Wednesday, September 18, 2013

Many of us have more than one genome, either from mutations--or from people with whom we shared a womb


This is amazing. We don't have any way to know it, short of multiple DNA and/or blood tests, but many of us might actually be fused twins!

DNA Double Take
Noah Berger
New York Times
September 16, 2013

From biology class to “C.S.I.,” we are told again and again that our genome is at the heart of our identity. Read the sequences in the chromosomes of a single cell, and learn everything about a person’s genetic information — or, as 23andme, a prominent genetic testing company, says on its Web site, “The more you know about your DNA, the more you know about yourself.”

But scientists are discovering that — to a surprising degree — we contain genetic multitudes. Not long ago, researchers had thought it was rare for the cells in a single healthy person to differ genetically in a significant way. But scientists are finding that it’s quite common for an individual to have multiple genomes. Some people, for example, have groups of cells with mutations that are not found in the rest of the body. Some have genomes that came from other people.

“There have been whispers in the matrix about this for years, even decades, but only in a very hypothetical sense,” said Alexander Urban, a geneticist at Stanford University. Even three years ago, suggesting that there was widespread genetic variation in a single body would have been met with skepticism, he said. “You would have just run against the wall.” ...

In 1953... a British woman donated a pint of blood. It turned out that some of her blood was Type O and some was Type A. The scientists who studied her concluded that she had acquired some of her blood from her twin brother in the womb, including his genomes in his blood cells.

Chimerism, as such conditions came to be known, seemed for many years to be a rarity. But “it can be commoner than we realized,” said Dr. Linda Randolph, a pediatrician at Children’s Hospital in Los Angeles who is an author of a review of chimerism published in The American Journal of Medical Genetics in July.

Twins can end up with a mixed supply of blood when they get nutrients in the womb through the same set of blood vessels. In other cases, two fertilized eggs may fuse together. These so-called embryonic chimeras may go through life blissfully unaware of their origins.

One woman discovered she was a chimera as late as age 52. In need of a kidney transplant, she was tested so that she might find a match. The results indicated that she was not the mother of two of her three biological children. It turned out that she had originated from two genomes. One genome gave rise to her blood and some of her eggs; other eggs carried a separate genome.

Women can also gain genomes from their children. After a baby is born, it may leave some fetal cells behind in its mother’s body, where they can travel to different organs and be absorbed into those tissues. “It’s pretty likely that any woman who has been pregnant is a chimera,” Dr. Randolph said.

Everywhere You Look

As scientists begin to search for chimeras systematically — rather than waiting for them to turn up in puzzling medical tests — they’re finding them in a remarkably high fraction of people. In 2012, Canadian scientists performed autopsies on the brains of 59 women. They found neurons with Y chromosomes in 63 percent of them. The neurons likely developed from cells originating in their sons.

In The International Journal of Cancer in August, Eugen Dhimolea of the Dana-Farber Cancer Institute in Boston and colleagues reported that male cells can also infiltrate breast tissue. When they looked for Y chromosomes in samples of breast tissue, they found it in 56 percent of the women they investigated.

Saturday, September 14, 2013

Apples fight heart disease, cancer and strokes

Apples fight heart disease, cancer and strokes
by ANDREA PERRY
Daily Mail
Sep 14 2013

The old proverb of an apple a day keeps the doctor away is proving to be true.

If there is any one thing that you can do to stay well then it is to eat at least two apples daily according to a whole raft of new scientific research which places apples at the top of the healthy-living tree.

It may sound far-fetched but an apple contains so many beneficial ingredients that it will protect you from contracting a whole range of life threatening conditions such as cancer or suffering a stroke.

The latest pioneering research in America has revealed that drinking apple juice and eating apples can reduce the risk of heart disease.

The clinical trial involved healthy adults drinking 12oz of 100 per cent apple juice daily or eating two apples.

The time it took for cholesterol in the body to oxidise, or break down, increased by up to 20 per cent after just six weeks of following the apple diet.

It turns out that apples contain phytonutrients or phytochemicals (compounds found in plants) which act as antixiodents against LDL (low-density lipoproteins), the damaging portion of cholesterol in the blood stream.

Apples are also rich in pectins, which are soluble fibres which it has been demonstrated are effective in lowering cholesterol levels.

