Posted on Autism

New Genetic Discovery Sheds Light on Autism

DNA and autism
DNA and autism

Researchers have uncovered a new genetic link to autism, offering fresh insights into why the condition is more common in males. The breakthrough, detailed in The American Journal of Human Genetics, identifies variants in the DDX53 gene, located on the X chromosome, as key contributors to autism. This finding provides a deeper understanding of the biological mechanisms behind autism and could improve diagnosis and treatment.

A Genetic Clue to Male Prevalence

Autism affects more males than females, and this new study helps explain why. Researchers at The Hospital for Sick Children (SickKids) in Canada, in collaboration with the Istituto Giannina Gaslini in Italy, analyzed families with autistic members. They discovered that specific variants in the DDX53 gene were maternally inherited in individuals with autism—most of whom were male.

“By pinpointing DDX53 as a key player, particularly in males, we can better understand the biological mechanisms at play and improve diagnostic accuracy for individuals and their families,” says Dr. Stephen Scherer, Senior Scientist at SickKids and a lead researcher in the study.

The DDX53 gene is involved in brain development and function but had not previously been linked to autism. Another gene nearby, PTCHD1-AS, also showed potential involvement. For example, one boy and his mother, both autistic with minimal support needs, had a genetic deletion that included parts of DDX53 and PTCHD1-AS.

International Collaboration Strengthens Findings

This discovery resulted from a global effort involving institutions in Canada, Italy, and the United States. Using databases like Autism Speaks’ MSSNG and the Simons Foundation Autism Research Initiative, researchers identified 26 more individuals with similar DDX53 variants, strengthening the evidence for its role in autism.

Lead author Dr. Marcello Scala, from the Istituto Giannina Gaslini, highlighted the importance of this discovery:
“This gene has long eluded us. Linking DDX53 to autism not only advances clinical genetic testing but also opens up new areas of research into the behavioural traits associated with autism.”

The Bigger Picture: The Role of the X Chromosome

In a related study published alongside this one, Scherer and his team identified 59 genetic variants on the X chromosome-linked to autism. These included DMD, HDAC8, and FGF13, among others. Importantly, some of these genes, like FGF13, show sex-specific differences, further emphasizing the role of the X chromosome in autism’s male predominance.

“These findings provide new insights into the biology of the X chromosome in autism,” says Scherer. “They suggest that certain genes, such as DDX53 and FGF13, should be explored further.”

Rethinking Autism Research

Interestingly, the study points out a challenge in current research models: DDX53 does not have an equivalent gene in commonly used lab animals like mice. This means researchers must rethink how they study autism in the lab.

“Insights from this study could significantly influence the design and interpretation of autism research, particularly in developing new models,” Scherer adds.

Hope for Families

These findings could pave the way for more precise diagnostic tools and treatments for autism, bringing hope to millions of families worldwide. Scherer emphasizes the importance of these discoveries:
“Both studies provide even more evidence that complex neurobehavioral conditions like autism can sometimes have simple biological underpinnings.”

By identifying key genetic factors like DDX53, researchers are not only unraveling the mysteries of autism but also laying the groundwork for more effective support for autistic individuals and their families.

Posted on Autism

Autism: A Global Health Challenge Affecting Millions

Vast under-treatment of diabetes seen in global study

A recent global study has shed light on the significant impact of autism, revealing that an estimated 61.8 million people worldwide were autistic in 2021. This equates to 1 in every 127 individuals. Conducted as part of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021, the analysis highlights autism as one of the top ten contributors to non-fatal health burdens among youth under 20.

Key Findings: Disparities in Prevalence

The study highlights essential disparities in autism prevalence based on sex and region:

  • Sex Differences: Autism is nearly twice as prevalent in males, with 1,065 cases per 100,000 males globally, compared to 508 per 100,000 females.
  • Regional Variations: High-income Asia Pacific countries, such as Japan, have the highest prevalence at 1,560 cases per 100,000 people. In contrast, Tropical Latin America and Bangladesh report the lowest prevalence rates.

Despite these differences, autism is a universal condition affecting people across all age groups and regions. Rising rates of disability-adjusted life years (DALYs) associated with autism are closely linked to global population growth.

Urgent Need for Action

The findings underscore the importance of early detection and sustained support for autistic individuals and their caregivers. Key areas for improvement include:

  • Early Detection and Diagnosis: Enhanced diagnostic tools are vital, especially for adults and individuals in low- and middle-income countries where access to care is often limited.
  • Lifelong Support Services: Autism requires tailored interventions that adapt to the needs of individuals throughout their lives, encompassing education, employment, and independent living.
  • Caregiver Support: Families and caregivers often face significant challenges; resources and programs to alleviate their burden are essential.
  • Addressing Comorbidities: Targeted efforts to mitigate risks such as suicide and other health complications can improve overall outcomes.

