Research

New genetic marker to predict bird flu severity

Australian scientists Tuesday said they have discovered a genetic marker that can accurately predict the severity of the H7N9 avian influenza.

Researchers at the University of Melbourne claimed that by using genetic markers to blood and lung samples, they discovered certain indicators that signal increased susceptibility to this avian influenza, a statement said.

Katherine Kedzierska, associate professor at the department of microbiology and immunology at the university, said that being able to predict which patient will be more susceptible to the emerging avian influenza strain will allow experts to better manage the disease.

“Higher than normal levels of cytokines (a type of protein), driven by a genetic variant of a protein called IFITM3, tells us that the severe disease is likely,” Kedzierska said.

“We call this a Cytokine Storm and people with the defective genetic variant of the protein IFITM3 are more likely to succumb to severe influenza infection,” she added.

Peter Doherty, a lead author of the study, said predicting how avian influenza works in individuals has implications for the management of disease and the resources on our health system.

Source: Business Standard

Gene involved in response to cocaine identified

Scientists, led by an Indian-origin researcher, have identified a gene that may determine the intensity of our response to cocaine.

Researchers at the University of Texas Southwestern suspect that the newly identified gene, Cyfip2, determines how mammals respond to cocaine, although it is too soon to tell what the indications are for humans or for addiction.

The findings evolved from examining the genetic differences between two substrains of the standard C57BL/6 mouse strain: a ‘J’ strain from the Jackson Laboratory (C57BL/6J) in US and an ‘N’ strain from the National Institutes of Health (C57BL/6N).

The study, with Dr Vivek Kumar as the lead author, compared the two strains of mice and used their differential responses to cocaine to identify the causative gene.

“We found that the ‘N’ strain has accumulated mutations over time, one of which has a very strong effect on cocaine response,” said Dr Joseph Takahashi, chair of neuroscience and a Howard Hughes Medical Institute investigator at UT Southwestern and the senior author of the study.

“We propose that CYFIP2 – the protein produced by the Cyfip2 gene – is a key regulator of cocaine response in mammals,” he said.

“We identified this gene by first using a forward genetics strategy to search for differences in traits between the two mouse strains. We found a difference in cocaine response between them, with the C57BL/6N strain showing a reduced behavioural response,” Takahashi said.

“We then carried out genetic mapping and whole genome sequencing, which allowed us to pinpoint the Cyfip2 gene as the causative one in a rapid and unambiguous way,” he added.

The study was published in the journal Science.

Source: Deccan chronicle

India launches its indigenous cervical cancer screening device

India launched its first indigenously developed device for screening and early detection of cervical cancer, which kills over 74,000 women in the country every year.

Launching the low-cost “AV-Magnivisualiser” device developed by Indian Council of Medical Research (ICMR), Union Minister of Health and Family Welfare Ghulam Nabi Azad said it will help in early detection of cervical cancer among adolescent girls and women, thus helping in save many lives.

Designed and developed at Institute of Cytology and Preventive Oncology ( ICPO), Noida, working under ICMR, the device will cost about Rs 10,000 and is much lower as compared to the cervical cytology method used at present in medical colleges, the equipment of which costs over Rs eight lakh.

“I am extremely happy and I congratulate the scientists involved in the cutting-edge level. I hope the cost-effective device will be available in the market in the next eight months to help ensure ..

The Minister said with this device it will be easy to screen and detect cervical cancer in its early stages, thus making treatment more effective.

“We will also ensure proper training of nurses and manpower for using the device in the coming months,” he said, adding that screening for cervical cancer is available only in regional cancer institutes and medical colleges at present.

He said the equipment presently being used is expensive, as a result of which not many medical coll ..

Source: Economic Times

Packaging insulin into a pill-friendly form for diabetes treatment

Since insulin’s crucial discovery nearly a century ago, countless diabetes patients have had to inject themselves with the life-saving medicine. Now scientists from the National Institute of Pharmaceutical Education and Research (NIPER), Mohali, Punjab, India are reporting a new development toward a long-sought insulin pill that could save millions the pain of daily shots.

Published in the American Chemical Society (ACS) journal Biomacromolecules, the advance could someday not only eliminate the “ouch” factor, but also get needle-wary — and weary — patients to take their medicine when they should.

Sanyog Jain, assistant professor, centre for pharmaceutical nanotechnology, department of pharmaceutics, NIPER and colleagues explain that patients with diabetes sometimes skip doses or stop taking their insulin because the injections can be painful. But doing so puts their health in danger.

An estimated 347 million people globally (about 26 million in the US) are living with diabetes. In the US, more than a quarter of these patients are taking some kind of insulin therapy.