Dianne Hyson, a registered dietician and lead researcher of the study, said: 'Previous studies have shown that eating fruits and vegetables is associated with a reduced risk of coronary artery disease, but this is the first clinical study to show the potential benefits of active compounds in apple juice and apples.'

'A very moderate intake of apple juice or apples has the potential to reduce risk factors for heart disease in a fairly short period of time,' she said. 'These small diet changes might play an important role in a heart healthy diet.'

Volunteer, father of two Jack Farrell said: 'If I can get this result from just drinking 12ozs of apple juice a day, it's definitely worth making part of my daily routine.'

Other amazing facts about apples

Apples ward off strokes

Finnish researchers found that individuals who ate the most apples had the lowest risk of suffering a stroke, due to the benefits of the active compounds called phytonutrients found in apples.

Their conclusion was based on evaluation of dietary records and health outcomes of 9,208 men followed for 28 years.

Apples give you better lungs

British researchers found that apple eaters had better lung function than non-apple eaters.

After analysing the health and dietary records of 2,512 men, scientists discovered a strong link between positive lung function and the number of apples eaten each week.

Although other researchers had suggested that vitamin C from fresh fruit was responsible for improving lung function, this investigation found otherwise.

These researchers believe that it is the consumption of antioxidant-like phytonutrients in apples, such as flavonoids especially one member called quercetin which reduces the risk of cancer and heart attacks. This they say provides an explanation for the healthful effect of apples.

Apples beat cancer

Researchers in Hawaii found that an increased consumption of quercetin (from apples and onions) was associated with a reduced risk of lung cancer.

This was supported by epidemiologists from Finland's National Public Health Institute who concluded that a flavonoid-rich diet (and particularly those flavonoids from apples) was associated with a reduced risk of developing cancer.

Their study of 9,959 cancer-free men and women revealed that people who regularly consumed the most flavonoid-rich foods were about 20 per cent less likely to develop cancer.

The researchers found that lung cancer was 46 percent lower among those on these diets and that high consumption of apples was also directly associated with the lowest risk for coronary mortality.

This conclusion was based on their analysis of diet and health outcomes of an ongoing study of 5,133 Finnish men and women aged 30-69, who were initially free of heart disease when the study began in 1967.

Fruit-heavy diet may prevent against dangerous aneurysm

Fruit-heavy diet may prevent against dangerous aneurysm
Ryan Jaslow
CBS News
August 20, 2013

It's no secret that a diet full of fruits and vegetables can boost your health and may stave off chronic disease.

Now, researchers are reporting eating fruits in particular may protect against an uncommon but deadly aneurysm that develops in the abdomen.

An aneurysm is an abnormal ballooning of a portion of an artery caused by weakness in the wall of a blood vessel. Common locations these occur include the brain and the heart's major artery, the aorta.


The aorta is about as thick as a garden hose, according to the Mayo Clinic, and runs from the heart through the center of the chest and abdomen. An abdominal aortic aneurysm occurs when the ballooning of the blood vessel occurs in the lower part of the aorta. Aneurysms grow slowly over many years and people may not show symptoms, but if an abdominal aortic aneurysm, life-threatening bleeding may ensue.

Previous research suggests eating fruits and vegetables may boost vascular health, so the researchers sought out to see if produce prevented these aneurysms.

Two NYC hospitals to prescribe fruits and vegetables Vegetarian diet may reduce risk of early death Citrus fruits may lower women's stroke risk For the study, researchers split more than 80,000 Swedish men and women into four groups based on how many fruits and vegetables they ate, from the least to the most.

They were tracked for 13 years, and autopsy records showed nearly 1,100 people had abdominal aortic aneurysms, including 222 whose aneurysms ruptured. More than 80 percent of the cases were in men. The researchers found those who ate the most fruits -- which amounted to about two servings a day or more, excluding juice -- were 25 percent less likely to have an abdominal aortic aneurysm and 43 percent less likely to have one rupture compared to those who ate less than one serving of fruit.

Those in the quartile with the highest fruit intake were 31 percent likely to have an aneurysm and 39 less likely to have a rupture compared to people who ate no fruit at all.

The most commonly eaten fruits were apples and pears, followed by bananas, oranges and other citrus items.

Vegetables, however, were not associated with lower risk.

