Researchers discover 102 genes associated with autism

In the largest genetic sequencing study of autism spectrum disorder (ASD) to date, researchers have identified 102 genes associated with risk for autism.

The discovery shows significant progress towards teasing apart the genes associated with autism from those associated with intellectual disability and developmental delay, conditions which often overlap.

According to the World Health Organisation (WHO), one in 160 children has an autism spectrum disorder (ASD).

ASDs begin in childhood and tend to persist into adolescence and adulthood. In most cases the conditions are apparent during the first five years of life.

"This is a landmark study, both for its size and for the large international collaborative effort it required.

"With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches," said Joseph D Buxbaum, Director of the Seaver Autism Center for Research and Treatment at Icahn School of Medicine at Mount Sinai.

For the study published in the journal Cell, an international team of researchers from more than 50 sites collected and analyzed more than 35,000 participant samples, including nearly 12,000 with ASD, the largest autism sequencing cohort to date.

Using an enhanced analytic framework to integrate both rare, inherited genetic mutations and those occurring spontaneously when the egg or sperm are formed, researchers identified the 102 genes associated with ASD risk.

Of those genes, 49 were also associated with other developmental delays.

The larger sample size of this study enabled the research team to increase the number of genes associated with ASD from 65 in 2015 to 102 today.

In addition to identifying subsets of the 102 ASD-associated genes, the researchers showed that ASD genes impact brain development or function and that both types of disruptions can result in autism.

"Through our genetic analyses, we discovered that it's not just one major class of cells implicated in autism, but rather that many disruptions in brain development and in neuronal function can lead to autism," said Buxbaum.

It's critically important that families of children with and without autism participate in genetic studies because genetic discoveries are the primary means to understanding the molecular, cellular, and systems-level underpinnings of autism.

"We now have specific, powerful tools that help us understand those underpinnings, and new drugs will be developed based on our newfound understanding of the molecular bases of autism," the researchers noted.
 

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This is how much vitamin B12 you should take dail

An essential requirement for the body, vitamin B12 is a water-soluble nutrient. Apart from building metabolism it helps in proper functioning of the brain, and DNA formation. It can be stored in your body for several years, and there are rare cases of serious B12 deficiency. However, a deficiency in this vitamin can lead to anaemia, weakness and fatigue, and in some instances, nerve damage.

• Diet: Following a completely vegetarian or vegan diet.
• Age: People over 50 have higher chances of being low on B12.
• Anaemia: Pernicious anaemia arises due to inability of the body to absorb B12 that synthesises RBCs.
• Surgery: Bowel resection or weight loss surgeries decrease B12 absorption.

A widely known fact is that it’s found in abundance in animal products like eggs, dairy, seafood etc. The daily recommended intake of vitamin B12 depends on various factors like age, gender and lifestyle. You can reach your daily vitamin B12 requirement by taking supplements. This is the ideal dosage, depending on your age:

Adults under 50 years of age
For people over 14, the RDI for vitamin B12 is 2.4 mcg, which can be met through diet. Supplements are usually not recommended for these people. Foods like eggs, tuna, and beef can be included in the diet. However, a need to take supplements may arise if any of the above factors hinder in the absorption or intake of B12.

Adults over 50 years of age                          
Older people are at higher risks of having vitamin B12 deficiency. With age, the body produces less stomach acid, which accesses B12 in food. 62 per cent of adults over 65 years of age are found to be short of the optimal blood levels. Thus, National Academy of Medicine recommends supplements and fortified foods to reach optimal levels of B12, like fortified coconut milk or fortified cereals.

Pregnant people
Pregnant people naturally require higher amounts of B12 compared to general population. Low levels of this nutrient have been linked to birth defects in infants. It can also put the infants at the risk of low birth weight. Thus, for pregnant people, the RDI is 2.6 mcg. A well-planned diet should suffice, or prenatal vitamins can be taken.

Breastfeeding women
According to doctors, breastfed infants with vitamin B12 deficiency are likely to experience developmental delay. They are also susceptible to lowered appetite and irritability. So, the RDI of vitamin B12 for breastfeeding women is 2.8 mcg.

Vegetarians and vegans
People following a rigidly plant-based diet are also required to follow the same recommendations. However, it’s harder for people under 50 to meet the RDI of 2.4 mcg, if they’re vegetarians or vegans. Some studies indicate that a dose of up to 6 mcg of vitamin B12 per day is ideal for vegans. There is no clarity on the same for vegetarians.

Vitamin B12 increases energy
B12 has been noticeably linked to improve energy levels, especially in people who are deficient and are taking supplements. A few studies suggest an intake of 1mg per day for a month, followed by a dose of about 125-250 mcg per day to keep up the ideal level of B12. The intake of B12 has also been associated with improving memory and mood, though there are not many scientific theories to support this.

