Genetic basis of glaucoma

Northwestern Medicine scientists and international collaborators discovered mutations that cause improper drainage and a buildup of ocular pressure leading to one form of congenital glaucoma, and identified a path towards future treatments for the disease. Susan Quaggin, MD, chief of Nephrology and Hypertension in the Department of Medicine and director of the Feinberg Cardiovascular Research Institute, was senior author on the studies.

Glaucoma is a leading cause of blindness around the globe, and elevated intraocular pressure (IOP) is an important risk factor for the disease. Developmental defects in the anterior chamber of the eye, including a drainage vessel called Schlemm's canal, can lead to a particularly severe form of glaucoma in children known as primary congenital glaucoma (PCG).

Previous studies from Quaggin and her collaborators have shown loss-of-function mutations in the angiopoietin (ANGPT) receptor TIE2/TEK in families with PCG, and that ANGPT/TIE2 pathway activity is critical for Schlemm's canal development.

 In the JCI study, Quaggin and her colleagues used mice models to explore the importance of individual components of the ANGPT/TEK pathway, finding mice without the growth factor ANGPT1 had severely deformed and small Schelmm's canals. In addition, loss of TIE2/TEK, the angiopoietin receptor, had a similar effect.

Both ANGPT1 and TIE2/TEK are essential to form the drainage system of the eye to regulate intraocular pressure and prevent Glaucoma. Researchers found two human subjects with loss-of-function mutations in ANGPT1 within an international group of PCG patients, further supporting a causative role for ANGPT1 in the disease.

In the PNAS study, Quaggin and her colleagues searched for ways to influence the molecular pathway they'd identified. In particular, inhibition of TIE2/TEK has been linked to vessel leakage and inflammation, so finding a way to activate TIE2/TEK was a priority. Using mouse models, investigators found inhibition of a protein called VEPTP allowed ANGPT2 to be used as a TIE2/TEK activator, providing a blueprint for a pharmacological solution.
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Effects of parents' lifestyle on their children

The importance of parents' characteristics for their children's health is explained by poor living conditions in childhood lead to poverty in adulthood-which affects health and
the transmission of sound or ill health to children. Beyond the obvious common genetic inheritance across generations, parents' health also has an impact on their children's health by imparting habits and lifestyles.

Our research found that if a parent smoked when their child was young, the child was much more likely to smoke as an adult. A person's obesity in later life was more frequent when their parents were smokers and had a problem with alcohol. Obesity was one not only associated with parents having a problem with alcohol it was also associated with parent being smoker. If a person's father smoked when they were 12, they were almost twice as likely to smoke than people whose father did not smoke at all.

If mothers smoked, it increased the risk of their daughters smoking – but not their sons. The risk that a person would smoke was also higher among those whose father was a manual worker, and who had experienced periods of poverty during their childhood. Our findings should give pause for thought to those who devised the new NHS plans to stop smokers or obese patients from having surgery unless they quit smoking or lose weight.

The decision assumes that these patients' poor health is self induced, so they are made to choose between facing the consequences of their lifestyle or demonstrating a commitment to change. These sorts of public health policies don't take into account that lifestyle is strongly associated with circumstances beyond a person's control, especially their childhood circumstances and their parents' health and lifestyles.

Restricting their access to treatment appears especially unfair when people do not have equal opportunities to be in good health and to adopt healthy lifestyles. People would only be responsible for the share that isn't linked to their childhood conditions or their parents' choices. The study shows that, even without making this distinction between responsibility and true responsibility, the control of people on their health choices and their health status is limited.
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Post trauma stress disorder may increase the risk of lupus

Lupus is an incurable autoimmune disease that causes kidney inflammation and can affect many organs in the body like joints, skin, blood cells, brain, heart, lungs and kidney.

Lupus can be difficult to diagnose because lupus flares can be as minor as a rash, but can also come with muscle pain, joint pain and fatigue. Severe flare ups can cause fluid to build up around the heart and cause kidney failure.

Women who have post traumatic stress disorder PTSD or have experienced trauma may develop lupus. There is a correlation between PTSD and lupus in women than any other risk factor.

PTSD has been associated with other autoimmune diseases like cardiovascular problems. PTSD creates constant state of anxiety and defense. In these states, the heart rate goes up, and cortisol release is less controlled, which leads to an inflammation. This stress response causes lupus.

Lupus is an enigmatic disease; it affects different organs, the disease can be genetic, it may be triggered by infections, drugs and sunlight. Presently, there is no cure for lupus, the available treatments can control the symptoms.
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Effects of long, mysterious strip of RNA on sperm count

Scientists have discovered part of genetic material known as lncRNAs that help sperm develop. Male mice lacking a particular lncRNA have low sperm count, this shows that lncRNAs could represent novel infertility drug targets.

The strands, called long non-coding RNAsor lncRNAs don't seem to encode proteins, but have been implicated in everything from cancer to brain function. Many are located in the testes, suggesting they could contribute to infertility.