"A high consumption of fruits may help to prevent many vascular diseases, and our study suggests that a lower risk of abdominal aortic aneurysm will be among the benefits," study author Dr. Otto Stackelberg, a doctoral researcher at the Institute of Environmental Medicine's Nutritional Epidemiology Unit at Karolinska Institutet in Stockholm, said in a press release. "Other studies have found that eating more fruits and vegetables may decrease the risk of cardiovascular diseases, type 2 diabetes, high blood pressure, and several cancers," he added, emphasizing vegetables remain important to health. Also essential is never smoking or quitting if you already do smoke, said Stackelberg.

The American Heart Association, the publisher of the journal this study is featured in, Circulation, says adults should eat about four to five servings of fruits and vegetables each day to get important nutrients including folate, magnesium, potassium and dietary fiber, as well as vitamins A, C, and K.

An abdominal aortic aneurysm can be spotted on an ultrasound, and doctors may track a small one over time to see if it expands. Aneurysms can form in anyone, but are most common in men over 60 who have at least one risk factor including high cholesterol, high blood pressure, emphysema, obesity, genetic factors or are smokers.

Symptoms of a tear or rupture include severe and sudden abdominal pain, clammy skin, dizziness, rapid heart rate, nausea, vomiting and shock. You should see a doctor if you start experiencing symptoms.

The Mayo Clinic has more information.

Saturday, September 7, 2013

The New Science of Mind: Chromosomes, genes, depression, autism, schizophrenia

The New Science of Mind
New York Times
By ERIC R. KANDEL
Published: September 6, 2013

THESE days it is easy to get irritated with the exaggerated interpretations of brain imaging — for example, that a single fMRI scan can reveal our innermost feelings — and with inflated claims about our understanding of the biological basis of our higher mental processes.

Such irritation has led a number of thoughtful people to declare that we can never achieve a truly sophisticated understanding of the biological foundation of complex mental activity.

In fact, recent newspaper articles have argued that psychiatry is a “semi-science” whose practitioners cannot base their treatment of mental disorders on the same empirical evidence as physicians who treat disorders of the body can. The problem for many people is that we cannot point to the underlying biological bases of most psychiatric disorders. In fact, we are nowhere near understanding them as well as we understand disorders of the liver or the heart.

But this is starting to change.

Consider the biology of depression. We are beginning to discern the outlines of a complex neural circuit that becomes disordered in depressive illnesses. Helen Mayberg, at Emory University, and other scientists used brain-scanning techniques to identify several components of this circuit, two of which are particularly important.

One is Area 25 (the subcallosal cingulate region), which mediates our unconscious and motor responses to emotional stress; the other is the right anterior insula, a region where self-awareness and interpersonal experience come together.

These two regions connect to the hypothalamus, which plays a role in basic functions like sleep, appetite and libido, and to three other important regions of the brain: the amygdala, which evaluates emotional salience; the hippocampus, which is concerned with memory; and the prefrontal cortex, which is the seat of executive function and self-esteem. All of these regions can be disturbed in depressive illnesses.

In a recent study of people with depression, Professor Mayberg gave each person one of two types of treatment: cognitive behavioral therapy, a form of psychotherapy that trains people to view their feelings in more positive terms, or an antidepressant medication. She found that people who started with below-average baseline activity in the right anterior insula responded well to cognitive behavioral therapy, but not to the antidepressant. People with above-average activity responded to the antidepressant, but not to cognitive behavioral therapy. Thus, Professor Mayberg found that she could predict a depressed person’s response to specific treatments from the baseline activity in the right anterior insula.

These results show us four very important things about the biology of mental disorders. First, the neural circuits disturbed by psychiatric disorders are likely to be very complex.

Second, we can identify specific, measurable markers of a mental disorder, and those biomarkers can predict the outcome of two different treatments: psychotherapy and medication.

Third, psychotherapy is a biological treatment, a brain therapy. It produces lasting, detectable physical changes in our brain, much as learning does.

And fourth, the effects of psychotherapy can be studied empirically. Aaron Beck, who pioneered the use of cognitive behavioral therapy, long insisted that psychotherapy has an empirical basis, that it is a science. Other forms of psychotherapy have been slower to move in this direction, in part because a number of psychotherapists believed that human behavior is too difficult to study in scientific terms.

