Daily Archives: February 6, 2017

If you feel youre too short or too tall you can blame your genes. And it looks like theres plenty of blame to go around.

A study in Naturehas identified dozens of infrequently occurring genetic variants that are associated with human height to a moderate or large degree, some of them carrying an influence of up to 2 centimeters (more than of an inch). A number of the DNA elements are tied to genes already known to affect growth, such as those affecting bones and hormones, but others represent new processes involved in growth and height. That latter group could potentially lead scientists to new treatments for growth disorders.

Read: Technology To Change Genes Could End Tuberculosis

In the context of precision medicine, the results also bring hope to understand the genetic basis of complex diseases such as diabetes or schizophrenia, according to the Swiss Institute of Bioinformatics. The idea is that if we can understand the genetics of a simple human trait like height, we could then apply this knowledge to develop tools to predict complex human diseases, researcher Zoltn Kutalik said in the institutes statement.

According to SIB, the research relied on the international effort of more than 300 scientists and pulled DNA data from more than 700,000 people.

Your body might contain genes that can add up to 2 centimeters to your height. Pixabay, public domain

While previous research has fingered hundreds of genetic variants for playing a role in height, the Nature study notes that those variants are much more common, butplay only a marginal role in a persons measurement. The newly discovered variants have greater than 10 times the average effect of common variants.

While DNA plays the biggest role in how tall we are, our diet and our environment also influence how we measure up. For instance, Scientific Americannotes that protein is the most important nutrient for final height. Minerals such as calcium, vitamin A and vitamin D are also significant. Because of this, malnutrition in childhood is detrimental to height.

Source: Marouli E, Graff M, Medina-Gomez C, et al. Rare and low-frequency coding variants alter human adult height. Nature. 2017.

See also:

Genes Tell Us Whether Youll Drop Out of School

How a Blood Transfusion Changes Your DNA

How Evolution Will Change Our Bodies

Read more:
Why You Are Short (Or Tall): Human Genetics, Explained - Medical Daily

[NFL quarterback Tom Bradys] age-39 season was statistically among the best of his 17-year career with the New England PatriotsWhats maybe most remarkable about his 2016 performance is that it came at an age by which many other luminaries of the positionhad already retired.

Bradys DNA does enable him to be bigger and faster and stronger than many of usBut its not one or even a few dozen specific genes that help him with that. Instead, hundreds, if not thousands, of genesdetermine features like body compositionSimply put, Brady likely doesnt have a superhuman mutation tucked into his genetic code.

Some scientists are focused on studying the connection between genes and injury risk, while others think that perhaps the intense training elite athletes go through can kick dormant genes into high gear. Certain types of training seem to activate genes that everyone has that will change muscular structure, even blood vessels, said K. Anders Ericsson, a psychology professor at Florida State University. Theres even compelling evidence that the heart will adapt to these kind of training conditions.

Its also possible that Bradys genetics could explain in part why he has been able to play nearly into his fifth decade. Just as a healthy lifestyle can keep ones fitness age below biological age, some experts believe people have internal aging clocks that tick away at different speeds.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Tom Brady: Ageless wonder

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Tom Brady, 'super human'? How genetics may contribute to his ... - Genetic Literacy Project

Testing a treatment for juvenile Batten disease in a mouse model of the condition

The scientists tested the effect of trehalose in a mouse model of juvenile Batten disease.

We dissolved trehalose in drinking water and gave it to mice that model juvenile Batten disease, said Sardiello. Then, over time we examined the mices brain cells under the microscope. We found that the continuous administration of trehalose inhibits Akt and activates TFEB in the brains of the mice. More active TFEB meant more lysosomes in the brain and increased lysosomal activity, followed by decreased accumulation of the storage material and reduced tissue inflammation, which is one of the main features of this disease in people, and reduced neurodegeneration. These changes resulted in the mice living significantly longer. This is a good start toward finding a treatment for people with this disease.

We are very excited that these findings put research a step closer to understanding the mechanisms that underlie human lysosomal storage diseases, said Palmieri. We hope that our research will help us design treatments to counteract this and other human diseases with a pathological storage component, such as Alzheimers, Huntingtons and Parkinsons diseases, and hopefully ameliorate the symptoms or reduce the progression of the disease for those affected.

The following researchers also contributed to this work: Rituraj Pal, Hemanth R. Nelvagal, Parisa Lotfi, Gary R. Stinnett, Michelle L. Seymour, Arindam Chaudhury, Lakshya Bajaj, Vitaliy V. Bondar, Laura Bremner, Usama Saleem, Dennis Y. Tse, Deepthi Sanagasetti, Samuel M. Wu, Joel R. Neilson, Fred A. Pereira, Robia G. Pautler, George G. Rodney and Jonathan D. Cooper.

This work was supported by NIH grant NS079618, grants from the Beyond Batten Disease Foundation, March of Dimes Foundation grant #5-FY12-114, and a Kings College London Graduate School International Studentship. This project was also supported in part by the Hamill Foundation and by IDDRC grant number 1U54 HD083092 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (Cores: Mouse Neurobehavior, RNA In Situ Hybridization, and Integrated Microscopy).

