New Delhi, July 8 (IANS) A team of US scientists on Monday announced the development of a discovery platform to probe the function of genes involved in metabolism.

The scientists used the new platform, called ‘GeneMAP’ (Gene-Metabolite Association Prediction), to identify a gene necessary for mitochondrial choline transport.

Abnormalities in metabolic functions are associated with a range of disorders including neurodegenerative diseases and cancers, according to the study published in the journal Nature Genetics.

“Despite decades of research, many metabolic genes still lack known molecular substrates. The challenge is, in part, due to the enormous structural and functional diversity of the proteins,” said Eric Gamazon, Associate Professor of Medicine at Vanderbilt University Medical Center in the US.

Metabolic reactions play critical roles in nutrient absorption, energy production, waste disposal, and synthesis of cellular building blocks including proteins, lipids and nucleic acids.

About 20 per cent of protein-coding genes are dedicated to metabolism, including genes that code for small-molecule transporters and enzymes, Gamazon said.

To discover functions for “orphan” transporters and enzymes — proteins with unknown substrates — the researchers developed the GeneMAP discovery platform.

“What’s exciting about this study is its interdisciplinarity — the combination of genomics and metabolism to identify a long-sought mitochondrial choline transporter,” Gamazon said.

This approach can help identify the substrates of a wide range of enzymes and transporters, and “deorphanise” these metabolic proteins.

–IANS

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Seoul, July 8 (IANS) The South Korean government announced a decision on Monday to withdraw its plan to take administrative steps, including the suspension of medical licenses, against striking trainee doctors in an effort to seek a breakthrough in monthslong medical service disruptions.

More than 12,000 trainee doctors, over 90 per cent of the total, have been on strike in the form of mass resignations since February 20 in protest of the government’s medical school admissions quota hike, and most of them have rejected the state order to return to work, reports Yonhap News Agency.

“Starting today, the government decided not to seek administrative steps against any trainee doctors regardless of their returning to hospitals given the demand from the medical community and the health care situations,” Health Minister Cho Kyoo-hong told a press briefing after a meeting of the Central Disaster and Safety Countermeasures Headquarters.

“The government will give special favours to returning junior doctors regarding their training, as well as to those who opt to apply again for training courses in September,” Cho added.

The government had said it would suspend the medical licenses of the striking doctors and take other punitive, administrative steps for collective action in accordance with the law.

But the medical community has called for the withdrawal, saying such measures have rather worsened the situation as doctors are reluctant to return to work out of concerns that the move would lead to punishment against their defiant colleagues.

Officials later hinted at suspending, rather than cancelling, such plans, but Cho made it clear that the government would accept the doctors’ demand.

The decision, however, could spark criticism that it hurts the principle of fairness over the government’s handling of labour actions as doctors are allowed to go unpunished despite illegal acts.

“It aims to minimise the medical service vacuum for seriously ill, emergency patients and to nurture professional doctors at a proper time to guarantee public interests,” Cho said, asking training hospitals to finalise the number of vacancies by next Monday.

It is not immediately known how many of the striking doctors would return to work following the announcement.

“We believe that the withdrawal of administrative measures was the minimum step necessary to initiate a dialogue,” a third-year resident told Yonhap News Agency, requesting not to be named. “I believe this is the right direction, regardless of whether it was sufficient or not.”

An Suk-kyoon, who leads the emergency committee of medical professors at Yonsei University, however, noted that the government fell short of offering credible messages to the medical community.

“Although the government’s announcement may mark a half step forward, it only withdrew the administrative steps instead of cancelling them,” An said.

For more fundamental solutions, the government vowed to push for reforming the manpower structure of major general hospitals by reducing their dependence on trainee doctors and boosting the number and roles of professional doctors and physical assistance nurses.

By doing so, large hospitals will be able to better focus on providing treatment to emergency patients, and those who suffer from critical cases and rare diseases, according to the health ministry.

–IANS

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New Delhi, July 8 (IANS) Asking the Centre and National Testing Agency (NTA) about the action initiated against the wrong beneficiaries in the NEET-UG examination held on May 5, the Supreme Court on Monday remarked that denial to the allegations of paper leak is only adding to the problem.

To decide if a re-test should be ordered in entirety, a bench, headed by CJI D.Y. Chandrachud directed the NTA to make a full disclosure before the apex court regarding the nature of the paper leak, the places where leaks took place, and lag of time between the occurrence of the leak and the conduct of the examination.

The Bench, also comprising Justices J.B. Pardiwala and Manoj Misra, asked the CBI (Central Bureau of Investigation) to file a status report indicating the status of investigations and the material collected during the course of investigations.

“The IO shall place the material collected during the course of investigation when the leak is alleged to have taken place and when the leaked question paper was made available,” it ordered.

Further, the apex court said if feasible, it would utilise technology and law to identify the beneficiary of wrongdoings, so 23 lakh students do not need to appear in re-exam.

The matter will be heard next on July 11.