Here are a few factors that can cause insufficient levels of vitamin B12:
Atrophic gastritis, in which your stomach lining has thinned. Pernicious anemia, which makes it hard for your body to absorb vitamin B12. Conditions that affect your small intestine, such as Crohn's disease, celiac disease, bacterial growth, or a parasite. Immune system disorders, such as Graves' disease or lupus.

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Discovery of new De novo mutation may lead to better treatment

It has been found in a recent study that developmental disorders affect certain skills of humans like attention, memory, language, and social interaction.

Although many new developmental disorders have been identified in recent years, there are many more which are left undiscovered.

In this study, the researchers analyzed genomic data from over 31,000 parent-child trios obtained from the UK's Deciphering Developmental Disorders Project.

Analysis of these trios yielded more than 45,000 'de novo' mutation (DNMs). They developed an improved method to test for the enrichment (over-representation) of damaging DNMs in individual genes.
 
One of the researchers, said: "We found 307 significantly enriched genes, 49 of which are novel. With all of these genes, we were able to explain about 51 per cent of the DNM burden in our dataset. We then modeled different underlying genetic scenarios to get an idea of where the remaining de novo burden lies and how we can go about finding it."

About 40 per cent of developmental disorders is caused by DNMs, equivalent to about one birth in every 295 in the UK alone. The prevalence of the disease increases with the age of the parents.

The disorders usually become visible during childhood and include severe diseases such as autism spectrum disorder, attention deficit hyperactivity disorder (ADHD), intellectual disability, and Rett syndrome.

A possible expectation is that the DNMs in the genes which are as yet undiscovered are less penetrant, i.e., they present symptoms in fewer people.

"We may need to adapt our system of gene discovery in order to capture these fewer penetrant genes," said a researcher.

The researchers also hope to increase their sample size in order to try to detect ever more genes associated with developmental disorders.

However, the identification of 40 new genes already provides valuable information to clinicians and to drug developers.

One of the lead researchers of the study, said: "Developmental delay is often caused by new mutations arising during the formation of sperm or eggs."

"By combining data on new mutations identified in the DNA of more than 30,000 patients, the scientists could implicate a role for 49 new genes in developmental delay."

"This study shows the power of large-scale international collaboration to advance our understanding of this disorder and improve diagnostics as well as patient management," added the Prof. 

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Omega-3 fatty acids during pregnancy reduces risk of premature births

Increasing the intake of omega-3 fatty acids during pregnancy reduces the risk of premature births, says a new research. While the length of most pregnancies is between 38 and 42 weeks, the earlier a baby is born, the greater the risk of death or poor health. Premature babies are at higher risk of a range of long-term conditions including visual impairment, developmental delay and learning difficulties.
 
The findings showed that increasing the daily intake of long-chain omega-3s lowered the risk of having a premature baby (less than 37 weeks) by 11 per cent (from 134 per 1,000 to 119 per 1,000 births). It also lowered the risk of having an early premature baby (less than 34 weeks) by 42 per cent (from 46 per 1,000 to 27 per 1,000 births) as well as decreased the risk of having a small baby by 10 per cent.

 Increasing the intake of omega-3 fatty acids during pregnancy reduces the risk of premature births, says a new research. While the length of most pregnancies is between 38 and 42 weeks, the earlier a baby is born, the greater the risk of death or poor health. 

Premature babies are at higher risk of a range of long-term conditions including visual impairment, developmental delay and learning difficulties.

The findings showed that increasing the daily intake of long-chain omega-3s lowered the risk of having a premature baby (less than 37 weeks) by 11 per cent (from 134 per 1,000 to 119 per 1,000 births). It also lowered the risk of having an early premature baby (less than 34 weeks) by 42 per cent (from 46 per 1,000 to 27 per 1,000 births) as well as decreased the risk of having a small baby by 10 per cent.

"There are not many options for preventing premature birth, so these new findings are very important for pregnant women, babies and the health professionals who care for them," said a researcher.

"We don't yet fully understand the causes of premature labour, so predicting and preventing early birth has always been a challenge. This is one of the reasons omega-3 supplementation in pregnancy is of such great interest to researchers around the world."

For the study,  the team looked at 70 randomised trials involving 19,927 women at low, mixed or high risk of poor pregnancy outcomes.

The optimum dose was a daily supplement containing between 500 and 1,000 milligrams of long-chain omega-3 fats (containing at least 500mg of DHA) starting at 12 weeks of pregnancy.

Premature birth, a critical global health issue and the leading cause of death for children under five years old worldwide, accounts for close to 1 million deaths annually. 

THIS IS ONLY FOR INFORMATION, ALWAYS CONSULT YOU PHYSICIAN BEFORE HAVING ANY PARTICULAR FOOD/ MEDICATION/EXERCISE/OTHER REMEDIES.                                                                                                                                                                                                             PS- THOSE INTERESTED IN RECIPES ARE FREE TO  VIEW MY BLOG-                                                                                           https://gseasyrecipes.blogspot.com/   

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