For years, researchers have sought a way to transform delivery of this therapy from a shot to a pill, but it has been a challenge. The body’s digestive enzymes that are so good at breaking down food also break down insulin before it can get to work. In addition, insulin doesn’t get easily absorbed through the gut into the bloodstream. To overcome these hurdles, Jain’s team combined two approaches to shield insulin from the digestive enzymes and then get it into the blood.

The researchers packaged insulin in tiny sacs made of lipids, or fats, called liposomes, which are already used in some treatments. Then, they wrapped the liposomes in layers of protective molecules called polyelectrolytes. To help these “layersomes” get absorbed into the bloodstream, they attached folic acid, a kind of vitamin B that has been shown to help transport liposomes across the intestinal wall into the blood. In rats, the delivery system lowered blood glucose levels almost as much as injected insulin, though the effects of the layersomes lasted longer than that of injected insulin.

The authors acknowledge funding from the Department of Science and Technology (India) and the Council of Scientific and Industrial Research, New Delhi.
Source: India medical Times

New tech may boost success rate of IVF

 

Scientists have developed a safe, accurate and low-cost method to select genetically normal embryos for the IVF procedure, increasing a couple’s chance of producing a healthy child.

Through whole-genome sequencing of individual egg cells, the new method detects chromosomal abnormalities and DNA sequence variations associated with genetic disorders.

“Theoretically, if this works perfectly, we will be able to double the success rate of test-tube baby technology from 30 per cent to 60 per cent or even more,” said study author Dr Jie Qiao, Chief Physician and head of the Department of Obstetrics and Gynecology at Peking University Third Hospital in Beijing.

The in vitro fertilisation (IVF) procedure involves joining a woman’s egg and a man’s sperm in a laboratory dish and then transferring embryos into the woman’s womb.

Various procedures are currently available to detect genetic defects in embryos prior to implantation, but these approaches are often invasive, requiring the removal of cells from the growing embryo, and do not simultaneously detect both chromosomal abnormalities and DNA sequence variations associated with genetic disorders.

Researchers have recently developed whole-genome sequencing methods to simultaneously detect both types of defects in single human sperm cells, but until now, an analogous approach had not been applied to egg cells, even though chromosomal abnormalities are much more common in egg cells than in sperm cells.

In the new study, Dr Sunney Xie of Peking and Harvard universities teamed up with Qiao and Dr Fuchou Tang of Peking University to develop a method for sequencing the entire genomes of polar bodies – cells that arise as a byproduct of egg cell division and often die later on.

Because polar bodies are dispensable for human embryonic development, they can be safely removed without harming the embryo.

“We are now starting a clinical trial based on this approach. If the clinical trial works, this technique could enormously increase the success rate of IVF, especially for older women or women who have had recurrent miscarriages,” Xie said.

The study was published in the journal Cell.

Source: Times of India

New gene linked to cleft lip and palate syndrome identified

An international team of researchers has identified a new gene related to the Van der Woude syndrome, the most common syndrome with cleft lip and palate.

The study by researchers from Karolinska Institutet in Sweden can lead the way to improved genetic diagnostic of individuals and families with orofacial clefts.

Cleft lip and palate is one of the most common birth defects and can be found in the form of cleft lip or cleft palate alone; or cleft lip and palate together.

Now, through an international collaboration between researchers from Sweden, USA, Finland and Israel, a second gene related to VWS has been found.

The researchers started by doing a so called genetic linkage study of a large family from Finland. The family had been diagnosed with VWS, albeit no IRF6 mutations had been found.

By comparing the DNA of affected individuals with DNA from healthy family members, the researchers identified another gene, called Grainy-head like 3 (GRHL3), which was mutated only in the affected family members.

The same gene was found to be altered in 7 additional families with VWS where no IRF6 mutations had been found previously

“The discovery of a new gene, GRHL3, responsible for the most common of the syndromic forms of cleft lip and palate means that researcher or clinicians with collections of families or isolated cases with cleft lip and palate, syndromic or non-syndromic, now will be able to look for mutations in this gene,” lead researcher Myriam Peyrard-Janvid said

“As it has been shown for IRF6, one or several polymorphisms in GRHL3 might be found to be associated with increased risk of clefts in non-syndromic cases,” Peyrard-Janvid added

The study is published in the American Journal of Human.

Source: DNA India

Fetal stem cell grafts successfully help brittle-bone babies

In an international collaboration, researchers from Sweden, Singapore and Taiwan successfully treated two babies with a congenital bone disease that causes stunted growth and repeated fracturing by injecting them in utero with bone-forming stem cells.

