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Mystery behind rare bone disorder cracked

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A new research has found that a certain gene mutation causes ‘dripping candle wax’ bone disease. The new study, led by National Institute of Health, offered potential treatment targets for the rare disease, providing important clues about bone development. The findings might lead to insights about fracture healing and osteoporosis.

The rare disorder, known as melorheostosis, causes excess bone formation that resembles dripping candle wax on x-rays. The condition causes pain and bone deformity, which can limit the function of bones.

“Scientists previously assumed that the genetic mutations responsible for melorheostosis occurred in all cells of a person with the disorder,” said co-senior author Timothy Bhattacharyya. “Our team hypothesized that mutations might only occur in the affected bone tissue.”

 

Researchers compared samples of healthy and affected bone from each participant to look for differences in the exome, the portion of the genome that code for proteins.

The analysis revealed that 8 of the 15 participants had mutations in the MAP2K1 gene in the affected bone only.

MAP2K1 produces the protein MEK1. The gene MAP2K1 was previously linked to some types of cancerous growths as well as to conditions that lead to abnormal blood vessel formation in the head, face or neck.

In melorheostosis, all the identified MAP2K1 mutations affected a region of the MEK1 protein that normally suppresses its activity, thus, they caused MEK1 to become overactive. The bone growth was considered benign and didn’t spread to other parts of the body.

“This is an exciting study of a very rare bone disorder that not only identified the responsible mutation in half of the patients, but uncovered fundamental information about the role of a cancer-related gene in the metabolic pathways of normal bone,” said study co-senior author Joan Marini.

“When we started, we had no preconceived causative pathways, but the participation of the patients has really changed the scientific landscape on this topic. Further studies on how this pathway works in both normal and mutant bone cells may have broad implications that could benefit a wider population,” added Marini.

“Most adults have the problem of weakening bones as they grow older. These patients have the opposite problem as some of their bones are rock hard and still growing,” said Bhattacharyya. “The prospect that we could somehow harness this pathway in the future is so exciting.”

The study is published in the journal Nature Communications.


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Health

Balanced protein intake better for health

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Researchers suggest that excessive consumption of protein for building muscle mass could have a negative impact on the body. However, wide-range of protein is best to maintain balance. Amino acids have long been touted by the fitness and bodybuilding communities for their muscle building benefits. From ultra-bulk protein powders to lean mass-promoting snack bars, there’s no shortage of products available for those seeking a muscle boost.

However, protein’s popularity has also meant that less attention has been paid to researching its potentially negative side-effects.

According to the study published in the Journal of Nature Metabolism, excessive consumption of branched-chain amino acids (BCAAs) may reduce lifespan, negatively impact mood and lead to weight gain.

 

BCAAs stands for branched-chain amino acids. It’s a group of three essential amino acids: leucine, isoleucine and valine, and are most commonly found in red meat and dairy.

BCAAs great for adding muscle mass, but science says you could pay for it later.

Researchers have investigated the complex role nutrition plays in mediating various aspects of metabolic health, reproduction, appetite and ageing.

“While diets high in protein and low in carbohydrates were shown to be beneficial for reproductive function, they had detrimental effects for health in mid-late life, and also led to a shortened lifespan,” one of the researchers, Dr Samantha Solon explained.

“What this new research has shown is that amino acid balance is important. It’s best to vary sources of protein to ensure you’re getting the best amino acid balance.”

The current research examined the impacts that dietary BCAAs and other essential amino acids such as tryptophan had on the health and body composition of mice.

“Supplementation of BCAAs resulted in high levels of BCAAs in the blood which competed with tryptophan for transport into the brain,” explained one of the researchers, Professor Stephen Simpson.

“Tryptophan is the sole precursor for the hormone serotonin, which is often called the ‘happiness chemical’ for its mood-enhancing effects and its role in promoting sleep. But serotonin does more than this, and therein lay the problem,” he added.

Dietitian and public health nutritionist Dr Rosilene Ribeiro recommend eating a wide range of proteins.

It’s important to vary protein sources in order to get a variety of essential amino acids, through a healthy and balanced diet rich in fibre, vitamins and minerals.

BCAAs are essential amino acids present in protein-containing foods, with red meat and dairy being the richest sources. Chicken, fish and eggs are also nutritious sources of BCAAs.

Vegetarians can find BCAAs in beans, lentils, nuts and soy proteins.

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Health

Know the severity of falling sick in the morning

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While sickness comes irrespective of the time, the severity of afflictions ranging from allergies to heart attacks differs in the morning from that in the night highlighted a new study. The study was published in the Journal Trends in Immunology which compiled studies, predominantly in mice, that looked at the connection between circadian rhythms and immune responses.

The body reacts to cues such as light and hormones to anticipate recurring rhythms of sleep, metabolism, and other physiological processes. The numbers of white blood cells, in both humans and mice also oscillate in a circadian manner.

Taking into account the above-mentioned facts, researchers in the study found that:

 

Heart attacks in humans are known to strike most commonly in the morning, and research suggests that morning heart attacks tend to be more severe than at night.

In mice, the numbers of monocytes, a type of white blood cell that fights off bacteria, viruses, and fungi –are elevated in the blood during the day. At night, monocytes are elevated in infarcted heart tissue, resulting in decreased cardiac protection at that time of day relative to morning.

Parasite infections are time-of-day dependent. Mice infected with the gastrointestinal parasite Trichuris muris in the morning have been able to kill worms significantly faster than those infected in the evening.

Allergic symptoms follow a time-of-day dependent rhythmicity, generally worse between midnight and early morning. Hence, the molecular clock can physiologically drive innate immune cell recruitment and the outcomes of asthma in humans, or airway inflammation in mice, the review notes.

“Investigating circadian rhythms in innate and adaptive immunity is a great tool to generally understand the physiological interplay and time-dependent succession of events in generating immune responses,” said senior author Christoph Scheiermann, University of Geneva.

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ICMR develops affordable quick test kits for diagnosing genetic bleeding disorders

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The Indian Council of Medical Research (ICMR) has developed a cost-effective and rapid point-of-care test kit for diagnosing genetic bleeding disorders such as haemophilia A and Von Willebrand disease (VWD).

Diagnostics which are currently available require special equipment and are expensive.

“Both Haemophilia A and VWD are under diagnosed disorders in our country. There are only handful of comprehensive diagnostic centres for bleeding disorders,” an official at ICMR said.

 

“Lack of awareness and diagnostic facilities, high cost of tests are some of the factors for under-diagnosis of bleeding disorders in our country,” he said.

According to the ICMR, the kit is the world’s first point-of-care test for specific diagnosis of any common bleeding disorder and costs less than Rs 50 in comparison to existing conventional test that cost around Rs 4,000 to Rs 10,000.

The newly developed kit would help in diagnosis within 30 minutes of blood sample collection. Also, this will be available at any level of health care system including primary health care centres (PHCs) since it does not require any special expertise or infrastructure.

Worldwide, incidence of Haemophilia A is 1 per 10,000 male births and that of VWD is around 1 per cent of the general population.

“In India, there is no epidemiological data. We may have roughly 80,000-1,00,000 severe Haemophilia cases in our country, but the total number registered with Haemophilia Federation India (HFI) is only around 19,000,” the official said.

Patients with severe Haemophilia A or VWD can have life threatening spontaneous or post-traumatic bleeding like brain haemorrhage and gastrointestinal bleeding. In emergency medical setting, it is important to have a quick diagnosis of bleeding disorders for treatment.

This rapid test kit can be used for the diagnosis of menorrhagia cases/ post-partum haemorrhage (PPH), gynecological complications among others.

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