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Scientists Identify Rare Damaging Gene Variants That May Increase Risk Of Schizophrenia

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Scientists Identify Rare Damaging Gene Variants That May Increase Risk Of Schizophrenia


Scientists have identified rare damaging gene variants associated with an increased risk of schizophrenia. 

The multi-center study led by the Icahn School of Medicine at Mount Sinai found the schizophrenia risk from these rare damaging variants is conserved across ethnicities, NeuroScienceNews reported. 

The study, published in the journal Nature Genetics, may open up new treatment strategies.

Schizophrenia is a type of mental illness that occurs in about one in every 100 people. The distressing condition affects how one thinks, feels, and behaves. Schizophrenic people often seem like they are distant from reality.

This study is the first of its kind to analyze schizophrenia risk across diverse populations, especially those of African ancestry. The study authors compared the DNA of people with schizophrenia with healthy people, and found the two risk genes–SRRM2 and AKAP11. The study tested datasets of 35,828 cases and 107,877 controls.  

“By focusing on a subset of genes, we discovered rare damaging variants that could potentially lead to new medicines for schizophrenia,” said lead author Dongjing Liu, a co-senior corresponding author of the study and Associate Professor of Psychiatry, Genetics, and Genomic Sciences, Neuroscience, and Neurosurgery, at Icahn Mount Sinai, according to the outlet. 

“Also significant: studying people of various ancestral backgrounds, we found that rare damaging variants in evolutionarily constrained genes confer a similar magnitude of schizophrenia risk among those different populations and that genetic factors previously established in predominantly white people have now been extended to non-whites for this debilitating disease,” Liu added.

Moreover, researchers identified a third gene, PCLO, as having a shared risk for schizophrenia and autism. This finding was most intriguing for scientists.

“It’s been known that there are genetic components shared among illnesses. Clinically, genes could look different in the same family. The same variant in the same family may cause autism in one family member and schizophrenia in another,” Alexander W. Charney explained. 

“The idea of the same gene having different manifestations is very interesting to us, as it could be useful when it comes to treating people in the clinic,” Charney continued.

However, researchers cautioned it was not compulsory for a person with schizophrenia to have a damaging variant in the identified novel genes. The multifactorial disease has no single cause.

Now, the researchers want to find the clinical role of these variants, and whether they can be attributed to a specific symptom of schizophrenia. In addition, they will try to identify drugs that might target these genes.

“We wanted to continue the insightful work of my and Dr. Charney’s deceased mentor, Pamela Sklar, MD, Ph.D., a psychiatrist, geneticist, and neuroscientist whose conceptualization of the study design to first select genes and then investigate them in a large number of cases and controls was a revolutionary idea,” said Laura M. Huckins, co-senior corresponding author on the study, and an Associate Professor of Psychiatry at the Yale School of Medicine.   





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Feeling Tired All The Time? Possible Causes And Solutions

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Long days of work, lack of sleep, and stress at the office can be the most common factors that make you feel tired. However, feeling “tired all the time” (TATT) without known reasons can be an indication of an underlying health issue that needs immediate attention.

Finding the exact cause of the lingering tiredness can be the first step toward solving the symptom.

Health conditions that cause fatigue:

1. Anemia – Anemia is one of the most common causes of fatigue. A person who has anemia does not have enough red blood cells in the body, causing symptoms such as tiredness, dizziness, feeling cold and crankiness.

Most often, anemia is caused by iron deficiency. Hence, the condition can be best resolved by including iron-rich foods in the diet and use of iron supplements.

2. Sleep Apnea – It causes the body to stop breathing momentarily during sleep. The condition can affect the quality of sleep and hence make you feel fatigued.

For milder cases of sleep apnea, lifestyle changes such as losing weight or quitting smoking can help solve the sleep disorder. In more severe cases where there is an obstruction in breathing, surgeries and therapies can help.

3. Diabetes – A person who has diabetes has changes in blood sugar level, which can cause fatigue. A patient who is already on diabetic medication can also experience tiredness as a side effect of the medication.

Early identification and taking the correct treatment is the key to managing diabetes. Losing extra weight and having a healthy diet also help in the treatment.

4. Thyroid – Thyroid diseases can be due to an overactive or an underactive thyroid gland. In people who have an underactive thyroid (hypothyroidism), the metabolism slows down leading to symptoms such as lethargy and fatigue. In people with an overactive thyroid (hyperthyroidism), the metabolism speeds up leading to fatigue and difficulty sleeping.

Right diet and lifestyle choices, along with medications, can help in thyroid management.

5. Infections – A person can show symptoms of fatigue when the body is fighting a viral or bacterial infection. Infections ranging from the flu to HIV can cause tiredness.

Along with fatigue, other symptoms such as fever, headache, body aches, shortness of breath and appetite loss can also accompany the infection. Treating the symptoms and taking adequate rest helps in faster recovery.

6. Food allergies – Fatigue may be an early warning sign of hidden food allergies and autoimmune disorders such as celiac disease. Identifying the allergen using a food allergy test or through an elimination diet can help in allergy treatment.

7. Heart disease – If you feel exhausted from an activity that used to be easy, then it is good to check your heart health, as fatigue can be an indication of underlying heart disease.