Researchers collected and measured lncRNA levels during the process of cellular differentiation that leads to sperm production. They found that specific lncRNAs are associated with each stage of sperm development.

The researchers also identified lncRNAs and mRNAs that are testes-specific -- that is, not found in other human or mouse tissues. Genetically-modified male mice lack one particular lncRNA. They used these mice to assess how the loss of this one lncRNA affects overall mouse fertility.

 Mice provide a model to study human sperm development as the process is highly conserved between the two species. Researchers discovered massive changes in lncRNAs produced in cells that eventually increase mouse sperm. Each stage of sperm development was associated with different lncRNAs. This shows that lncRNAs are important for creating complex biological process.

Many of the lncRNAs were strictly found in mouse testes, a subset of lncRNAs are able to escape gene silencing processes that help turn off unnecessary genes on the X and Y sex chromosomes during sperm development. The X and Y sex chromosomes determine whether a sperm will produce a male or female embryo. lncRNA could serve as a potential therapeutic target for male infertility drugs.
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Genetic blood tests can expose cancer

Genetic blood test might expose different types of cancer at early stage,
the blood test discovered blood from DNA fragments released by cancerous tumours.

Examining DNA fragments for mutations found in cancer- causing genes leads to the discovery of blood of many early stage cancers. It exposed colon, breast, lung and ovarian cancers.

Early detection of cancers can leads to effective treatment from onset and save many lives, the test can screen out people without cancer. Genetic blood test for cancer must expose DNA mutations linked to cancer and ignore harmless mutations that is always present in healthy humans.

Exposing cancer and early treatment is the most important aspect of the discovery, differentiating deadly cancers that will hurt people from cancers that may not is very important for the success of the blood test.
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How an egg changes to embryo

Changing of an egg into a developing embryo is one of life's most remarkable development in human.

As an egg develops, it accumulates large mRNAs from the mother because it will not have time to create new mRNAs during the rapid development into embryo.

Messenger RNA (mRNA ) is a large family of RNA molecules that carries genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.

The maternal mRNAs are used for a short period of time before the embryo starts synthesizing its own mRNAs. About two to four cell divisions occur before the change.

When fertilized, the egg becomes an embryo, the egg cell becomes active, development starts and it changes into an embryo.

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Impacts of proteins on immune system

Different genetic make-up can impact on the activity of the immune system and our ability to fight cancer.

Proteins are made up of thousands of smaller units called amino acids, which are attached to one another in long chains.

Proteins do most of the work in cells and are required for the structure, function, and regulation of the body's tissues and organs.

 A protein called ULBP6 leads to the removal of damaged cells. There are two types of this protein found in different people.

The ULBP6 protein is found on the surface of damaged cells, including several types of cancer cells, and acts as a signal to white cells in our immune system that the damaged cell should be killed.

There are two major types of protein in the population and people who inherit a certain subtype have been shown to have a poor outcome after stem cell transplantation, a procedure used to treat leukemia, which is commonly referred to as bone marrow treatment.

The two types of ULBP6 differ only by two amino acids out of a total of around 180 and it has important influence on patient outcomes. One form of ULBP6
 forms a very strong bond indeed with its receptor NKG2D on the immune system.

This shows why transplants work less well in some people, which is an important step on the path to developing better transplant therapy for more people living with blood cancer.

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Solution to hair loss

Dr Edward Ball, a leading UK hair transplant surgeon from specialist London centre The Maitland Clinic, said the common causes of hair loss are hormonal and genetic.

There are many causes of hair loss: stress, nutrient deficiency and illness. Regular exercise and sound sleep can restore the hair.

Apart from all these, testosterone derivative dihydrotestosterone (DHT) can results in the hair cycle getting shorter and the hair follicles shrinking until they eventually disappear.

Some people are genetically more sensitive to the effects of DHT, which leads to rapid hair loss. Hair loss caused by DHT and a genetic disposition may required surgical treatments.

Scientists discovered cancer-related gene mutation

Cancer starts with production of abnormal cell growth of genetic mutation.

Researchers from University of Maryland led by Thomas Peterson examined similar mutations that are all over genome.

They used genetic data to examined subcomponents of protein domain and discovered that each domain carries out different roles and still share the same protein domain.

Researchers focused on mutations in one region of specific genes and mutations in similar region across families of protein.

Data about somatic variants from 5,848 patients was collected with some patients having 20 different types of cancers.

Detecting variants for tumorigenesis will expose the cause of tumour progression leads to production of drugs for families of genes that shows similar variation at functional level.

Roles of genetics in brain formation

Scientists at the Scripps Research Institute TSRI have discovered that neurons in brains that form networks in the absence of synaptic activity.

According to Maximov assembly of neutral circuits in areas required for cognition is controlled by intrinsic genetic programs that operate separately.

Daily experience makes every brain unique by changing the form and patterns of neuronal connections.

Our organs of vision, hearing, smelling, tasting and touching are very important in early postnatal life when synapses is formed.

Humans have innate behaviors that is consistent across generations, indicating that some synaptic connections are genetically predetermined.