Results of their longitudinal study have been published in the journal Stem Cells Translational Medicine.

Osteogenesis imperfecta (OI) not only stunts the growth of those who suffer from this disease, but the repeated fractures it causes are painful.

However, this condition can be recognized prenatally with an ultrasound, so researchers from the Karolinska Institutet in Sweden published a paper in 2005 detailing how mesenchymal stem cells – connective tissue cells that form and improve bone tissue – were given to a female fetus in Sweden.

These stem cells were taken from the livers of donors, and the researchers note that though the donors and recipients were not genetically matched, there was no rejection.

In this recent study, the team explains how the girl experienced several fractures and had scoliosis by age 8. At this point, the researchers gave her a fresh stem cell graft from the same donor as before.

For the following 2 years, the child did not experience any new fractures and her growth rate improved. Today, the researchers say, she participates in dance lessons and gym class at school.

‘International effort needed’ for this rare disease
The team from Karolinska Institutet, along with colleagues in Singapore, detail how they gave another baby girl from Taiwan – who was shown prenatally to have OI – stem cell transplantation in utero.

The girl experienced a normal, fracture-free rate of growth until she was 1-year-old, at which point the team gave her a fresh stem cell treatment.

Her normal growth resumed, the team says, and now, at the age of 4, she is able to walk normally and has not experienced any new fractures.

“We believe that the stem cells have helped to relieve the disease since none of the children broke bones for a period following the grafts, and both increased their growth rate,” says study leader Dr. Cecilia Götherström, from Karolinska Institutet.

She adds:

“Today, the children are doing much better than if the transplantations had not been given. OI is a very rare disease and lacks effective treatment, and a combined international effort is needed to examine whether stem cell grafts can alleviate the disease.”
The team says they identified a male patient from Canada who was born with OI, which was caused by the exact same mutation that the girl from Sweden had.

Born with severe widespread bone damage, this boy was not given stem cell therapy like the girls were, and he experienced numerous fractures and kyphosis of the thoracic vertebrae – a condition that causes an extreme curvature of the spine, impairing breathing.

The untreated boy died within his first 5 months from pneumonia, the investigators say.

Although the researchers say their findings suggest the stem cell therapy treatment “appears safe and is of likely clinical benefit,” they add that “the limited experience to date means that it is not possible to be conclusive and that further studies are required.”

When asked what kind of research she and her team are planning for the future, Dr. Götherström told Medical News Today:

“We are presently transplanting stem cells to one patient once a year for 4 years to investigate the effects of repeated infusions.

Also, we wish to include more patients with severe OI to be transplanted in the future, which will require joint international efforts and financial resources.”

The study was funded by a grant from the Swedish Society for Medical Research.

Neuroscientists Print ‘Cells from The Eye’ Using An Inkjet Printer

An inkjet printer was used by neuroscientists to print cells from the eye. This forms a practical step in the quest to grow replenishment tissue for damaged or diseased organs.

Researchers at England’s University of Cambridge extracted two types of cells from rat retinas and sent them through a printer nozzle to see if they survived.

The cells remained healthy after being “printed,” retaining their ability to survive and grow in culture, they reported in the British journal Biofabrication.

Three-dimensional printing is one of the new frontiers in engineering.

In that field, liquid or powdered polymers are substituted for ink. Sprayed in layers, the plastic forms a 3-D shape — a boon for designers or exporters, for example, who want to show off a model of their product.

But biotechnologists are also interested in printing, given the potential it offers for building artificial tissue in layers.

This is the first time that the technology has been used to successfully print mature cells from the central nervous system, the scientists said. They cautioned, however, that much work lay ahead.

The co-authors, Keith Martin and Barbara Lorber of the university’s John van Geest Centre for Brain Repair, said the hope was one day to build retinal tissue for people suffering from degenerative diseases of the eye.

“The loss of nerve cells in the retina is a feature of many blinding eye diseases,” they said in a press release.

“The retina is an exquisitely organised structure, where the precise arrangement of cells in relation to one another is critical for effective visual function.”

The team used a piezoelectric inkjet printer head, which expelled so-called glia cells and retinal ganglion cells from adult lab rats through a single nozzle less than one millimetre (0.04 of an inch) across.

The feat is important, because inkjet fluid has a narrow margin of error in terms of viscosity and surface tension. Adding cells to the liquid “complicates its properties significantly,” said inkjet engineer Wen-Kai Hsiao.

The only hitch was a large loss in the number of cells through sedimentation, meaning that they tended to sink to the bottom of the fluid reservoir and could not be printed.