In a preliminary affidavit filed before the top court last week, the Centre opposed the cancellation of the NEET-UG exam saying that scrapping the entire exam would seriously jeopardise the lakhs of honest candidates who attempted the question paper held on May 5.

The affidavit filed by the Union Ministry of Education said: “In the absence of any proof of any large-scale breach of confidentiality in a pan-India examination, it would not be rational to scrap the entire examination and the results already declared. It is submitted that in any examination, there are competing rights that have been created whereby the interests of a large number of students who have taken the examination without adopting any alleged unfair means must not also be jeopardised.”

As regards the alleged instances of irregularities, including cheating, impersonation, and malpractices, the Central Bureau of Investigation (CBI) is undertaking an investigation and has taken over the cases registered in different states, it added.

The issue relating to the grant of grace marks in the NEET-UG exam has already been closed by the Supreme Court after NTA submitted the scorecards of 1,563 candidates, who were awarded compensatory marks on account of the loss of time, had been withdrawn and cancelled. These candidates were given the option to appear in a re-test or may appear in counselling on the basis of actual marks obtained in the exam without normalisation.

–IANS

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San Francisco, July 8 (IANS) A team of researchers from the US-based University of North Carolina has identified a potential treatment for a rare genetic disorder — ‘Angelman syndrome’, a new study said on Monday.

Angelman syndrome is caused by mutations in the maternally inherited UBE3A gene and is characterised by poor muscle control, limited speech, epilepsy, and intellectual disabilities, explained researchers in the study published in the journal Nature Communications.

Ben Philpot, PhD, the Kenan Distinguished Professor at the UNC School of Medicine, and his lab have identified a small molecule that could be safe, non-invasively delivered, and capable of ‘turning on’ the dormant paternally-inherited UBE3A gene copy brain-wide, which would lead to proper protein and cell function, amounting to a kind of gene therapy for individuals with Angelman syndrome.

“This compound we identified has shown to have excellent uptake in the developing brains of animal models,” said Philpot, who is a leading expert on Angelman syndrome.

As per researchers, UBE3A helps regulate the levels of important proteins; missing a working copy leads to severe disruptions in brain development.

The researchers screened over 2,800 small molecules to determine if one could potently turn on paternal UBE3A in mouse models with Angelman syndrome.

They found that a compound — (S)-PHA533533, which was previously developed as an anti-tumour agent, caused neurons to express a fluorescent glow that rivalled that induced by topotecan, meaning that its effect was potent enough to successfully turn on paternal UBE3A.

Researchers were able to confirm the same results using induced pluripotent stem cells derived from humans with Angelman syndrome, indicating that this compound has clinical potential, the study mentioned.

In addition, they observed that (S)-PHA533533 has excellent bioavailability in the developing brain, meaning it travels to its target with ease and sticks around.

“We were able to show that (S)-PHA533533 had better uptake and that the same small molecule could be translated in human-derived neural cells, which is a huge finding,” said Hanna Vihma, PhD, and first author of the study.

–IANS

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New Delhi, July 8 (IANS) It’s time to rethink our attitude to fatness as prejudice against fat people is endemic in our society and public health initiatives aimed at reducing obesity have only worsened the problem, an Indian-origin academic said on Monday.

In her new book titled ‘Why It’s OK To Be Fat’, Rekha Nath who is an Associate Professor of Philosophy at the University of Alabama in the US, argued for a paradigm shift in how society approaches fatness.

“Being fat is seen as unattractive, even gross. We view fat as a sign of weakness, of greediness, of laziness,” she wrote.

“And we have made the pursuit of thinness, bound up as it is with health, fitness, beauty, and discipline into a moralised endeavour: making the ‘right’ lifestyle choices to avoid being fat is seen as a duty we each must fulfill,” Nath added.

According to research cited in the book, global obesity rates have tripled during the past 50 years, while the World Health Organization has deemed childhood obesity “one of the most serious global public health challenges of the 21st century.”

According to Nath, society must stop approaching fatness as a trait to rid the population of, and instead, approach it through the lens of social equality, attending to the systematic ways that society penalises fat people for their body size.

Fat people are bullied and harassed. They receive worse healthcare, frequently at the hands of doctors and nurses who endorse harmful anti-fat stereotypes.

“Fat students are ridiculed and teased by classmates and even teachers. In the workplace, fat people experience rampant discrimination, which is legal in most jurisdictions,” the author emphasised.

Surveying a body of scientific research, Nath showed that diet and fitness may bear more on our health than weight alone.

For instance, a 2010 systematic review of 36 studies found that fit, obese individuals were less likely to die prematurely than unfit normal-weight individuals.

Nath also pointed to evidence that advice dispensed to fat people to lose excess weight — eat less and move more — is ineffective and can even be harmful.

“Numerous studies indicate that people who experience weight stigma are more likely to suffer depression and low self-esteem,” she explained.

“It is OK to be fat because there’s nothing wrong with being fat,” she concluded.

–IANS

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