and chronic health problems affecting both children and adults, this allows a physician to improve their ability to diagnose, manage, treat and possibly prevent many disorders.

• QWhat increases my risk for cystic fibrosis?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  According to the Cystic Fibrosis Foundation, cystic fibrosis (CF) is a genetic disease. This means individuals inherit it from their parents through genes (or DNA), which also determine a lot of other characteristics, such as eye color, height, and hair color. To have CF, a person must inherit two copies of the defective CF gene, one copy from each parent. If both parents are carriers of the CF gene (i.e., they each have a single copy of the defective gene, but do not have the disease themselves), their child will have a 25% chance of inheriting both defective copies and having CF, a 50% chance of inheriting one defective copy and being a carrier, and a 25% chance of not having CF or carrying the gene.
• QWho gets cystic fibrosis?

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  A Dr. Lyall A. Gorenstein, MD , Thoracic Surgery (Cardiothoracic Vascular), answered on behalf of Columbia University Department of Surgery

  Cystic fibrosis occurs in about 1 in 2,000 live births among white children and at a far lower rate in black and Asian children. Boys and girls get cystic fibrosis equally. At present, only 50% of those diagnosed with CF as infants or young children live beyond their late twenties. However, that percentage is rising as an increasing number of patients are only mildly affected and survive into adult life.

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• QWhat causes cystic fibrosis?

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  A RealAge answered

  

  Cystic fibrosisis a metabolic disorder that’s passed on from parent to child. It’s seen mostly in Caucasians of Central and Northern European descent, but affects every race. Being a carrier of the gene that can cause CF does not mean that it will occur.

  From Good Kids, Bad Habits: The RealAge Guide to Raising Healthy Children by Jennifer Trachtenberg.

  

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• QDoes every person have some cancer cells in their body?

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  A Dr. Michael Roizen, MD , Internal Medicine, answered

  

  For all the threats that cancer poses, the truth is that most of us know more about 1970s sitcoms than we really know about cancer. For instance, you probably don't know that you have cancer. That's right. Every single person has cancer cells in them. But in most cases, your body finds the cells, realizes that they're foreign, and kills them right away-without you even knowing that it happened.

  

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• QWhat happens when your p53 genes are overaggressive?

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  A Dr. Mehmet Oz, MD , Cardiology (Cardiovascular Disease), answered

  

  Just as an overaggressive guard dog can go bad, so can your p53 protein. It can be too aggressive, even though on the surface it's doing the right thing. In your body, the p53 gets too aggressive by killing off perfectly good cells and inducing the state of gradual organ wear and tear that contributes to aging and frailty. In strokes, much of the damage is actually done not by the deprivation of oxygen due to an artery's being cut off, but by the restoration of blood flow once it opens up. This restoration causes a misactivation of p53 and kills cells that are essentially normal.
  
  Sometimes p53 can become overstimulated and halt replication in your progenitor cells (another name for your adult stem cells), which is a bad thing—especially when you're older and don't have as many progenitor cells to help revitalize your organs. By stopping reproduction of progenitor cells, you reduce the ability of your body to repopulate organs, meaning you may end up without enough cells in your lungs or liver or kidney or anywhere else, for that matter. Lack of these progenitor cells equals less repaired organs.
  
  That's especially important as you age, because progenitor cells are also prone to oxidative stress—making your p53 even more dangerous. In rats with elevated p53 action, for example, life expectancy is 20 percent shorter, and it also comes with a side order of old-age symptoms like muscle atrophy, thin skin, and hunched backs.

  

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• QWhat happens when your p53 genes are underactive?

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  A Dr. Michael Roizen, MD , Internal Medicine, answered

  

  In a perfect world, you'd be able to kill the cancers and let the stem cells through. But the p53 protein doesn't always follow our ideal model. Sometimes it's not active enough (increasing your risk of cancer), and sometimes it's more aggressive than a German shepherd with its crosshairs on a drug smuggler (increasing your risk of dying from frailty).
  
  One example of how this works is in people with what's called Li-Fraumeni syndrome. People with this rare syndrome have a mutant p53 gene—it's like having their guard dog asleep at the gate. Half the people with this syndrome develop cancer by age 30, compared to 1 percent of the regular population. On the other extreme, having the perfect model of p53 (in other words, an aggressive one) means that you increase the risk of death from frailty.

  

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• QWhat is the Methuselah gene?

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  A Discovery Health answered

  Researchers have discovered that some people have a genetic mutation that decreases their cells' use of a particular growth hormone, called IGF1, which stands for insulin-like growth factor 1. As a result, they tend to be smaller and live longer than an average life span. The genetic mutation is referred to as Methuselah's gene because that biblical figure lived to the ripe old age of 969.

• QWhat medications help treat cystic fibrosis?

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  A Univ. of Nev. School of Medicine, Family Medicine answered

  Symptomatic treatment of cystic fibrosis involves use of antibiotics for lung infections, as well as bronchodilators and steroids to ease breathing. Further threatment includes medications and treatments that help remove secretions from the lungs. However, all patients with cystic fibrosis should have genetic testing to determine whether they will benefit from medications that correct the malfunctioning protein, which leads to symptoms.