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Four new genetic diseases within schizophrenia identified

New York, April 29 (IANS) Researchers have identified four previously unknown genetic diseases that can be brought under the umbrella diagnosis of schizophrenia.

Cases associated with changes in each of the four genes were different from each other in terms of symptoms, intelligence level and other disease features, the researchers said.

"A common fallacy is that schizophrenia can be treated as a single disease," explained lead study author Dolores Malaspina from NYU Langone Medical Centre in New York.

"Our biologically driven study begins to answer longstanding questions in the field about why any two people diagnosed with schizophrenia may have drastically different symptoms. For the first time, we have defined four syndromes mechanistically,” Malaspina noted.

Patients with schizophrenia struggle to interpret reality, typically suffering from hallucinations, learning disabilities, emotional withdrawal and lack of motivation. 

In the current study, researchers analysed 48 ethnically diverse patients diagnosed with schizophrenia, looking at symptom sets in patients found to have rare or previously unknown changes in the DNA code of the four genes that disrupted brain function.

The four influential genes now tied by the study to specific conditions are all involved in the growth or regulation of nerve circuits. 

"Our results argue that new treatments should -- while addressing core psychoses -- also focus on processing speed in TGM5 cases, working memory in PTPRG, zinc augmentation in SLC39A13, and nerve cell protection in patients with ARMS/KIDINS220 mutations," first study author Thorsten Kranz, postdoctoral fellow at NYU Langone, said.

The findings appeared online in the journal EbioMedicine.

"Perhaps as many as 30 percent of schizophrenic patients may now become candidates for more precise treatment based on the individual characteristics of these four genes, with the remaining cases becoming less mysterious as we pull these groups out of the mix," Malaspina said.​

Brazilian researchers use nanofibre to fight Alzheimer's

Brasilia, March 28 (IANS) Brazilian researchers have improved delivery of a medication to fight Alzheimer's by using a nanofibre to regulate the compound's release, the media reported on Monday.

The project is being led by doctoral student Geisa Salles and professor Anderson Lobo, coordinator of Vale do Paraiba University's Research and Development Institute in Sao Jose dos Campos.

"We developed this nanomaterial that contains the drug for the treatment of Alzheimer's and we already tested it in vitro with cells mimicking the disease's behaviour. The results have been quite promising, and we believe we could make a great contribution in the treatment of this chronic pathology," Salles told Efe news.

The process, called nanotreatment, depends on a combination of polymers and proteins in nanomaterials to make a fibre that, once implanted under the skin, releases the medication into the blood stream continuously for quick and lasting absorption.

The fibre - 800 nanometers thick and almost invisible to the human eye - is filled with a medication imported from Britain.

The electro-wiring technique, in which a needle with the drug receives energy and light to release bits of the fibre, is used to make the nanodevice for implanting in patients.

In the laboratory, the technique adds a second efficiency testing phase that may extend the drug's duration by 30 percent.

"Hypothetically, it would be like a patch to stop smoking, but we still need more research to determine how to use it, and in which stage of Alzheimer's disease we should start fighting the action of amyloid beta, the protein, or peptide, found in the brains of patients with the disease," Lobo added.​

Greenland melting linked to shrinking Arctic sea ice

New York, March 28 (IANS) The disappearance of Arctic Sea ice due to massive climate change is causing the surface of Greenland's melt area to increase, thereby fuelling a steep rise in the sea-level, finds a study.

During summers, melting Arctic Sea ice favours stronger and more frequent "blocking-high" pressure systems.

The high pressure tends to enhance the flow of warm, moist air over Greenland, contributing to an increased extreme heat events and surface ice melting, which in turn fuels sea-level rise, a monstrous issue for coastal communities around the world. 

"Whenever there's a big melt year in Greenland, on the surface anyway, it's usually because there's either a blocking high or a large northward swing in the jet stream and both of those things tend to be long-lived features in the circulation," said one of the researchers, Jennifer Francis, professor at Rutgers University in New Jersey, US. 

Both transport a lot of heat, moisture and clouds over the Greenland ice sheet, leading to more melting, the researchers pointed out.

The study was published online in the Journal of Climate. 

The Greenland ice sheet holds an enormous volume of frozen water, and the global sea level would rise about 20 to 23 feet if it all melted. Surface melting of the ice sheet has increased dramatically since the relative stability and modest snow accumulation in the 1970s, the study said.

