Seeking novel drug targets for Autism

Genetic discoveries have invigorated autism research and raised the possibility of finding drug targets based on autism’s underlying pathophysiology, rather than merely treating symptoms.

An experimental group of drugs works wonders in a mouse-model of fragile X syndrome, the most common single-gene cause of autism. The drugs, which calm overactive metabotropic glutamate receptors (mGluRs) in the brain, restore social sniffing behaviour to normal levels, boost learning and memory, and reduce seizures related to the syndrome. Yet despite being the most promising new strategy for treating autism, these drugs are floundering once they reach human subjects.

The obscurity of the causes of autism means that doctors have little to offer the one in 100 people affected worldwide. Intensive behavioural therapies help some, but current medicines are limited to two drugs, risperidone and aripiprazole, used to treat aggression and irritability.

Read more: Seeking novel drug targets for Autism

An electroencephalogram measures brain connectivity, which, when combined with other measures,
may help delineate people with autism into subgroups with their own distinct biology

Source: SciencePhotoLibrary

Pineal Gland Detox: Spiritual, Mental and Physical Well-being

A tiny gland in the center of the brain named the pineal may seem insignificant, but researchers have found it to be vital for physical, mental and, many believe, spiritual health. Through poor diet, exposure to toxins, stress and modern lifestyle choices, the pineal gland becomes hardened, calcified and shuts down. To awaken this gland from its slumber, detoxification is necessary using diet and herbs, sunlight and pure water.

An important pea-sized gland

Pinecone shaped, the size of a pea and resting in the center of the brain, the pineal gland is small but powerful. It secretes melatonin, which regulates sleep/wake cycles, and serotonin, a neurotransmitter that fosters happy and balanced states of mind. Not only crucial for a good night’s rest, melatonin also slows aging and is a potent antioxidant. It helps to protect against electromagnetic pollution as well. Moreover, individuals have reported heightened feelings of empathy while supplementing with melatonin — leading to more harmonious interpersonal relationships.

Scientists suspect that N, N-dimethyltryptamine (DMT) is also produced by the pineal gland. This is the substance that gives shamanic botanicals like Psychotria viridis its hallucinatory kick. Dr. Rick Strassman, author of DMT, The Spirit Molecule, believes that the pineal gland produces DMT during mystical experiences as well as at birth and death. DMT is also associated with lucid dreaming,peak experiences, creativity and the ability to visualize.

Read more: Pineal Gland Detox: Spiritual, Mental and Physical Well-being

Source: WakeupWorld

Recent Progress in Genome Editing

Researchers develop a CRISPR-based technique that efficiently corrects point mutations without cleaving DNA.

Most genetic diseases in humans are caused by point mutations—single base errors in the DNA sequence. However, current genome-editing methods cannot efficiently correct these mutations in cells, and often cause random nucleotide insertions or deletions (indels) as a byproduct. Now, researchers at Harvard University have modified CRISPR/Cas9 technology to get around these problems, creating a new “base editor,” described today (April 20) in Nature, which permanently and efficiently converts cytosine (C) to uracil (U) bases with low error in human and mouse cell lines.

“There are a lot of genetic diseases where you would want, in essence, to swap bases in and out,” said Jacob Corn, scientific director of the Innovative Genomics Initiative at the University of California, Berkeley, who was not involved in the research. “Trying to get this to work is one of the big challenges in the field, and I think this is a really exciting approach.”

Read more: Recent Progress in Genome Editing

Illustration of DNA ligase, one of the cell proteins involved in repairing double-strand breaks in
DNAWIKIMEDIA; WASHINGTON UNIVERSITY SCHOOL OF MEDICINE IN ST. LOUIS

Source: wikimedia

Latest progress in diagnosis and treatment of Sarcomas

What are sarcomas?

Sarcomas are rare tumours of connective tissue, and as a result they can affect any part of the body. These are tumours of fat, nerves, bone, tendons, muscle and skin. They account for about 1% of all adult cancers and approximately 15% of pediatric tumours. In addition to the wide distribution of potential primary sites and the rarity, these are also very heterogeneous tumours with over 80 different histological subtypes.

These 3 factors make sarcomas extremely challenging to treat. Consequently, it is very important that sarcoma patients are managed by an experienced multi-disciplinary team, including surgeons, pathologists, radiologists, oncologists, specialist nurses, physiotherapists and pharmacists.