Policy Implications

This research provides a strong foundation for shaping global policies to improve the quality of life for autistic individuals. Expanding geographic data coverage will help refine interventions while prioritizing funding for autism-focused initiatives can bridge gaps in care and access. By addressing these challenges, governments, healthcare systems, and communities can better support the millions of autistic people worldwide.

In conclusion, autism remains a pressing global health challenge, demanding coordinated action to ensure that all individuals can achieve their fullest potential. Early detection, inclusive services, and compassionate support are key to transforming outcomes and improving lives.

Posted on Multiple Sclerosis

Pioneering a Vaccine to Prevent Multiple Sclerosis and Other EBV-Related Diseases

Fibromyalgia may worsen opioid addiction, study finds

In a groundbreaking step toward combating serious illnesses linked to the Epstein-Barr virus (EBV), a spin-off from Helmholtz Munich called EBViously officially launched on 11 November 2024. The company is on a mission to develop a vaccine that could prevent a wide range of diseases, including infectious mononucleosis, certain cancers, chronic fatigue syndrome (ME/CFS), and, most notably, multiple sclerosis (MS)—a devastating autoimmune disease of the nervous system.

Why Target EBV?

Epstein-Barr virus, part of the herpes virus family, is one of the most common viruses in the world, with an estimated 90% of the global population infected. While infections during early childhood are usually mild, later infections can lead to mononucleosis (“mono”) and set the stage for long-term complications like ME/CFS and MS.

Recent research has identified EBV as the leading risk factor for MS. In this condition, the immune system mistakenly attacks the nervous system, causing symptoms like fatigue, vision problems, and mobility issues. By preventing EBV infections, EBViously’s vaccine has the potential to dramatically reduce the risk of developing MS.

An Innovative Vaccine

EBViously’s vaccine candidate, EBV-001, is built on cutting-edge technology using virus-like particles (VLPs). These particles mimic the Epstein-Barr virus’s structure but contain no viral genetic material, making them non-infectious. This design “tricks” the immune system into launching a defense against EBV without exposing the body to the actual virus.

Preclinical studies in animal models have shown highly promising results, with the vaccine successfully triggering targeted immune responses. According to Prof. Wolfgang Hammerschmidt of Helmholtz Munich, “Our approach pulls the virus’s teeth while preserving its protein combinations, ensuring the immune system is well-prepared to combat EBV.”

Hope for MS and Beyond

The vaccine’s benefits could go far beyond protecting against mono. By stopping EBV infections in their tracks, the vaccine could also help prevent secondary diseases like ME/CFS, reduce the risk of EBV-associated cancers (including lymphomas), and even protect transplant patients from post-transplant lymphoproliferative disease. Most significantly, it could lower the risk of developing multiple sclerosis, offering hope to millions who live with or are at risk of this chronic condition.

Fast-Tracking Clinical Trials

With approximately 12 million euros in funding so far, including support from the Helmholtz Validation Fund and DZIF, EBViously is pushing to bring its vaccine to clinical trials as quickly as possible. The vaccine is being developed and manufactured under stringent Good Manufacturing Practice (GMP) standards in collaboration with prestigious partners like Ludwig Maximilians University of Munich and TUM University Hospital.

Dr. Sebastian Goy, CEO of EBViously, emphasizes the urgency of the mission: “The founding of EBViously is a major step toward accelerating the clinical development of EBV-001. We are optimistic that this vaccine will protect millions worldwide from serious diseases caused by EBV, including multiple sclerosis.”

A Vision for the Future

With plans to secure additional investors, EBViously is racing toward the goal of making EBV-001 a reality. If successful, this vaccine could not only transform the way we think about MS prevention but also mark a new era in the fight against EBV-related diseases.

For those at risk of MS and other debilitating conditions, EBViously represents more than a vaccine—it’s a symbol of hope for a healthier, brighter future.

Posted on Cardiovascular disease

Moderate Wine Consumption May Support Heart Health in At-Risk Individuals Following a Mediterranean Diet

New research published in the European Heart Journal reveals that drinking small to moderate amounts of wine as part of a Mediterranean diet may help reduce the risk of serious cardiovascular diseases in individuals with elevated health risks.

