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Mutated Dyrk1b – the dastardly gene responsible for obesity, high blood pressure and diabetes?

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Written By: Editorial Team | Published : May 17, 2014 1:23 PM IST

gene testing patentIn a major breakthrough, researchers have identified a key gene, mutation of which could lead to a cluster of disorders such as obesity, high blood pressure and diabetes - together know as metabolic syndrome. Having any or combinations of these factors could significantly increase risks of heart diseases and strokes. The mutation was in the gene 'Dyrk1B' - an enzyme that in normal conditions regulates the balance of muscle to fat as well as stable glucose levels by controlling the signalling pathways.

When mutated, 'Dyrk1B' inhibited pathways that keep glucose levels stable, and become hyperactive to promote the production of fat on the body, the researchers found. 'The entire pathway of this gene seems to be linked with glucose and fat metabolism, through the differentiation of stem cells into muscle, bone, cartilage, and fat tissue,' said Arya Mani, an associate professor of cardiology and genetics at Yale School of medicine.

'Our findings suggest that mutation in genes that regulate the fate of these cells can result in more fat instead of muscle,' Mani added. The study involved three large families with familial or inherited central obesity, early-onset coronary artery disease, hypertension, and diabetes.

Using whole-exome sequencing, they identified the so-called 'founder mutation' - a genetic abnormality that begins in one ancestor and repeats through successive generations of a family.
The researchers found that mutation of Dyrk1B was present in all family members affected by metabolic syndrome, and absent in those who were unaffected.

Researchers hope that it would be possible to develop therapies that can eliminate the impact of Dyrk1B mutation. 'The advantage of Dyrk1B as an obesity gene is that its inhibition may not only reduce body weight, but favourably affect other risk factors,' said Ali Keramati, resident in internal medicine at Yale School of Medicine.

The study appeared in New England Journal of Medicine.

What is obesity?

Obesity refers to increased body fat but it is not same as being overweight. A person who is overweight need not be obese but a person who is obese is overweight. Overweight is the term used for a person who weighs more. The weight can be muscle weight, bone weight or fat weight. But a person is said to be obese when he/she consumes more number of calories than the number of calories used by the body. If your Body Mass Index or BMI (calculated by dividing height by weight) is more than 30, then you are obese. Obesity is becoming a global epidemic not only in developed nations but also in developing nations like India. Obesity is linked to a host of lifestyle disorders like diabetes, heart diseases, hypertension and stroke. Easy availability of sugars and fats, messing with our body clocks and an increased sedentary lifestyle are responsible for obesity. Being overweight and obesity are the fifth leading risk for global deaths with at least 2.8 million adults dying each year due to them. In this section, you'll find articles like the need to control obesity, hazards of being obese, childhood obesity etc. You can also look for ways to fight obesity, for ex: exercises for obese people, bariatric surgery, possibility of eating obesity without healthy diet and exercise, healthy food option to lose weight quickly.

What is diabetes?

Diabetes is a lifelong disease that is characterised by increased levels of sugar in the blood. It is either caused due to lack of insulin (a protein that regulates blood glucose levels) or due to lack of response to insulin produced by the body. Diabetes caused by lack of insulin is called type 1 diabetes. It develops due to fault in the genes that make insulin and is seen in young adults and teenagers. Diabetes caused by failure of response to insulin is called type 2 diabetes. It is more common type of diabetes and is found in adults. It is caused mainly due to lifestyle factors. Some of the common symptoms of diabetes are hunger, frequent urination and increased thirst. Factors like unhealthy diet, sedentary lifestyle and obesity are main contributing factors of type 2 diabetes. In fact, type 2 diabetes is one of the most common 'lifestyle diseases' which is plaguing people in the developed countries. Diabetes is also known to cause complications like heart diseases and hypertension. In this section you will find answers to all your queries regarding diabetes. For example, why is it difficult to manage diabetes, how often you should use a glucometer to monitor blood glucose level, can you take honey if you are diabetic and much more. You can find a lot of helpful suggestions to prevent diabetes, reduce your risk of diabetes, natural remedies to control diabetes, healthy food choices for diabetics, etc.

What is hypertension?

Hypertension is the medical terminology for high blood pressure. Blood flows through the arteries due to force that is exerted every time the heart beats to pump blood to various organs of your body. The force with which blood flows exerts pressure on the walls of the arteries. The more the pressure, the harder your heart has to work to pump blood.

Blood pressure is measured in millimetres of mercury (mmHg). 120/80 mmHg is considered as the normal reading for blood pressure, where 120 is the pressure when the heart beats to pump out blood (systolic pressure) and 80 is the pressure when the heart rests between beats (diastolic pressure). A person is said to have hypertension when the blood pressure readings are 140/90 mmHg or higher.

Hypertension is one of the most common chronic conditions that can lead to several other health problems in the presence of contributing factors like genetics, obesity or high cholesterol levels. These factors further increase the resistance of blood flow through the arteries and cause high BP. Elevated blood pressure is linked to a variety of diseases like coronary artery diseases, stroke, kidney diseases, vision loss and erectile dysfunction. Hypertension can be curtailed by changes like exercising more, eating right and reducing stressapart from taking anti-hypertensive drugs.

For similar articles, check out our obesity, diabetes and hypertension sections. Follow us on Facebook and Twitter for all the latest updates! For daily free health tips, sign up for our newsletter. And to join discussions on health topics of your choice, visit our forum.