But the cells that were printed were undamaged and sound. The delicate cellular membranes survived, despite the high speed at which they were ejected.

The next steps will be to see if other retinal cells, including light-sensitive photoreceptors, can be successfully printed and experiment with commercial print heads, which use multiple nozzles.

Source: Med India

Ancient hand bone dates origins of human dexterity

The discovery of an ancient bone at a burial site in Kenya puts the origin of human hand dexterity more than half a million years earlier than previously thought.

In all ways, the bone – a well-preserved metacarpal that connects to the middle finger – resembles that of modern man, PNAS journal reports.

It is the earliest fossilised evidence of when humans developed a strong enough grip to start using tools.

Apes lack the same anatomical features.

The 1.42 million-year-old metacarpal from an ancient hominin displays a styloid process, a distinctively human morphological feature associated with enhanced hand function.

Its discovery provides evidence for the evolution of the modern human hand more than 600,000 years earlier than previously documented and probably in the times of the genus Homo erectussensu lato.

The styloid process helps the hand bone lock into the wrist bones, allowing for greater amounts of pressure to be applied to the wrist and hand from a grasping thumb and fingers.

bones
The styloid process can be clearly seen in the Kaitio bone
Prof Carol Ward and her colleagues note that a lack of the styloid process created challenges for apes and earlier humans when they attempted to make and use tools.

This lack of a styloid process may have increased the chances of having arthritis earlier.

Prof Ward, professor of pathology and anatomical sciences at the University of Missouri, Columbia, said: “The styloid process reflects an increased dexterity that allowed early human species to use powerful yet precise grips when manipulating objects.

“This was something that their predecessors couldn’t do as well due to the lack of this styloid process and its associated anatomy.

“With this discovery, we are closing the gap on the evolutionary history of the human hand. This may not be the first appearance of the modern human hand, but we believe that it is close to the origin, given that we do not see this anatomy in any human fossils older than 1.8 million years.

“Our specialised, dexterous hands have been with us for most of the evolutionary history of our genus, Homo. They are – and have been for almost 1.5 million years – fundamental to our survival,” she said.

The bone was found at the Kaitio site in West Turkana, near an area where the earliest Acheulian tools have appeared. Acheulian tools are ancient, shaped stone tools that include stone hand axes more than 1.6 million years old.

Diabetes Drug Won’t Help Obese Kids Keep Off Weight

Few children who become obese are able to lose and keep off weight with diet and exercise alone, leading some doctors to prescribe drugs, such as the diabetes drug metformin, to treat childhood obesity. However, a new study suggests that metformin may not help kids and teens without diabetes lose weight over the long term.

The study, which reviewed information from previous research, found no evidence that children and teens who took the drug lost more weight after one year than those who did not take the drug.

While some adolescents who took the drug did experience short-term weight loss (six months or less), the effect was modest, and it’s not clear whether such limited weight loss would actually improve their health, the researchers said. [Lose Weight Smartly: 7 Little-Known Tricks That Shave Pounds]

Given the current evidence, metformin has not been shown to be superior to other weight-loss treatments for kids, such as diet and exercise, the researchers said.

“Unfortunately, this drug is not going to be the answer,” said study researcher Marian McDonagh, of Oregon Health & Science University. Overall, the drug does not appear to provide enough weight reduction for children to experience meaningful health benefits in the long term, McDonagh said.

Still, it’s possible that certain groups of children, such as those who are very obese, may benefit from taking the drug. A large study is needed to identify these groups, the researchers said.

The study analyzed information from 14 previous studies (eight in the United States and others in Canada, Australia, Mexico, Europe, Iran and Turkey), which included a total of 946 children ages 10 to 16 who did not have diabetes. The children’s body mass indices (BMIs) ranged from 26 to 41. In most studies, children who took metformin also engaged in lifestyle changes aimed at helping them lose weight.

On average, children who took metformin for six months achieved a 3.6 percent greater reduction in their BMI compared with those who practiced lifestyle changes alone.

However, studies in adults suggest that, in order for a weight-loss treatment to lead to meaningful improvements in health down the road, it needs to reduce BMI by 5 to 10 percent, McDonagh said.

Children in the studies who took metformin for a year saw about the same decrease in BMI as those who practiced lifestyle changes alone. And after one year, both groups started to slip back to their original weight.

The researchers would like to see more studies on weight-loss treatments that involve a child’s entire family. It’s possible that family-based interventions may help children lose more weight — whether they are taking a drug or not — than interventions that don’t consider the child’s family, McDonagh said.

Metformin is approved by the Food and Drug Administration to treat children and adults with Type 2 diabetes.

Source: Fresh news