Diagnosis

In order to make the diagnosis a biopsy is required to confirm the presence of a sarcoma and the specific subtype. Because these tumours are so rare and heterogeneous it is essential that an experienced pathologist reviews the biopsy sample. Initial diagnostic radiology tests can include a CT and MRI scan depending on the location and type of sarcoma.

Treatment

The mainstay of treatment of localized sarcomas includes complete surgical removal with or without radiation. It is important that an experienced surgeon performs surgery as improperly performed surgery can have an impact on outcome.

Read more: Latest progress in diagnosis and treatment of Sarcomas

A sarcoma is a cancer. Sarcoma - malignant tumors made of cancellous bone, cartilage,

fat, muscle, vascular, and tissues.

Source: Designua/Shutterstock

Loneliness, Isolation Enhance CHD and Stroke Risk

YORK, UK — Although past research has shown a link between impaired social relationships and premature mortality, a new meta-analysis suggests there may also be a significant association with increased risk for coronary heart disease (CHD) and stroke.

The review of 23 papers and 181,006 total patients showed a 29% increased risk for incident CHD for those who had poor social connections, shown through loneliness and social isolation measurements, compared with those with better connections. The lonely and isolated patients also had a 32% increased risk for stroke.

The investigators, led by Dr Nicole K Valtorta (University of York, UK), note that loneliness often contributes to impaired coping methods, isolation affects self-efficacy, and both have been associated with decreased physical activity and increased smoking.

They add that future studies are needed to assess whether targeting these social characteristics "can help to prevent two of the leading causes of death and disability in high-income countries." But for now, "health practitioners have an important role to play in acknowledging the importance of social relations to their patients."

Read more: Loneliness, Isolation Enhance CHD and Stroke Risk

Source: trinesty

A Clinical Review on Vitamin D in Schizophrenia

Vitamin D (vitD) is known for its essential role in calcium homeostasis and bone health. VitD is made endogenously in the skin from UVB radiation from sunlight. VitD is now considered as a potent neurosteroid hormone, critical to brain development and normal brain function, and is known for its anti-inflammatory property affecting various aspects of human health. VitD ligand-receptor, a receptor that mediates much of vitD's biological actions, has been found throughout the body including the central nervous system. VitD deficiency is common in patients with severe mental illness such as schizophrenia. Schizophrenia is a debilitating chronic mental illness characterised by positive symptoms, such as hallucinations and delusions, and negative symptoms including flat affect and lack of motivation. Several environmental risk factors for schizophrenia, such as season of birth, latitude and migration, have been linked to vitD deficiency. Recent studies have suggested a potential role of vitD in the development of schizophrenia. For example, neonatal vitD status is associated with the risk of developing schizophrenia in later life obesity, insulin resistance, diabetes, hyperlipidaemia and cardiovascular disease, which are commonly seen in patients with schizophrenia. It has been well established that vitD deficiency is related to these metabolic problems. The biological mechanism is most likely related to vitD's action on the regulation of inflammatory and immunological processes, consequently affecting the manifestation of clinical symptoms and treatment response of schizophrenia. Potential benefits of vitD supplementation to improve schizophrenia symptoms as well as physical health in patients with schizophrenia should be further explored in future studies.

Introduction

Vitamin D (vitD), the 'sunshine' vitamin, is widely known for its essential role in calcium absorption and bone health. VitD is created in mammals after the epidermis comes into contact with UVB light. UVB radiation catalyses the conversion of 7-dehydrocholesterol to previtamin D3 in the skin, which is then quickly converted into vitamin D3 (cholecalciferol) by the body. 25-hydroxyvitamin D [25(OH)D], the main circulating form of vitD, is used by clinicians to measure vitD levels in the body. VitD is also obtained through dietary sources. Fatty fish, fungus and eggs naturally contain high levels of vitD. In many countries, cereal, milk and other everyday foods are fortified with vitD. VitD is also readily available as a dietary pill. However, since most individuals lack the necessary amount of exposure to UVB light and do not consume enough dietary vitD, vitD deficiency has become a global pandemic. While vitD has long been associated with bone health and related diseases, research in the past decade has uncovered its widespread effects on other aspects of the human body. Studies have identified links between vitD and a multitude of conditions including various cancers, autoimmune diseases, cardiovascular diseases, infectious diseases and mental disorders.

Studies have unveiled the presence of vitD, vitD receptors (VDR) and related enzymes (CYP 27B1, CYP 24A1) in various regions of the brain, leading researchers to establish vitD as a neuroactive/neurosteroid hormone critical to brain development and normal brain function. Furthermore, VitD's possible role in depression has led researchers to explore its potential benefits in other mental illnesses.

