Gene behind freckles, brown hair and blue eyes found

November 23, 2013

boards.weddingbee.comWashington, Nov 23: In the study of Icelanders, researchers uncovered an intricate pathway involving the interspersed DNA sequence, or non-coding region, of a gene that is among a few dozen associated with human pigmentation traits.

It is more common to find people with ancestors from geographic locations farther from the equator, such as Iceland, who have less pigment in their skin, hair and eyes.

The researchers, including scientists from the National Human Genome Research Institute (NHGRI), analysed data from a genome-wide association study (GWAS) of 2,230 Icelanders.

A GWAS compares hundreds of thousands of common differences across individuals' DNA to see if any of those variants are associated with a known trait.

"This study explains a complex molecular pathway that may also contribute insights into skin diseases, such as melanoma, which is caused by the interaction of genetic susceptibility with environmental factors," said NHGRI Scientific Director Dan Kastner.

Researchers focused on the interferon regulatory factor 4 (IRF4) gene, previously associated with immunity. IRF4 makes a protein that spurs production of interferons, proteins that fight off viruses or harmful bacteria.

The researchers noted from genomic databases that the IRF4 gene is expressed at high levels only in lymphocytes, a type of white blood cell important in the immune system, and in melanocytes, specialized skin cells that make the pigment melanin. The new study established an association between the IRF4 gene and the pigmentation trait.

"Genome-wide association studies are uncovering many genomic variants that are associated with human traits and most of them are found in non-protein-coding regions of the genome," said William Pavan, co-author and senior investigator, Genetic Disease Research Branch, NHGRI.

The Icelandic GWAS yielded millions of variants among individuals in the study. The researchers narrowed their study to 16,280 variants located in the region around the IRF4 gene.

They used an automated fine-mapping process to explore the set of variants in IRF4 in 95,085 people from Iceland. The data revealed that a variant in a non-coding, enhancer region that regulates the IRF4 gene is associated with the combined trait of sunlight sensitivity, brown hair, blue eyes and freckles.

The study was reported in the journal Cell.

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Agencies
July 4,2020

The Union health ministry on Friday revised the dosage of anti-viral drug remdesivir to be administered to coronavirus patients in the moderate stage of illness from the earlier six days to five days as it issued an updated 'Clinical Management Protocols for COVID-19'.

The drug, administered in the form of injection, should be given at a dose of 200 mg on day one followed by 100 mg daily for four days (total five days), the new treatment protocols stated.

The Health Ministry on June 13 had allowed the use of remdesivir for restricted emergency use in moderate cases under "investigational therapies".

"Under emergency use authorisation, remdesivir may be considered for patients in moderate stage requiring oxygen support," the document stated.

It is not recommended for those with severe renal impairment and high level of liver enzymes, pregnant and lactating women, and those below 12 years, it said.

The ministry also okayed off-label application of tocilizumab, a drug that modifies the immune system or its functioning, and convalescent plasma for treating COVID-19 patients in the moderate stage of illness as "investigational therapies".

It also recommended hydroxychloroquine for patients during the early course of the disease and not for critically-ill patients.

On June 27, the ministry had included an inexpensive, widely used steroid dexamethasone in treatment protocols for COVID-19 patients in the moderate to severe stages of their illness among other therapeutic measures.

The ministry advised use of dexamethasone, which is already used in a wide range of conditions for its anti-inflammatory and immunosuppressant effects, as an alternative choice to methylprednisolone for managing moderate to severe cases of coronavirus infection.

India's COVID-19 cases soared by over 20,000 in a day for the first time taking the country's total tally to 6,25,544 on Friday while the death toll climbed to 18,213 with 379 new fatalities, according to the Union Health Ministry data updated at 8 am.

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Agencies
May 23,2020

Food with high water content is highly prescribed by doctors to stay hydrated during the summers, a season that summons a wave of soaring temperatures, higher than 40-degrees.

A much-loved fruit in India, apples are hydrating heros' in such a situation. A heatwave can affect human health in a varied manner and to maintain ideal body temperature in this soaring summer, one must remain adequately hydrated, be protected from the sun and maintain hygiene.

