First mutations in human life discovered

The earliest mutations of human life have been observed by researchers at the Wellcome Trust Sanger Institute and their collaborators. Analysing genomes from adult cells, the scientists could look back in time to reveal how each embryo developed.

Published in Nature today (22 March 2017) , the study shows that from the two-cell stage of the human embryo, one of these cells becomes more dominant than the other and leads to a higher proportion of the adult body.

A longstanding question for researchers has been what happens in the very early human development as this has proved impossible to study directly.  Now, researchers have analysed the whole-genome sequences of blood samples (collected from 279 individuals with breast cancer) and discovered 163 mutations that occurred very early in the embryonic development of those people.

Once identified, the researchers used mutations from the first, second and third divisions of the fertilized egg to calculate which proportion of adult cells resulted from each of the first two cells in the embryo. They found that these first two cells contribute differently to the whole body. One cell gives rise to about 70 per cent of the adult body tissues, whereas the other cell has a more minor contribution, leading to about 30 per cent of the tissues. This skewed contribution continues for some cells in the second and third generation too.

Originally pinpointed in normal blood cells from cancer patients, the researchers then looked for these mutations in cancer samples that had been surgically removed from the patients during treatment. Unlike normal tissues composed of multiple somatic cell clones, a cancer develops from one mutant cell. Therefore, each proposed embryonic mutation should either be present in all of the cancer cells in a tumor, or none of them. This proved to be the case, and by using these cancer samples, the researchers were able to validate that the mutations had originated during early development.

“This is the first time that anyone has seen where mutations arise in the very early human development. It is like finding a needle in a haystack.  There are just a handful of these mutations, compared with millions of inherited genetic variations, and finding them allowed us to track what happened during embryo-genesis.”

Dr Young Seok Ju, first author from the Sanger Institute and the Korea Advanced Institute of Science and Technology (KAIST)

“Having identified the mutations, we were able to use statistical analysis to better understand cell dynamics during embryo development. We determined the relative contribution of the first embryonic cells to the adult blood cell pool and found one dominant cell - that led to 70 per cent of the blood cells - and one minor cell. We also sequenced normal lymph and breast cells, and the results suggested that the dominant cell also contributes to these other tissues at a similar level. This opens an unprecedented window into the earliest stages of human development.”

Dr Inigo Martincorena, from the Sanger Institute

During this study, the researchers were also able to measure the rate of mutation in early human development for the first time, up to three generations of cell division. Previous researchers had estimated one mutation per cell division, but this study measured three mutations for each cell doubling, in every daughter cell.

Mutations during the development of the embryo occur by two processes – known as mutational signatures 1 and 5. These mutations are fairly randomly distributed through the genome, and the vast majority of them will not affect the developing embryo.  However, a mutation that occurs in an important gene can lead to disease such as developmental disorders.

“This is a significant step forward in widening the range of biological insights that can be extracted using genome sequences and mutations. Essentially, the mutations are archaeological traces of embryonic development left in our adult tissues, so if we can find and interpret them, we can understand human embryology better. This is just one early insight into human development, with hopefully many more to come in the future.”

Professor Sir Mike Stratton, lead author on the paper and Director of the Sanger Institute

Mammoth Resurrection

We all have heard stories about prehistoric animals, there were dinosaurs, saber tooth tigers, brontosaurus, Apatosaurus and many more... one of them were mammoths - large and heavy bags of fats, long ivory teeth and furry bodies made them huge and scary. we all know that elephants are successors of mammoths but we would never imagine if we could see them ever again because they were extinct even before elephants existed. so i have a great news for all you followers....

A Hybrid Of A Mammoth And An Elephant Could Be Created Within Two Years, Scientists Say...

Andrew Griffin   |  @_andrew_griffin 

Scientists might soon be able to create a hybrid embryo of an elephant and a woolly mammoth, they have said.The work would be an important step towards the controversial mission to completely resurrecting the long-extinct animal. That in turn could give rise to the rebirth of a range of creatures that have died out, with only their DNA needed to bring them back to life.

First, scientists hope to be able to create an embryo with features of a mammoth, such as shaggy long hair, thick layers of fat, and cold-adapted blood. Those would be combined with the DNA of an elephant. With years more work, that embryo could then potentially be used to grow into a living create, bringing the animal back to life. Eventually, scientists hope that they could nurture the embryo within an artificial womb. They have previously suggested implanting an embryo into an elephant – a move that has been criticised as cruel, since the animal would likely suffer or die during the procedure.