Sea-level rise is already "becoming very conspicuous and it's going to be bad. It's happening faster and faster," Francis said adding that the change is accelerating.​

Brain injury linked to stiffened arteries

New York, March 29 (IANS) Individuals who suffer from stiffening of the arteries and are in their 40s may experience subtle and structural damages in their brains, finds a new study.

The condition is also likely to advance towards cognitive decline and Alzheimer's disease later in life.

The findings showed that among young healthy adults, higher aortic "stiffness" was associated with reduced white matter volume and decreased integrity of the gray matter, and in ages much younger than previously described.

"This study shows for the first time that increasing arterial stiffness is detrimental to the brain, and that increasing stiffness and brain injury begin in early middle life, before we commonly think of prevalent diseases such as atherosclerosis, coronary artery disease or stroke having an impact," said lead author of the study Pauline Maillard, from University of California, Davis in the US.

The study, published online in the American Heart Association journal Stroke, also noted that elevated arterial stiffness is the earliest manifestation of systolic hypertension and added that the results may be a new avenue of treatment to sustain brain health.

"Measures of arterial stiffness may actually be a better measure of vascular health, and should be identified, treated and monitored throughout the lifespan," Maillard said.

The large study involved approximately 1,900 diverse participants in the Framingham Heart Study in the US, who underwent brain magnetic resonance imaging (MRI), as well as arterial tonometry.

The tests measured the force of arterial blood flow, the carotid femoral pulse wave velocity or CFPWV -- the reference standard for noninvasive measurement of aortic stiffness -- and its association with subtle injury to the brain's white and gray matter. 

The research found that increased CFPWV was associated with greater injury to the brain.

However, with age high blood pressure causes the arteries to stiffen, further increasing blood pressure as well as increasing calcium and collagen deposits, which promotes atrophy, inflammation and further stiffening, decreasing blood flow to vital organs including the brain and promoting brain atrophy.

The study emphasises the need for primary and secondary prevention of vascular stiffness and remodelling as a way to protect brain health, early in life, the researchers concluded​

How human body ages?

Tokyo, March 29 (IANS) Japanese researchers have discovered metabolites that are specifically related to aging and shed light on how the human body ages.

Metabolites, substances that are created during metabolism, can provide a wealth of information about an individual's health, disease, diet, and life-style. 

The results of the study identified some metabolites in the blood that increased or decreased in the older adults.

The researchers found 14 age-related metabolites. Half of these decreased in elderly people and the other half increased.

Antioxidants and metabolites related to muscle strength decreased in the elderly, whereas metabolites related to declining kidney and liver function increased.

"Of the 14 compounds, half of the them had decreased in elderly people. The decrease was found in antioxidants and in compounds related to muscle strength. Therefore, elderly people had less antioxidants and less muscle strength," said lead researcher Yanagida, professor at Okinawa Institute of Science and Technology Graduate University (OIST) in Japan.

In addition, some of the age-related metabolites found on the same metabolic pathways have connected changes, which suggests that age affects them simultaneously.

"Functionally related compounds show the same tendencies to increase or decrease with age, or in other words, they show similar correlations," Yanagida noted, in the study published in the journal PNAS.

The decline in antioxidants and muscle strength suggest that it is important for individuals to consume foods high in antioxidants and to continue exercising, especially after the age of 65. 

This could help increase the levels of the related metabolites in the body and improve body conditions, the researchers stressed. 

"Longevity is a great mystery for us...We want to find how elderly people can live a happy final stage of life. This is the way we can contribute to human health," Yanagida maintained.

To find and analyse the metabolites, the team obtained blood samples, including red blood cells (RBCs), from 30 healthy individuals: 15 young adults and 15 older adults. 

Then, they used Liquid Chromatography-Mass Spectrometry (LC-MS), a technique that separates liquids and detects substances, to identify the metabolites within the blood. 

From there, they could calculate the coefficients of variation, or the standard deviation of metabolite abundance divided by the average, to identify which compounds had increased or decreased in the older adults.​

Scientists decode eruptions on icy moon of Saturn

New York, March 29 (IANS) Unlocking the mystery behind eruptions on the icy moon of Saturn, scientists from the University of Chicago and Princeton University have revealed a mechanism by which cyclical tidal stresses exerted by Saturn drive Enceladus's long-lived eruptions.

The moon Enceladus -- 500 km in diameter and 1.272 billion km away from the Earth -- serves as a leading candidate for extra-terrestrial life. 

