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Anchor lead: DNA all over your body is quite variable and may have many mutations, Elizabeth Tracey reports

Many new tests poised to become clinically useful rely on analyzing DNA and finding changes known as mutations or other features to identify cancer as well as a host of other diseases early. Now accumulating research has shown that when it comes to variability, your DNA is all over the map, all the time. Cristian Tomasetti, a cancer researcher at Johns Hopkins, explains.

Tomasetti: We’re a total mess when it comes down to mutations. This mess is the new normal situation. Our tissues are accumulating mutations from development on, then, what is normal? There is no way to define normal because we are all mosaics. Very complicated ones, and very different from each other, even within the same person, the same organ. What is it we still consider normal, and when do we start getting worried that that is not so normal anymore?  :32

Tomasetti suggests testing at many times points in an indvidual’s lifetime may help. At Johns Hopkins, I’m Elizabeth Tracey.

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Anchor lead: Your DNA is a lot more random than you might think, Elizabeth Tracey reports

DNA is neatly packaged and essentially the same all over your body, right? Wrong, increasing evidence shows. Cristian Tomasetti, a cancer researcher at Johns Hopkins, says the term used to describe the actually quite variable DNA sequencing with its full range of mutations is mosaic.

Tomasetti: Mosaic means that when you look at a tissue you are going to find essentially different regions containing different mutation types. So it’s not uniform. As we age this mosaicism keeps growing, keeps getting more intense. It’s also the clones that you create. Essentially a sack of cells that have the same mutation as that mother cell. And if it’s a driver gene driving cancer, now that group of cells is one step closer to cancer.   :32

Tomasetti says this observation has implications for new cancer screening tests that look for mutations. At Johns Hopkins, I’m Elizabeth Tracey.

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Anchor lead: Strokes may be treated within a longer time window, Elizabeth Tracey reports

Strokes caused by clots in the brain may now be treated with clot dissolving drugs within about 9 hours, a new study suggests, as long as brain imaging shows there’s tissue that may benefit. Rebecca Gottesman, a stroke expert at Johns Hopkins, describes the findings.

Gottesman: This study suggested that if people have a mismatch between the dead brain tissue where the stroke occurs, and an area surrounding it which is at risk, then there’s tissue at risk that’s potentially salvageable brain tissue that we want to try to save. Those people that have that mismatch would be people who got TPA up to nine hours in this study. And what they found is in their primary analysis when they adjust and they consider age and level of stroke severity, they did see a difference with a greater benefit in people who had TPA than in people who didn’t.   :30

Gottesman says this study attempted to address those who may go to bed and wake up with stroke symptoms, and therefore don’t know how long ago such symptoms may have developed. She says anyone with symptoms of a stroke should seek help immediately. At Johns Hopkins, I’m Elizabeth Tracey.

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Anchor lead: Does brain training help stave off Alzheimer’s disease? Elizabeth Tracey reports

Education seems to produce a cognitive reserve, helping stave off clinical signs of Alzheimer’s disease even while the biological process continues, research by Rebecca Gottesman, a neurologist at Johns Hopkins, and colleagues has shown. Gottesman says the study suggests that brain training may help but there is no one size fits all.

Gottesman: I don’t think it’s one magical formula as to this is the brain training test you need to do, it really is going to vary from person to person to what’s some kind of cognitively taxing activity for them to do that they enjoy. If you don’t enjoy doing it and you never do it it doesn’t serve any purpose certainly. So doing something theoretically may be helpful. Our study doesn’t tell us that doing those things specifically is helpful but there’s evidence that it might be theoretically but we just don’t know what those individual recipes are for cognitive training for different people.  :28

Other preventive strategies identified by experts include regular exercise and keeping blood pressure within normal limits, she notes. At Johns Hopkins, I’m Elizabeth Tracey.

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Anchor lead: What is the link between education level and Alzheimer’s disease? Elizabeth Tracey reports

People with more years of education seem to manifest Alzheimer’s disease less often than those with fewer years. Now a new study by Rebecca Gottesman, a neurologist at Johns Hopkins, and colleagues, separates pathology in the brain from thinking.

Gottesman: People’s educational level, meaning how many years of education they got, as well as their cognitive performance on tests when they were middle aged, were both associated with their cognitive performance when they were older. If you have better performance when you’re younger you’ll still have better performance when you’re older, but they were not associated with amyloid in the brain. The lack of an association there suggests that the way that these factors protect against dementia is by making your cognitive performance better and not necessarily directly impacting the processes that lead to Alzheimer’s such as amyloid buildup.  :30

Gottesman notes that studies that deplete amyloid have been disappointing so far in preventing or treating Alzheimer’s disease, but education may help. At Johns Hopkins, I’m Elizabeth Tracey.

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Anchor lead: Who will treat all the people who are surviving cancer? Elizabeth Tracey reports

By 2030, there will be millions of people who’ve survived their cancer treatment, the American Cancer Society has just reported, and while that’s great news, it does leave the medical system in a bit of a bind. William Nelson, director of the Kimmel Cancer Center at Johns Hopkins, comments.

Nelson: The current strategy of having them in sort of No Man’s Land between being returned to primary care and chronically coming back and visiting surgeons, radiation oncologists and medical oncologists, who are treatment oriented specialists, may not be the right approach. There aren’t enough medical oncologists, radiation oncologists, to take care of the people who need the treatment. Having their time devoted to long term survivors doesn’t make much sense. Primary care as it exists now is unequipped to take care of the problems these people will present, so this is a health services challenge and I think that’s why they pointed it out. :33

Nelson says this may indicate a need for a cancer survivor specialty to be developed. At Johns Hopkins, I’m Elizabeth Tracey.

 

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Anchor lead: A mouse model may point the way toward a better understanding of how Parkinson’s disease develops, Elizabeth Tracey reports

A protein called synuclein that’s involved in nerve cell communication is thought to be the culprit in causing Parkinson’s disease. Now a mouse model developed by Ted Dawson, a Parkinson’s disease expert at Johns Hopkins, and colleagues, shows that when aberrant synuclein is injected into the GI tract, the condition develops.

Dawson: We took pathologic synuclein that we made in a test tube. We injected it into the stomach. These mice get Parkinson’s disease, move slowly, they’ve got GI problems, problems with cognition, anxiety, depression. It just completely replicates Parkinson’s disease. It really supports the idea that Parkinson’s disease can start in the stomach.  :32

Now the question of how to interrupt this process is being investigated, Dawson says. At Johns Hopkins, I’m Elizabeth Tracey.

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