New genetic tool to predict heart disease risk

Scientists have created a new tool that can calculate the genetic risk score of people likely to develop coronary heart disease, an advance that may pave way for early and personalised preventive interventions.

Genetic factors have long been known to make a significant contribution to CHD risk.

Recent advances in genetics have led to the identification of many Single Nucleotide Polymorphisms (SNPs) - very small differences in our DNA that vary from person to person.

By looking at over 49,000 SNPs, researchers created a score, known as a genomic risk score (GRS) and showed that the higher the GRS the higher the future risk of CHD.

People with a GRS in the top 20 per cent had an over 5-fold higher life-time risk of CHD than those in the bottom 20 per cent.

The study from University of Leicester in the UK is the first to look at a much larger number of SNPs to give a fuller picture of an individual's genetic risk of developing CHD.

Currently, clinical risk scores are based on known risk factors for CHD such as cholesterol level, having high blood pressure or diabetes and smoking.

However, such scores are imprecise and unable to identify a large proportion of people who develop CHD. The researchers showed that the GRS was independent of the clinical risk scores and by combining the two risk score tools they were better able to predict people who were at risk of developing CHD in the next 10 years.

"This is the first really large study showing the potential benefits of using a genetic risk score over and above current methods to identify people at increased risk of coronary heart disease," said Sir Nilesh Samani from the University of Leicester.

"We already know that CHD starts at an early age, several decades before symptoms develop, and preventative measures should ideally be applied much earlier, especially to those who are at increased risk," Samani said.

"Current clinical risk scores are not good at evaluating risk until middle-age. On the other hand the GRS, which is based on your DNA, can be applied at any age," he said.

"Earlier identification of people who would most benefit from lifestyle changes and medication to reduce their risk of a heart attack could save countless lives," he added.

The research was published in the European Heart Journal. 

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Polycystic ovarian syndrome (PCOS)

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 Polycystic ovarian syndrome (PCOS) is a medical condition related to a woman’s endocrine system. Generally, this disorder is characterised by an imbalance of the sex hormones (oestrogen and progesterone), which leads to the development of multiple small cysts in the ovaries. Symptoms of PCOS include acne, irregular menstrual cycle and depression to name a few.

The causes of PCOS have not been accurately identified so far, but researchers suggest that the following factors might contribute to the onset of the condition.

1. Increased amount of insulin secretion- Women suffering from insulin resistance may get PCOS as their body is not able to effectively use this insulin, which results in increased insulin secretion by the pancreas. This, in turn, triggers more androgen (male sex hormone) production in the ovaries, making it difficult for the ovaries to ovulate.

2. Lower inflammation levels- The white blood cells present in your body form resistance against infections through a response termed as inflammation. Women with lower inflammation levels are likelier to get PCOS as the decreased levels stimulate polycystic ovaries, thereby producing more androgens.

3. Genetic factor- If you have a family history of PCOS, it’s highly probable that you may also get it as the disease is linked with your genes.

 PCOS comes with numerous side effects like acne, obesity, infertility, excessive facial or body hair among others. There are certain lifestyle changes, which you may consider to manage PCOS and minimise its side effects.

1. Change your diet - Opt for a low carbohydrate, low sugar diet to keep your insulin levels in control, as insulin is responsible for increasing the severity of PCOS symptoms.

2. Try to maintain an ideal body weight - Obesity is known for worsening insulin resistance, and you can prevent this by regularly keeping your weight in check. You can practice some easy at-home exercise to reduce weight besides having a balanced diet.

3. Get yourself checked regularly - Visit a doctor and get yourself checked regularly for potential health risks as PCOS is often associated with increased chances of diabetes, heart diseases, certain forms of cancer, hypertension, and high LDL (bad) cholesterol levels.

Could baking soda give us better vision?

Baking soda can alter how we see by modifying the visual signal generated by photo-receptors in the eyes, scientists have found.

The researchers now hope to investigate the possibility that controlling bicarbonate (baking soda) levels in the eye will slow the progress of, or may even prevent, eye diseases.

Bicarbonate in the body plays an essential role in buffering pH, aiding in digestion and neutralising lactic acid produced during physical exertion.

Much of the bicarbonate in our bodies comes from carbon dioxide, which is produced as a waste product in all cells, although some is ingested with carbonated beverages and certain types of foods.

The new study by researchers from the Massachusetts Eye and Ear/ Harvard Medical School and colleagues at Salus University, found that bicarbonate alters how we see by modifying the visual signal generated by rod and cone photo-receptors that detect light.

Within rods and cones, a small soluble molecule, cGMP, links photon absorption to the electrical activity of the photoreceptor.

In the light, cGMP is destroyed and ion channels are closed.

Positively charged sodium ions cease to enter the rod or cone and the membrane potential becomes more negative or hyperpolarised. Bicarbonate directly stimulates an enzyme called guanylate cyclase that synthesises cGMP.

"By opposing the effect of light, bicarbonate limits the size of the photon response and quickens its recovery. As a result, sensitivity to light is slightly lower but our ability to track moving objects is improved," said lead author Clint Makino, director of the Makino Laboratory at Mass Eye and Ear and an Associate Professor of Ophthalmology at Harvard Medical School.

"An intriguing implication is that vision may change with metabolic state, although further research is necessary for confirmation.

"It is now known that in some types of retinal diseases, a genetic defect causes cGMP in the rods and/or cones to rise to abnormally high, lethal levels. Once lost, rods and cones are not replaced, so an irreversible blindness is the tragic outcome," Makino said.

The study is published in the Journal of Biological Chemistry.

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How 3-D Imaging Can Help Detect Autism in Kids Early?

As the decade of 3-D kicks off, next one decade will revolve around the applications of the new technology in many more fields from Shahrukh Khan’s 3D statue to International Space Station need for a ranch.

Not far behind, health scientists have found that advanced 3-D facial imaging will help detect early symptoms of autism in kids.

The University of Missouri researchers’ team came up with its new study based on the use of advanced three-dimensional imaging and statistical analysis techniques to identify autism in children by measuring facial angles. Soon 3D may become an effective tool to screen young children for autism and it may provide clues to its genetic causes too, say scientists.

“We want to detect the specific facial traits of the face of a child with autism,” said Ye Duan from the College of Engineering at the University of Missouri. It might “help us define the facial structures common to children with autism and potentially enable early screening for the disorder,” Duan said.

 Duan and co-author Judith Miles, professor emeritus in the MU Thompson Center for Autism and Neuro-developmental Disorders, used a system of cameras to generate three-dimensional images of children’s faces aged between 8 and 12 years.

One group of children had been already diagnosed with autism by the Thompson Centre and the other group consisted of typically developing children. Taking their photos, developing them in a 3D form, researchers were able to measure distances along the curvature of the face rather than in a straight line as had been done in previous tests.

Duan then applied a modern statistical analysis tool to measure minute differences in the facial curves and measurements of each group.

“Over years of treating children, I noticed that a portion of those diagnosed with autism tend to look alike with similar facial characteristics,” Miles said. “I thought perhaps there was something more than coincidence at play.”

The differences may not be abnormal but appeared analogous to similarities observed among siblings, he said and added that using three-dimensional images and statistical analysis, the team was able to “create a ‘fine-tuned map’ of children’s faces and compared those measurements to the various symptoms they exhibit.”

The researchers came out with three distinct subgroups of children with autism who had similar measurement patterns in their facial features and they also shared similarities in the type and severity of their autism symptoms.

The study has been published in the Journal of Autism and Developmental Disorders.

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