The study, led by Professor Ramon Estruch of the University of Barcelona and Hospital Clinic Barcelona, is part of a larger effort to explore the benefits of the Mediterranean diet. This diet emphasizes olive oil, vegetables, fruits, nuts, and fish, while minimizing processed and sugary foods. Participants in the study either had type-2 diabetes or other risk factors for cardiovascular disease, such as high blood pressure, high cholesterol, or a family history of heart conditions.

Accurate Measurement Yields Clearer Results

Previous studies on wine and heart health have had mixed results, often relying on self-reported consumption. To address this, the researchers used a more reliable method—measuring tartaric acid levels in participants’ urine. Tartaric acid, found naturally in grapes and wine, provides an objective measure of recent wine consumption.

The study followed 1,232 participants for four to five years, tracking their health outcomes. Researchers discovered that those who drank light to moderate amounts of wine (half to one glass per day) had a 50% lower risk of experiencing cardiovascular events, such as heart attacks and strokes, compared to those who drank little or no wine. Even lighter drinking, such as one glass per week up to half a glass per day, was associated with a 38% reduction in risk. However, drinking more than one glass per day eliminated these benefits.

A Heart-Healthy Lifestyle

Professor Estruch emphasized that moderate wine consumption is most beneficial when combined with a healthy diet and lifestyle. He noted, “The reduction in cardiovascular risk we observed with moderate wine consumption is significant—greater even than some medications like statins. This highlights the potential value of incorporating wine responsibly into a balanced Mediterranean diet.”

He also noted that while the findings are promising, they apply primarily to older adults in Mediterranean populations. The protective effects of wine appear to emerge after the age of 35 to 40, and the recommended amounts for women are half those for men.

Broader Implications

An editorial accompanying the study, authored by Professor Giovanni de Gaetano and colleagues from Italy, praised the innovative use of tartaric acid as a biomarker for wine consumption. They noted that while the findings strengthen the case for moderate wine consumption as part of a heart-healthy lifestyle, it is essential to consider broader factors such as drinking patterns and overall dietary habits.

The study underscores the importance of moderation. Drinking wine in excess can negate its benefits, making responsible consumption key to achieving positive health outcomes. Future research will continue to explore how dietary habits and lifestyle choices interact to affect heart health.

In summary, this research provides encouraging evidence that moderate wine consumption, as part of a Mediterranean diet, may support heart health—especially for individuals at higher cardiovascular risk.

4o

Posted on Diabetes, Diet

Low Glycemic Index Rice: A Global Solution for Fighting Diabetes

Scientists from the International Rice Research Institute (IRRI) and the Max Planck Institute are spotlighting low glycemic index (Low GI) rice as a potential game-changer in the fight against type 2 diabetes, a disease affecting millions worldwide.
Scientists from the International Rice Research Institute (IRRI) and the Max Planck Institute are spotlighting low glycemic index (Low GI) rice as a potential game-changer in the fight against type 2 diabetes, a disease affecting millions worldwide.

What Is Low GI Rice?

The glycemic index (GI) measures how quickly foods raise blood sugar levels. High-GI foods, like white rice, are digested quickly, causing sharp spikes in blood sugar—a significant factor in diabetes risk. Low-GI foods digest more slowly, releasing sugar gradually and helping to control blood sugar levels.

Most white rice, a staple food for billions, has a high GI of 70–94. Low GI rice, with a GI below 55, is designed to be a healthier alternative while still maintaining the flavour and texture people love.

Why It Matters

Diabetes is a growing health crisis worldwide, with over 537 million people affected in 2021—a number expected to exceed 780 million by 2045. While Asia faces the greatest impact due to its high rice consumption, other regions like Africa, Latin America, and the Middle East are also at risk as rice becomes a larger part of their diets. Introducing Low GI rice could help slow the rise of diabetes across the globe.

Health and Economic Benefits

Low GI rice has the potential to make a big difference. By reducing blood sugar spikes, it can help prevent diabetes and support better health for people who already have the disease. It could also open up new markets for farmers, offering a premium product for health-conscious consumers.

Some countries, like Bangladesh and the Philippines, have already started using Low GI rice varieties that were originally bred for climate resilience. However, there’s still work to do—early versions of Low GI rice often have a firmer texture, which some people find less appealing. Researchers are working to improve this while keeping the rice affordable and easy to grow.

A Healthier Future

Low GI rice isn’t just about rice. The science behind it could be applied to other staple foods like wheat and potatoes, helping to create healthier options worldwide. Governments, scientists, and businesses are working together to make Low GI rice more available, affordable, and popular.

As diabetes continues to rise, Low GI rice offers a simple, practical way to improve diets and health worldwide. By bringing healthier choices to people’s tables, this innovation could help build a future where fewer people face the burden of diabetes.

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