Schizophrenia is a severe and debilitating mental illness characterized by chronic positive (hallucinations, delusions) and negative symptoms (lack of motivation, speech issues).

Read more: A Clinical Review on Vitamin D in Schizophrenia

Source: naturalhealth365/sbxsupplements

DNA: Past to Present

GEN celebrates DNA Day with a video retelling of the still-unfolding DNA story, from early structural revelations, to innovative technologies, to life-altering applications.

GEN videos are informative, entertaining, and encompass all aspects of biotechnology.

Republished for Information & Education. 

Video link: DNA: Past to Present

Source: GenVideos

Reason behind your itching, teary eyes

Do your eyes itch after you’ve been near a cat? Do they puff up or run with tears when pollen is in the air? Allergies of the eye affect about 20% of Americans each year, and are on the rise. The same inhaled airborne allergens — pollens, animal dander, dust mite feces, and mold — that trigger allergic rhinitis (the familiar sneezing, runny nose, and congestion) can lead to allergic conjunctivitis (inflammation of the conjunctiva, the lining of the eye). It’s not surprising that people with allergic rhinitis often suffer from allergic conjunctivitis as well.

About 50% of allergic conjunctivitis sufferers, who tend to be young adults, have other allergic diseases or a family history of allergies. About 80% of eye allergies are seasonal; the rest are perennial (year-round). The symptoms are itchy and red eyes, tearing, edema (swelling) of the conjunctiva or eyelid, and a mucous discharge. Although it can be uncomfortable, you can rest assured that it is not a threat to your vision.

Diagnosing allergic conjunctivitis

Allergic conjunctivitis usually can be confirmed by your doctor based on your symptoms. Testing is not usually needed to diagnose the condition, but skin testing (the same kind that’s done for other allergic reactions) may help identify the allergens causing your symptoms.

If your symptoms don’t quickly respond to treatment, see your doctor in case you have a different condition. Dry eye, in particular, can mimic the symptoms of allergic conjunctivitis.

Read more: Reason behind your itching, teary eyes

Source: Healthbeat

Scissor protein responsible for cancer spread

Aggressive cancer cells have been found to express higher amounts of a certain protein by scientists at the University of Bergen.

PITPNC1 controls a process where cancer cells secrete molecules which cut through proteins outside cell walls like scissors. This allows the cancerous cells to then enter the tissue and begin dividing and multiplying at a new site.

Dr Nils Halberg, a researcher at the University of Bergen said: “We discovered that the aggressive cancer cells that are spreading in colon, breast, and skin cancer contained a much higher portion of the protein PITPNC1, than the non-aggressive cancer cells.”

Using this knowledge, scientists can predict which cancer cells are becoming more aggressive and are likely to metastasize.

Read more: Scissor protein responsible for cancer spread

Source: labnews

Irregular periods could enhance risk of ovarian cancer

Young women with irregular menstrual periods may be at higher risk of developing—and dying from—ovarian cancer later in life, researchers found in a 50-year study of California women. The new research provides the first evidence linking abnormally long cycles or missed periods to higher ovarian cancer risk. It also challenges a longstanding hypothesis that such risk rises progressively with a woman’s total number of ovulations.

Having fewer ovulatory cycles is widely viewed as a protective factor against ovarian cancer. It’s the reason that hormonal birth control pills, pregnancy, and tubal ligations—which stop ovulation—have been thought to reduce risk for that disease. “This study is certainly curious, because it contradicts what we thought we knew about ovarian cancer and incessant ovulation,” says Mitchell Maiman, an OB/GYN at Staten Island University Hospital in New York.

Although ovarian cancer accounts for just 3% of all cancers in women, it’s the leading cause of gynecological cancer deaths. Less than half of all women diagnosed with ovarian cancer survive more than 5 years. Early symptoms, including abdominal discomfort and bloating, often go unnoticed or are misdiagnosed as irritable bowel syndrome. Because there are no routine screening tests and few markers to identify groups with increased risk of ovarian cancers, most cases are found when they are beyond the point of curing. Age is one risk factor—more than half of all ovarian cancers are diagnosed in women over the age of 63. Heredity is another—10% to 15% of women diagnosed with ovarian cancer have one or more known genetic risk factors.

Read more: Irregular periods could enhance risk of ovarian cancer

Ovarian cancer is the fifth leading cause of cancer death among women

Source: SciePro/Science Source