The data from NASA's Cassini probe has strongly indicated that the cryovolcanic plumes of Enceladus probably originate in a biomolecule-friendly oceanic environment.

“On Earth, eruptions don't tend to continue for long. When you do see eruptions that continue for a long time, they'll be localised into a few pipelike eruptions with wide spacing between them,” said Edwin Kite, assistant professor of geophysical sciences at UChicago.

But Enceladus, which probably has an ocean underlying its icy surface, has somehow managed to sprout multiple fissures along its south pole. 

These “tiger stripes” have been erupting vapour and tiny frost particles continuously along their entire length for decades and probably much longer.

What's needed is an energy source to balance the evaporative cooling. 

“We think the energy source is a new mechanism of tidal dissipation that had not been previously considered," Kite added in a paper appeared in the journal the Proceedings of the National Academy of Sciences.

Cryovolcanism may also have shaped the surface of Europa, one of Jupiter's moons. 

"Europa's surface has many similarities to Enceladus's surface, and so I hope that this model will be useful for Europa as well," Kite noted.

The Kite-Rubin model of the Enceladus plumbing system consists of a series of nearly parallel, vertical slots that reach from the surface down to the water below. 

They applied Saturn's tidal stresses to their model on a desktop computer and watched what happened.

Tidal pumping heats the water and the ice shell via turbulence. 

Kite and Rubin have proposed that new Cassini data can test this idea by revealing whether or not the ice shell in the south polar region is warm.

If the new mechanism is a major contributor to the heat coming from the fractures, then the south polar ice in between the fractures may in fact be cold. 

The jury is still on out on this until the results from the final Enceladus flybys of last year are fully analysed.

“The new work brings to the fore a process that had escaped notice - the pumping of water in and out of the deep fractures of the south polar ice shell by tidal action,” explained Carolyn Porco, head of Cassini's imaging science team.​

Humans capable of multiple, simultaneous life changes

New York, March 27 (IANS) Human beings are capable of multi-tasking and accommodating simultaneous changes in life, says a new study and adds that people have seriously underestimated the ability to change lives for the better.

"The study demonstrates that simultaneous, significant improvement across a broad range of mental and physical functions is possible," said lead author Michael Mrazek, director at University of California, Santa Barbara, in US.

The results of the study, published in the journal Frontiers in Human Neuroscience, showed dramatic improvements in more than a dozen different outcomes in the participants, including strength, endurance, flexibility, working memory, standardized test performance, focus, mood, self-esteem, mindfulness and life satisfaction.

Further, a comprehensive approach allows each area of improvement to reinforce the others.

"Recent research suggests its often more effective to make two or more changes simultaneously, especially when those changes reinforce one another. It's easier to drink less coffee if at the same time you get more sleep. Our intervention extended this logic by helping people make progress in many ways, which can create an upward spiral where one success supports the next," Mrazek noted.

In the study, which spanned six-weeks, 31 college students were recruited for an intensive lifestyle change program; 15 participated in the intervention and 16 were in the waitlist control group.

Those in the intervention put in five hours a day each weekday for six weeks. They did 2.5 hours of physical exercise (including yoga and pilates), one hour of mindfulness practice and 1.5 hours of lecture or discussion on topics such as sleep, nutrition, exercise, mindfulness, compassion, relationships or well-being.

The were advised to limit alcohol consumption to one drink a day, eat a diet of mostly whole foods and sleep 8-10 hours a day.

Throughout the study, the participants were tested on a variety of factors, including physical fitness, cholesterol and triglyceride levels, working memory capacity, reading comprehension and more.

They also underwent magnetic resonance imaging (MRI) of their brains to examine areas known to be associated with a range of cognitive functions.

The neuroimaging findings showed that the participants made dramatic improvements in their mindfulness, their reading comprehension, their working memory capacity.

The study could have wider applications beyond the college campus. Students from middle school or high school and also retirees can kick-start the next phase of their lives from similar programs.

More research is necessary to know if these results generalise to other populations, but there may eventually be opportunities for similarly modelled programs to be integrated into education, medicine, or social services, the researchers concluded.​

Magnetar behind explosion of extremely bright supernova

Tokyo, March 27 (IANS) Highly magnetised, rapidly spinning neutron stars called magnetars can explain the energy source behind extremely unusual stellar explosions, calculations done by scientists have found.

Stellar explosions known as supernovae usually shine a billion times brighter than the Sun.

Super-luminous supernovae (SLSNe) are a relatively new and rare class of stellar explosions, 10 to 100 times brighter than normal supernovae.