"Last woolly mammoths on Earth ‘killed off by lack of water’"

Since the project was started in 2015, researchers have been able to gradually add more edits into an elephant genome from 15 to 45. That means they can add more and more features from mammoth DNA, eventually moving towards a hybrid of the two.

Professor George Church, who heads the Harvard University team, said: “We’re working on ways to evaluate the impact of all these edits and basically trying to establish embryo-genesis in the lab.“The list of edits affects things that contribute to the success of elephants in cold environments." “We already know about ones to do with small ears, sub-cutaneous fat, hair and blood, but there are others that seem to be positively selected.” He added: “Our aim is to produce a hybrid elephant/mammoth embryo. Actually, it would be more like an elephant with a number of mammoth traits.

“We’re not there yet, but it could happen in a couple of years.”

The woolly mammoth roamed across Europe, Asia, Africa and North America during the last ice age. But it hasn’t been around on Earth for 4,500 years – after it was killed off probably as a result of climate change and being hunted into extinction – until now.

Scientists have become more and more excited about bringing the animal back because of revolutionary gene editing techniques that allow them to precisely select pieces of DNA and then re-insert them, despite the fact that specimens have been frozen in Siberian ice for thousands of years.

Source - Independent.co.uk

Release the Pressure !!!!

These Days, Exams are near and this makes parents extra curious about Their children whether they are studying or not. Even if they do study, they still do pressurize for marks and ranks and demotivate by frightening them with the future. By this small protective things a large pressure is built on the minds of children enabling them to take unwanted steps or be stressed resulting to bad results which particularly gives more stress.... So please motivate them to do by themselves, do not pressurize for marks and ranks, we all are proud children and we will do something for our lives and we promise won't let you down....

Now On Facebook !!!!

We are Now on Facebook & Instagram, do follow us and stay updated....

Instagram        Facebook         

                     

Dwarfism - By Smit Mehta

DWARFISM occurs when an individual person or animal is short in stature resulting from a medical condition caused by abnormal growth. In humans, dwarfism is sometimes defined as an adult height of less than 147 cm (4 feet 10 inches).

CAUSES

Dwarfism can be caused by any of more than 200 conditions. Causes of proportionate dwarfism include metabolic and hormonal disorders such as growth hormone deficiency.

The most common types of Dwarfism, known as skeletal dysplasias, are genetic. Skeletal dysplasias are conditions of abnormal bone growth that cause disproportionate dwarfism.
They include:

Achondroplasia- The most common form of dwarfism, achondroplasia occurs in about one out of 26,000 to 40,000 babies and is evident at birth. Other features are :-

• A large head with a prominent forehead
• A flattened bridge of the nose
• Forward curvature of the lower spine
• Bowed legs
• Flat short, broad feet

Spondyloepiphyseal dysplasias (SED)- A less common form of dwarfism, SED affects approx. one in 95,000 babies. Spondyloepiphyseal dysplasia refers to a group of conditions characterized by a shortened trunk,which may not become apparent until a child is between 5 and 10 years old.
Other features can include:

• Club feet
• Severe osteoarthritis in the hips
• Weak hands and feet
• Barrel-chested appearance 

Diastrophic dysplasia- A rare form of dwarfism, diatrophic dysplasia occurs in about one in 100,000 births. People who have it tend to have shortened forearms and calves (this is known as mesomelic shortening).
Other signs include:

• Deformed hands & feet.
• Limited range of motion
• Cleft palate
• Ears with cauliflower appearance

SYMPTOMS 

There are more than 200 various medical conditions associated with dwarfism. Generally, dwarfism is categorized in disproportionate and proportionate.

Proportionate dwarfism- This condition is due to certain congenital medical conditions and conditions during childhood. It restricts overall growth & development. Some disorders causing proportionate dwarfism can result in mental retardation. A deficiency of growth hormone, is most most common cause of this type.
Signs of the symptoms of dwarfism are:-

• Slow growth before age of 5.
• Period of little or no change in height.
• Height below the 5th percentile on standard pediatric growth charts.
• Delayed or not at all sexual development during adolescence
• Adult height usually less than 5 ft.

Turner Syndrome can also cause proportionate dwarfism. This disorder causes short stature & impaired maturation in women. Sign & Symptoms of this disorder are:

• An adult of average height of 4 feet 8 inches.
• Puffy hands & feet at birth and during infancy.
• Excess skin at the neck at birth.
• Kidney problems.
• Detect of heart & blood vessels.