More information:

Visit here for more information about juvenile Batten disease.

Palmieri, M., et al., mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases, Nature Communications, February 2017, DOI: 10.1038/NCOMMS14338.

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Research finds strategy that may treat juvenile Batten disease - Baylor College of Medicine News (press release)

Genetic study uncovers potential new treatments for inflammatory ... Science Daily Researchers have studied over ten million DNA variations and found new links between the human genome and inflammation tracers. The study uncovered new ... and more »

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Genetic study uncovers potential new treatments for inflammatory ... - Science Daily

A large-scale international study involving 700,000 participants has revealed 83 genetic variations controlling human height.

It is well-known that above-average-height parents often have above-average-height children just as below-average-height parents often have below-average-height children. Indeed, this observation suggests that parent-to-child transmission of genetic information is the primary factor that determines an individual's height.

To discover the 83 genetic variations, the research team measured the presence of 250,000 genetic variations in the study's 700,000 participants - an enormous job.

"Of these 83 genetic variations, some influence adult height by more than 2 centimetres, which is enormous," said Guillaume Lettre, a professor at Universit de Montral's Faculty of Medicine. "The genes affected by these genetic variations modulate, among other things, bone and cartilage development and growth hormone production and activation."

Human height as a starting point for precision medicine

"In our study, we used adult height as a simple observable physical trait to understand how information in our DNA can explain how we are all different," said Lettre. "The idea was that if we could understand the genetics of human height, we could then apply this knowledge to develop genetic tools to predict other traits or the risk of developing common diseases."

Which people will have a heart attack before age 55 despite having a healthy lifestyle? Which children will develop leukemia, and how will they respond to treatment? Questions like these are at the heart of precision medicine, an emerging approach to healthcare that involves customizing treatment and prevention to the individual patient. The results of this study on human height could help to identify genetic variations that influence the risk of developing human diseases, the researchers believe. Eventually, these variations will be valuable tools for practioners of precision medicine to use.

The genetics of human height and of growth problems

In regards to height, the researchers found several genes that may represent good therapeutic targets for growth problems often observed in children. For example, they demonstrated that variations that inactivate the gene STC2 increase the height of individuals who carry them in their DNA by acting on certain growth factors. "In this sense, evaluating whether drugs that block STC2 activity could have an impact on growth seems to us very promising," concluded Lettre.

Citation: Joel N. Hirschhorn, Panos Deloukas, Guillaume Lettre, et al. "Rare and low-frequency coding variants alter human adult height", Nature, February 1st, 2017. DOI:10.1038/nature21039

The rest is here:
The Genetics Of Human Height Revealed - Science 2.0

"Human Genetics Market Research Report - Global Forecast to 2024"

Human genetic market, by instruments (Accessories, Device), by end-user (Hospital, Clinic, Research center), by method (Prenatal, Molecular, cytogenetic, presymptomatic), by application (Forensic science institute) - Global Forecast 2024

Key Players of Human Genetics Market:

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Major Human Genetics Market by Methods: Cytogenetic, Molecular, Presymptomatic and Prenatal.

Human Genetics Market by Product: Consumables, Devices and Accessories.

Human Genetics Market by Applications: Research, Diagnostic and Forensic Science and Others.

Human Genetics Market by End-Users: hospitals, clinics, research centers and forensic departments.

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Human Genetics Market Growth Influencer:

The growth driver includes advancement of genetics testing technologies, rising genetic diseases, and rising awareness in terms of increasing knowledge about the potential benefits in genetic testing. Furthermore, aging population and increasing incidence of cancer cases are the other factors propelling growth of human genetics market.

The market for screening the newborns, diagnosing rare and fatal disorders, and predicting the probability of occurrence of abnormalities & diseases are likely to expand. Particularly, genetic tests to screen the newborns are expected to expand immensely over the coming years. Furthermore, the genetic disorders caused by microorganisms such Zika virus is one of the major concern behind of microcephaly. Microcephaly is a birth defect that is associated with a small head and incomplete brain development in newborns that transferred from mother to her child. Such, diseases are expected raise the application of the human genetic studies there by driving by the market. However, the high costing instruments and lack of experienced professionals are the major restraints for the growth of Human genetics market.

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Human Genetics Market:

Genetics is the study of genes, their functions and their effects. Among the various types of genetics such as molecular genetics, developmental genetics, population genetics and quantitative genetics, human genetics is the study that deals with the inheritance occurs in human beings. It encompasses a variety of overlapping fields such as classical genetics, cytogenetic, molecular genetics, genomics and many more.

The study of human heredity occupies a central position in genetics. Much of this interest stems from a basic desire to know who humans are and why they are as they are. It can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life. At a more practical level, an understanding of human heredity is of critical importance in the prediction, diagnosis, and treatment of diseases that have a genetic component.

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Human Genetics Market Is Expecting Worldwide Growth By 2024 ... - Digital Journal