Working professionals and people who must step out in summers, are prone to the heatwave impact. Pediatric experts and doctors agree on the benefits of drinking water and eating fruits, especially, apples. 'An apple a day, keeps the doctor away' is true as they are rich in a number of vitamins with great anti-inflammatory benefits and many other essential minerals. Washington Apple Commission spells how apples can prove to be a summer-friendly fruit.

People often don't realise the danger of exposing themselves to extreme heat. Older adults, young children, and people with chronic illnesses are most at greater risk for serious problems. The nutrition benefits of apples may help not only in avoiding such illnesses but may also protect against many such conditions.

As popular as apples are as a fruit, they are enriched in antioxidants, dietary fibers, vitamins and a range of other nutrients that are greatly beneficial in maintaining good health. The fruit is rich in soluble fibers which may help prevent several health conditions and may lower the risk of major diseases such as heat strokes, diabetes and cancer.

The soluble fiber also promotes weight loss and improves gut health. The prebiotic effects of apples help feed the good bacteria in the gut, thus, improving digestion.

Apples are made of 85 percent water and contain vitamins, fibres and antioxidants. A high fibre content is a particularly beneficial property of apples, as improper digestion is a major health concern in the tropical climatic region. Apples are also enriched in antioxidants that help protect the lungs from oxidative damage and help oxygen flow through the blood.

Apple-based recipes

Make interesting snacks, dessert, beverages and savoury meals with this miraculous fruit during summers.

Salted apple caramel galette

Caramel apples get a grown-up makeover with this Salted Caramel Apple Galette. Warm, gooey, and delicious, this pastry is loaded with apples and homemade caramel. It's a sophisticated take on a childhood favorite and since it's easier to make than pie, it's perfect for summer get-togethers.

Caramel apple pie ice-cream sandwiches

Nothing is better at a cookout on a warm day than a cold, refreshing ice cream sandwich. In Caramel Apple Pie Ice Cream Sandwiches, the comforting flavor of apple pie is recreated in a creamy frozen banana-based ice cream studded with apple and date pieces. Then that scoop of ice cream is sandwiched between two pieces of no-bake cinnamon oat cookie dough.

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Agencies
February 10,2020

Washington D.C, Feb 10: Children's vulnerability towards depression, anxiety, impulsive behaviour, and poor cognitive performance could be determined by considering the hours of sleep they manage to get.

Sleep states are active processes that support the reorganisation of brain circuitry. This makes sleep especially important for children, whose brains are developing and reorganising rapidly.

In a study by researchers from the University of Warwick -- recently published in the journal Molecular Psychiatry -- cases of 11,000 children aged between 9 and 11 years from the Adolescent Brain Cognitive Development dataset were analyzed to find out the relationship between sleep duration and brain structure.

The study was carried out by researchers Professor Jianfeng Feng, Professor Edmund Rolls, Dr. Wei Cheng and colleagues from the University of Warwick's Department of Computer Science and Fudan University.

Measures of depression, anxiety, impulsive behaviour and poor cognitive performance in the children were associated with shorter sleep duration. Moreover, the depressive problems were associated with short sleep duration one year later.

The reduced brain volume of areas such as orbitofrontal cortex, prefrontal, and temporal cortex, precuneus, and supramarginal gyrus was found to be associated with the shorter sleep duration.

Professor Jianfeng Feng, from the University of Warwick's Department of Computer Science, comments: "The recommended amount of sleep for children 6 to 12 years of age is 9-12 hours. However, sleep disturbances are common among children and adolescents around the world due to the increasing demand on their time from school, increased screen time use, and sports and social activities."

A previous study showed that about 60 per cent of adolescents in the United States receive less than eight hours of sleep on school nights.

Professor Jianfeng Feng further added: "Our findings showed that the total score for behavior problems in children with less than 7 hours sleep was 53 per cent higher on average and the cognitive total score was 7.8 per cent lower on average than for children with 9-11 hours of sleep. It highlights the importance of enough sleep in both cognition and mental health in children."

Professor Edmund Rolls from the University of Warwick's Department of Computer Science also commented: "These are important associations that have been identified between sleep duration in children, brain structure, and cognitive and mental health measures, but further research is needed to discover the underlying reasons for these relationships."

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