Disproportionate dwarfism- People with disproportionate dwarfism have an average size trunk & very short arms. Some may have a very short trunk & small but disproportionately arms. Their head is larger than the body. Almost all people with disproportionate dwarfism possess normal intellectual capacities. In about 70% cases, achondroplasia is the main cause.
Some of the Symptoms of this disease are:

• An adult of average height of about 4 feet.
• Short arms & legs, especially upper arms & legs.
• An average size trunk.

A disorder known as Spondyloepiphyseal dysplasia congenita(SEDC) is one of the most common causes of disproportionate dwarfism.
Signs & symptoms of this disease are:

• An adult of height ranging from 3 feet to just above 4 feet.
• A short neck.
• Slightly flattened cheekbones.
• Short arms & legs.
• Hip deformities, due to which thigh bones turn inwards.
• Progressive hunching curvature of upper spine.

TREATMENT

Early diagnosis and treatment can help prevent or lessen some of the problems associated with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone. In many cases, people with dwarfism have orthopedic or medical complications. Treatment of these can include:

• Insertion of a shunt to drain excess fluid & relieve pressure on the brain.

• A tracheotomy to improve breathing through small airways.

• Corrective surgeries for deformities such as cleft palate, club foot, or bowed legs.

• Surgery to remove tonsils or adenoids to improve breathing problems related to large tonsils, small facial structures.

• Surgery to widen the spinal canal (the opening through which the spinal cord passes) to relieve spinal cord compression.

By Smit Mehta

Facebook

Instagram

Smore

INTRODUCING THE LOGO.....

As we told you, we would try to enhance the user interface and better viewership, we designed the new logo for the blog and social pages which are yet under construction.....

so here's logo

The Logo defines caring and importance of health....
The heart in black defines equality and health.

Can Changing When And What We Eat Help Outwit Disease ???

I was worried that I might not be able to stick to an intermittent fasting schedule during my vacation in Mexico. It turns out, it was a breeze.

Because I was sick.

It started on the plane ride to Cozumel, a tingle in my throat and then the telltale sign that illness was imminent: three sneezes in a row. A clogged nose, a slight fever and a general feeling of malaise came over me after my third dive into the electric blue waters of the Caribbean.

I'm participating in a preliminary study at Johns Hopkins Medicine on the effects of intermittent fasting on the microbiome and inflammation in people with multiple sclerosis. For the six-month study, I'm restricted to eating during an eight-hour period, usually from noon until 8 p.m. That meant that the first day of vacation, my first meal was pretzels on a plane, my second was ceviche and nachos in the late afternoon.

I'm Fasting For Science: Will It Help Tame My Multiple Sclerosis?
SHOTS - HEALTH NEWS
I'm Fasting For Science: Will It Help Tame My Multiple Sclerosis?
It wasn't a great combination, but I had a feeling that as my nose continued to clog, I wouldn't be able to taste much, so I went for variety. As the week went on, I tried not to let my inability to taste hamper the experience, but it was hard. Tacos tasted like rubber, plantains like Elmer's glue. And though I squealed in delight when I saw a churros cart, the deep-fried, buttery, cinnamon-sugary treats tasted more like cardboard covered in sawdust.

My vacation was headed toward gastronomic disaster, but at least the study data would not be compromised.

At the end of the six months, researchers will be looking at the state of my microbiome, via a stool sample, to determine how it may have changed. Or to be precise, my microbiota, according to Jorge Cervantes, an assistant professor of microbiology at the Texas Tech University Health Sciences Center, El Paso who has studied the microbiome in relation to several diseases, including MS. I called him to get up to speed on my microbiota.

I can't keep this vacation eating up for much longer. If I wasn't sick, I probably would've gained 20 lbs by now. 
"The microbiota is all the microorganisms living in a specific niche," he says. That niche being my gut. "We talk about bacteria, mainly, but there are also viruses and fungi."

The microbiome is the whole ecosystem — the bacteria, viruses, fungi, as well as the environmental conditions they inhabit.

Our resident bacteria serve us in three basic ways, says Cervantes, who is not involved in the study I'm doing. They occupy space and help restrict the overgrowth of bad bacteria. And they can help our metabolism by facilitating the breakdown of certain molecules.

Gut bacteria are of special interest to people with autoimmune diseases, including multiple sclerosis, irritable bowel syndrome and Crohn's disease, because they help in the training and development of our immune systems.

That's so that your immune system can sample a molecule and and tell, "'Oh this is bacteria,' or 'Oh, this is a virus.' " Cervantes explains. If the molecule might cause harm, an immune response is triggered.