8. Depression/ anxiety – Fatigue can also be an indicator of a mental health disorder such as depression or anxiety. A combination of medication and psychotherapy can help relieve symptoms.

Lifestyle causes

Apart from serious health conditions, certain lifestyle habits such as dehydration, poor diet, stress and insufficient sleep can cause exhaustion. Having a well-balanced diet, regular exercise and routine sleep can help solve fatigue caused by lifestyle habits.

Published by Medicaldaily.com



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How To Overcome Your Sleep Debt And Reclaim Energy

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Picture this: you’re burning the midnight oil, studying or binge-watching your favorite shows, all at the expense of a good night’s sleep. Have you ever stopped to think about the toll it takes on your body and mind? The consequences can be more serious than you might realize.

Not getting enough sleep can translate into a multitude of issues, including weight gain, lack of focus, tiredness, a haze of confusion, and even depression. If you too are encountering similar issues lately then chances are you have a sleep debt.

Wondering what is sleep debt?

People from 13-18 years of age need 8 hours of sleep, whilst adults beyond that age will require at least 7 hours of snooze.

Sleep debt is a collection of the total hours you haven’t slept or traded your sleep for something else. Sleep debt keeps piling up as a person falls short of the total hours of sleep recommended for an adult, according to the Centers for Disease Control and Prevention.

And when you keep letting go of your sleep for other activities, the body adapts to the new normal and effects start to reflect on the energy levels, which deplete.

“However, like every other debt out there, this too has a repayment option,” Dr. Kunal Kumar, medical director of the Sleep Center at Einstein Medical Center in Philadelphia, told Livestrong.

Below are some expert-vetted ways you can pay back the sleep debt. (Courtesy: Livestrong and Sleepfoundation)

Just like financial debt, imagine sleep debt as a debt you owe to your body. It needs to be repaid. The good news is that catching up on sleep is indeed possible.

  • Maintain a set sleep schedule: Overhauling the sleep schedule is a pretty difficult task to achieve, and it’s best to do that gradually. Create a set sleep schedule by making some small changes to your routine. Instead of making abrupt shifts in your bedtime or wake-up time, adjust them gradually by 15 to 30-minute increments.
  • Minimize your gadget usage: Wind down activities and minimize electronic usage before bed to promote better sleep. Relax and prepare for quality sleep by dimming the lights and setting an alarm for 30 minutes to an hour before bed.
  • Reshuffle your sleeping arrangements: Are you finding it hard to get a good night’s sleep due to excessive sweating? Well, here’s a handy solution: consider upgrading to a cooling mattress or opting for cooling sheets. These innovative sleep essentials can help regulate your body temperature, and keep you comfortably cool throughout the night, ensuring a more blissful slumber. Memory foam pillows can work wonders in relieving neck and back discomfort in case you are struggling with backache.
  • Improve the bedroom environment: Create a sleep-friendly bedroom environment by adjusting the temperature for comfort, and blocking out disruptive lights, or noises that might disturb your restful slumber. And if your mattress, pillow, or sheets are worn out or no longer providing the support you need, consider treating yourself to new ones.

Published by Medicaldaily.com



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Omega-3 Fatty Acids Slow The Progression Of Amyotrophic Lateral Sclerosis: Study

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Omega-3 fatty acids are known for a range of health benefits, from promoting brain and heart health to reducing inflammation and protection against several chronic conditions.

In a new study, researchers found that omega-3 acids, especially the type found in foods like flaxseeds, walnuts, chia seeds, canola oil and soybean oil, can slow down the progression of amyotrophic lateral sclerosis (ALS).

It is a debilitating nervous system disease that gradually worsens over time and can be fatal. The condition results in a loss of muscle control and affects the nerve cells in the brain and spinal cord. It is also known as Lou Gehrig’s disease after the baseball player who was diagnosed with it.

The initial symptoms of the disease include muscle weakness, difficulty in walking and hand movements. The symptoms can slowly progress to difficulties with chewing, swallowing, speaking and breathing.

The exact cause of ALS is not known. However, around 10% of people get it from a risk gene passed down from a family member. It is estimated that more than 32,000 people in the U.S. live with the condition.

In the latest study, researchers from Harvard T.H. Chan School of Public Health in Massachusetts evaluated 449 people living with ALS in a clinical trial. The team assessed the severity of their symptoms, the progression of their disease, along with the levels of omega-3 fatty acids in their blood, for 18 months.

The study suggested that alpha-linolenic acid (ALA), a type of omega-3 found in plants, is particularly beneficial in slowing the progression of ALS. The participants with the highest levels of ALA had a 50% reduced risk of death during the study period compared to those with the lowest levels of ALA.

Researchers also found a reduction in death risk in participants who had eicosapentaenoic acid, the type of omega-3 fatty acid found in fatty fish and fish oil, and linoleic acid found in vegetable oils, nuts and seeds.

A previous study conducted by the same team suggested that a diet high in ALA and higher blood levels of the nutrient could reduce the risk of developing the condition.

“In this study, we found that among people living with ALS, higher blood levels of ALA were also associated with a slower disease progression and a lower risk of death within the study period. These findings, along with our previous research suggest that this fatty acid may have neuroprotective effects that could benefit people with ALS,” said Kjetil Bjornevik, the lead author of the study.

Published by Medicaldaily.com



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