ANY discussion of the biological basis of psychiatric disorders must include genetics. And, indeed, we are beginning to fit new pieces into the puzzle of how genetic mutations influence brain development.

Most mutations produce small differences in our genes, but scientists have recently discovered that some mutations give rise to structural differences in our chromosomes. Such differences are known as copy number variations.

People with copy number variations may be missing a small piece of DNA from a chromosome, or they may have an extra piece of that DNA.

This single segment of chromosome 7 contains about 25 of the 21,000 or so genes in our genome, yet an extra copy or a missing copy has profound, and radically different, effects on social behavior.

The second finding is de novo point mutations, which arise spontaneously in the sperm of adult men. Sperm divide every 15 days. This continuous division and copying of DNA leads to errors, and the rate of error increases significantly with age: a 20-year-old will have an average of 25 de novo point mutations in his sperm, whereas a 40-year-old will have 65. These mutations are one reason older fathers are more likely to have children with autism and schizophrenia
...

Eric R. Kandel, a professor at the Mortimer B. Zuckerman Mind Brain Behavior Institute at Columbia, a senior investigator at the Howard Hughes Medical Institute and a recipient of the 2000 Nobel Prize in Physiology or Medicine, is the author of “The Age of Insight: The Quest to Understand the Unconscious in Art, Mind and Brain, From Vienna 1900 to the Present.”

Matthew State, at the University of California, San Francisco, has discovered a remarkable copy number variation involving chromosome 7. An extra copy of a particular segment of this chromosome greatly increases the risk of autism, which is characterized by social isolation. Yet the loss of that same segment results in Williams syndrome, a disorder characterized by intense sociability.

Friday, September 6, 2013

Shanyna Isom Grows Nails Instead Of Hair Due To Skin Condition


OMG?!? Woman Develops Strange Condition Where Fingernails Grow From Hair Follicles…
Aug. 10 2012
Written by ATLien
Straight from the A

A 28 year old beautician and former University of Memphis law student named Shanyna Isom has developed a condition that cannot be medically explained.

Isom has consulted several specialists, including a doctor in the Netherlands, but she still as no idea what is wrong with her.

“Black scabs were coming out of her skin,” said her mother, Kathy Gary.

“The nails would grow so long and come out and regrow themselves. They are hard to touch and stick you.”

Yes… you read right. Oddly enough fingernails have begun to grow from the hair follicles all over Isom’s body.

Isom’s disease has affected not only her skin, but her bones and her vision. The once vibrant single mother is now unable to walk without a cane, and her mother has to help her out of bed every day.

Doctors at Johns Hopkins Medical Center in Baltimore, where Isom is being treated, told her family that she is the only person in the world with this unknown condition.


And now she has $500,000 in unpaid medical bills. Isom has state insurance, but it doesn’t cover medical care in Maryland. Her mother lost her job as a medical receptionist because she looks after her daughter at home, so savings have dried up.

Friends and family of the young woman have organized fundraisers, and her high school has dedicated a football game to her charity. Bank of America has even agreed to take donations at any of their branch offices.

Despite her debilitating illness, Isom told ABCNews.com, “I don’t know whether to smile or cry. I am very blessed.”

Shayna also has a blog called Pray for Shanyna where she shares her thoughts and fears surrounding her illness:

It has taken all of my hair out and has left my body with scabs all over it, plus I have lost about 200 pounds.

Two years ago, I was a healthy woman on my own … had big dreams and goals that I was following until one day my body completely shut down on me.

According to WLBT in Memphis, Isom was a junior studying criminal justice when the mystery illness first occurred in September 2009.

Her doctors suspected that steroids she’d been subscribed for a previous asthma attack had caused an allergic reaction of some sort. However, after returning home, Isom began itching.

Doctors prescribed Benadryl, but it got worse.

“It was uncontrollable and we didn’t know what it was,” said her mother.

Soon, her legs turned black. “It looked as if she had been in a house fire and gotten burned.”

Doctors thought she had eczema or a staph infection and prescribed drugs, but it got worse. Meanwhile, all tests came back negative.

“We could not figure out what was going on,” said her mother. “She was just breaking out everywhere. Her body was scabbed all over.”

Today Isom is slowly improving but she is on at least 25 medications (her insurance only pays for five of them). She is currently awaiting the results of genetic tests that may give doctors clues to what is wrong.