Once an immune cell locates a potentially harmful molecule — say, from the bacteria Streptococcus, or whatever I caught on the plane to Mexico — it sends out a call to other immune cells so they can help control the invasion, Cervantes says. That process creates inflammation, which can involve pain, stinging, swelling or a host of other unpleasant symptoms that ordinarily mean your body is fighting the good fight to help you heal.

"Sometimes," Cervantes said, "the immune cells get confused." And here's where our microbes can affect autoimmune diseases such as MS, in which the body's immune system fires up at the wrong times: bacteria can be the trigger for this confusion. An immune cell can mistake good bacteria for bad bacteria, and that confusion can lead to an immune response when there's no real threat to a person's health.

Scientists are not only studying microbiota and their relationship to autoimmune diseases, they're studying their roles in hypertension, cancer, even mental health disorders.

Research in many of these areas is new and exciting and full of potential — and faces challenges, one being the difficulty of teasing out cause and effect. Does a change in the volume and/or variety of a microbiota lead to disease? Does the disease change the microbiota, leading to other health changes?

"The thing is, no one knows what is first, the egg or the chicken," Cervantes says.

To answer that question, scientists have been turning to mice. Not just any mice, these rodents are squeaky-clean, entirely germ-free. According to a review published in 2015 in Microbial Ecology in Health and Disease, germ-free mice are less likely to have inflammatory bowel disease, autoimmune arthritis, Type 1 diabetes and other autoimmune diseases. And when they do have them, the symptoms are less severe.

This, the authors say, is consistent with the idea that the microbiota could be a trigger for these diseases. Good news, right? But they go on to say that attempts to identify exactly which organisms could be causing these diseases have failed.

And even if we can agree that we want a "healthy" gut microbiome, what does that mean? "There is no ideal," Cervantes says. "The point is that the microbiome is not a fixed entity." It changes over time and is different from person to person.

And so it seems we've added a third variable to the already complex interplay of genetics and the environment when considering health and disease.

I'm pleased to report that my immune system, while it may be overactive, also does its job once in a while, fighting back the infection as I hunkered down in my hotel room in Mexico.

While I recuperated, I read through comments on the first article I wrote about my experiences with this study. People shared their own attempts to tweak their diets as means to ease suffering from a host of diseases. I also read a lot of criticism about my diet:

However, what she is eating are not anti-inflammatory foods at all! Why not start there and give the body more of a fighting chance than to eat the SAD (standard American diet)
less ice cream & tacos.

Many people with MS do have foods that they know don't sit well with them; for me, one is pizza. Delicious pizza. After a few slices my hands and feet burn and I typically fall asleep within the hour. To be honest, my body isn't a fan of ice cream, either. And I can't say I felt great after that ramen.

Halfway into the study, and I haven't felt much better overall. The first thing I do when I get home from work every day is still nap. I still grab my trusty ice pack from the freezer about once a week and clutch it for the soothing effect it has on my hands, and occasionally my feet. Don't worry; I wash it!

So OK, maybe the commenters are on to something. It stands to reason that if when you eat can have a drastic impact on the microorganisms in your gut, then certainly what you eat must be important, too, right?

"By all means," Cervantes said.

My study isn't looking at the effect of particular foods on MS symptoms. But I must admit I've been eating much worse since the study began. Come noon, I am so focused on food that I inhale everything in sight, then forage for more.

One co-worker frequently reminds us via email that he has Hershey's Kisses in his office. Another introduced me to Peanut Chews — she kindly always has a pack waiting for me in her desk drawer. The convenience store downstairs has granola bars for 75 cents! (And french fries for $1.50.)

Most days I eat my typically healthy lunch (some haphazard mix of vegetables topped with last night's dinner protein) and before I've finished chewing the last bite, before I can rationally asses the state of my hunger, I'm out of my office looking for another food fix.

There's another reason I've continued to eat like a madwoman during these past three months. Over the past year, I've deliberately lost a good amount of weight. Let's call it 35 pounds. Despite my unhealthy recent eating habits, believe it or not, I did it through an overhaul in my diet, cutting out most simple carbs and eating more vegetables and trading fat for muscle mass.

And like so many women, I do still reflexively judge how healthy I am in part by how much I weigh. I lost a few pounds when I began the study, and no matter how much ice cream I shovel into my face, I haven't gained any of it back.

I'm no doctor, but I'm fairly certain that just because my weight is stable, that doesn't mean I'm on a path to perfect health or a flourishing microbiome.

And so for the second half of the study, I have resigned myself to a crazy idea, getting back to eating like a responsible human being. A person who cares about the well-being of the ecosystem I'm hosting: the bacteria, viruses and other little guys who call my gut home.

Farewell, Peanut Chews. :)


Source :- Internet