But the energy source of their super-luminosity, and explosion mechanisms are a mystery and remain controversial amongst scientists.

A group of researchers led by Melina Bersten from Kavli Institute for the Physics and Mathematics of the Universe at Tokyo University tested a model that suggests that the energy to power the luminosity of two recently discovered SLSNe, SN 2011kl and ASASSN-15lh, is mainly due to the rotational energy lost by a newly born magnetar.

They analysed two recently discovered super-luminous supernovae: SN 2011kl and ASASSN-15lh.

"These supernovae can be found in very distant universe, thus possibly informing us the properties of the first stars of the universe," said Kavli IPMU principal investigator Ken'ichi Nomoto,

The team performed numerical calculations to explore the magnetar hypothesis.

It found both explosions could be understood in the framework of magnetar-powered supernovae.

"These two extreme super-luminous supernovae put to the test our knowledge of stellar explosions," added Bersten in a paper published in The Astrophysical Journal Letters in January.

To confirm the team's calculations, further observations would need to be carried out when the material ejected by the supernova is expected to become thin.

The most powerful telescopes, including the Hubble Space Telescope, will be required for this purpose.

If correct, these observations will allow scientists to probe the inner part of an exploding object and provide new insight on its origin and evolution of stars in the Universe.​

Tougher men less likely to be honest with doctors

New York, March 27 (IANS) Stop acting like a tough man and start facing the reality. A team of US researchers has found that most men on an average die five years earlier than women as they are less likely than women to go to a doctor.

The study also says, if they do go, they are more likely to choose a male doctor and are less likely to be honest with that doctor about their symptoms.

The researchers found that men who held traditional beliefs about masculinity -- that men should be tough, brave, self-reliant and restrained in their expression of emotion -- were more likely to ignore medical problems, or at least put off dealing with them, than women or than men with less traditional beliefs.

"The question that we wanted to answer was, why do men die earlier than women?" said Diana Sanchez from Rutgers University in the US.

"Men can expect to die five years earlier than women and physiological differences don't explain that difference," Sanchez added in the paper published in the journal Preventive Medicine.

For their study, researchers asked about 250 men participants to fill an online questionnaire designed to elicit their opinions about manhood and relative attributes of men and women.

They also answered questions about the preference of doctor.

The higher they scored on the masculinity scale, the more likely participants were to prefer a male to a female doctor.

They were more likely to choose a male doctor, based on the belief that male doctors were more competent than female doctors.

"That's because they don't want to show weakness or dependence to another man, including a male doctor," Sanchez explained.

The researchers then recruited 250 male undergraduates at a large public university and had them fill out similar questionnaires.

Each subject was interviewed by male and female pre-medical and nursing students about their medical conditions.

Ironically, the researchers found that men tend to be more honest about their medical symptoms with female doctors, because to be honest about vulnerabilities causes them no loss of status with women.​

Breastfeeding, vaccinations cut ear infections in babies

New York, March 28 (IANS) Higher rates of breastfeeding, use of vaccinations and lower rates of smoking by mothers have reduced the rates of ear infections during the first year of a baby, finds a new study.

"Prolonged breastfeeding was associated with significant reductions in both colds and ear infections, which is a common complication of the cold," said lead researcher Tasnee Chonmaitree, professor at University of Texas in US.

"It is likely that medical interventions in the past few decades, such as the use of pneumonia and flu vaccines and decreased smoking helped reduce ear infection incidences," he said.

Ear infections in young infants who are under six months old are at an increased risk of having the infection recurrently later in life. 

The findings, published in the journal Pediatrics, revealed that the rates of ear infection dropped from 18 to 6 percent in three month olds, from 39 to 23 percent in six month olds and from 62 to 46 percent in one year olds.

For the study, 367 babies less than one month old were investigated from October 2008 to March 2014, till their first birthday.

The team collected nose and throat mucus samples throughout the study to seek out and identify infections and gathered information on family history of ear infections, cigarette smoke exposure and breast versus formula feeding. 

Parents notified whenever their baby showed any signs of an ear infection or upper respiratory infection, which is the common cold. 

"We clearly showed that frequent upper respiratory infections, carriage of bacteria in the nose, and lack of breastfeeding are major risk factors for ear infections," said Chonmaitree. 

Acute otitis media, or an ear infection, is one of the most common childhood infections, the leading cause of visits to doctors by children and the most common reason children take antibiotics or undergo surgery.