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Anemia

Unveiling a New Gene: FANCX’s Crucial Role in Fanconi Anemia

Mutations in FANCX appear to cause a lethal form of Fanconi anemia, a finding that sheds light on unexplained pregnancy loss and offers new avenues for genetic screening.

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Fanconi anemia is a rare and aggressive genetic disorder that affects bone marrow function and increases cancer risk. Despite advances in treatment, many individuals with this condition do not survive into adulthood without bone marrow transplantation and regular cancer screening. However, a recent study has identified a new gene, FANCX, which plays a critical role in the Fanconi anemia pathway. This discovery sheds light on the severity of Fanconi anemia caused by mutations in FANCX.

Researchers from Rockefeller University’s Laboratory of Genome Maintenance, led by Agata Smogorzewska, have been studying the Fanconi anemia pathway and its associated genes for years. They discovered that FANCX is a previously unknown gene involved in this pathway, and its mutations result in a more severe form of Fanconi anemia.

The researchers began to suspect that Fanconi anemia patients hadn’t presented with FANCX mutations until now because these mutations are so severe. Without the protein produced by FANCX, it’s unlikely that a fetus will survive. Smogorzewska and her team started looking for FANCX mutations in families with multiple miscarriages, which led to the identification of several cases.

The findings of this study have significant implications for families affected by Fanconi anemia. With the help of Kasturba Medical College in India, the researchers identified a second family with two miscarriages, and studies revealed that the mutant protein from that family lacked normal function. This discovery may soon enable clinicians to screen for FANCX mutations during IVF, selecting only healthy embryos for implantation.

The study’s lead author, Agata Smogorzewska, emphasizes the importance of collaboration in rare disease research. She highlights the role of the Fanconi Cancer Foundation in facilitating research and coordinating publications with other researchers. The foundation makes a significant contribution to the advancement of knowledge in this area, allowing families, patients, clinicians, and researchers to collaborate and compete.

The discovery of FANCX as a new Fanconi anemia gene has far-reaching implications for our understanding of this condition and its management. It may soon be possible to help families that carry these mutations prevent Fanconi anemia in future pregnancies by screening for FANCX mutations during IVF. The researchers now know what they’re looking for, which brings hope to those affected by this rare and aggressive genetic disorder.

Anemia

Hidden Risk: Three Genetic Variants That Raise Clot Risk by 180%

Genetic research in Sweden has unveiled three new gene variants that dramatically increase the risk of venous blood clots, sometimes by up to 180%. These discoveries build on existing knowledge of Factor V Leiden and suggest that genetics plays a bigger role than previously thought, especially for clots in the legs that can lead to life-threatening pulmonary embolisms.

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The risk of blood clots is a serious concern worldwide, with venous thrombosis being one of the most common causes of death globally. A recent study from Lund University in Sweden has shed light on three genetic variants that significantly increase the risk of blood clots in the leg by up to 180%.

While arterial and venous blood clots have different causes and consequences, understanding the risk factors is crucial for prevention and treatment. In Sweden, over 10,000 people suffer from venous thromboembolism each year, with age being a strong risk factor.

“Venous thrombosis is a common disease that has always been somewhat overshadowed by arterial blood clots,” says Bengt Zöller, a specialist in general medicine at Skåne University Hospital and professor of general medicine at Lund University. “However, it’s essential to acknowledge its significance and take steps to prevent it.”
The risk factors for venous thrombosis include age, being overweight or tall, and lack of physical activity. Smoking is considered only a weak to moderate risk factor, while high blood pressure and high levels of blood lipids are associated with arterial clots, not venous ones.

Research suggests that commercial fishermen have a lower risk due to their diet rich in omega-3 fatty acids. Additionally, ultra-processed foods have been linked to an increased risk of blood clots, whereas plant-based diets may reduce this risk.
“Prophylaxis in the form of blood thinners may be particularly important if other risk factors are also present,” advises Zöller.

The three genetic variants identified by Bengt Zöller and his fellow researchers are ABO, F8, and VWF. These variants increase the risk of venous blood clots by 10-30% each, with an individual having five of these gene variants having a 180% higher risk.
“These genetic variants are present in all populations, making it essential to investigate how the number of risk genes affects the duration of treatment with anticoagulants after a blood clot,” concludes Zöller.

To prevent blood clots, one can take steps such as maintaining physical activity, monitoring blood pressure and lipid levels, quitting smoking, and eating a balanced diet rich in omega-3 fatty acids. Tailoring treatment based on risk assessment will become increasingly important in the future.
“Tailoring treatment based on risk assessment will become increasingly important,” concludes Bengt Zöller.

In summary, understanding the three genetic variants that increase the risk of blood clots by up to 180% is crucial for prevention and treatment. By acknowledging these risk factors, individuals can take steps to reduce their likelihood of developing venous thrombosis.
“Blood clot prevention is a vital aspect of healthcare, and awareness about the risks is essential,” emphasizes Zöller.

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Alzheimer's Research

“Boosting Green Hydrogen Production with MXene Catalysts”

MXenes are adept at hosting catalytically active particles. This property can be exploited to create more potent catalyst materials that significantly accelerate and enhance the oxygen evolution reaction, which is one of the bottlenecks in the production of green hydrogen via electrolysis using solar or wind power. A detailed study shows the potential of these new materials for future large-scale applications.

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The production of green hydrogen is set to play an increasingly important role in the future energy system, offering a nearly climate-neutral way to store chemical energy and produce climate-friendly fuels. However, one of the bottlenecks in this process is the oxygen evolution reaction (OER), which requires special catalysts to speed up the formation of hydrogen and oxygen at the electrodes.

Current catalysts are made from precious metals, but these are rare and expensive, limiting their use for large-scale industrial applications. Researchers at the Helmholtz-Zentrum Berlin (HZB) have now identified a promising alternative: MXene structures that can host catalytically active particles to enhance the oxygen evolution reaction.

MXenes are flaky structures made of carbon and transition metals, which can be used as carriers for embedding catalytically active particles. A team led by Michelle Browne at HZB has developed sophisticated variants of these materials, using different vanadium carbide MXene variants as the basis for their research.

One variant, V2CTx with 10% vanadium vacancies, was found to have a significantly larger internal surface area than the pure MXene. This structure was then embedded with Co0.66Fe0.34 catalyst particles using a multi-step chemical process in Michelle Browne’s laboratory at HZB.

The resulting material showed a significant enhancement in catalytic activity compared to the pure iron-cobalt compound, and further improved efficiency when used as a carrier for the catalytically active particles. The team was able to track changes in the oxidation numbers of cobalt and iron during the electrolytic reaction using in situ X-ray absorption spectroscopy at the SOLEIL synchrotron source.

The results provide initial insights into the complex interplay between the carrier structure, the embedding of catalytically active particles, and catalytic activity. MXene is a promising candidate for the development of innovative, highly efficient, and inexpensive catalysts, and its use as a carrier material could revolutionize the production of green hydrogen.

As Michelle Browne emphasizes, “Currently, the industry has not yet considered MXene as a carrier material for catalytically active particles on the radar. We are conducting basic research here, but with clear prospects: on applications.” The study’s first author, Can Kaplan, adds that their results make the technology really meaningful and interesting for industrial applications.

The potential of MXene catalysts to accelerate the oxygen evolution reaction and boost green hydrogen production is a promising path forward in the energy transition. With further research and development, these materials could play a crucial role in making green hydrogen more viable and cost-effective, ultimately contributing to a more sustainable energy future.

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Anemia

Groundbreaking Discovery in Chronic Renal Failure: A Promising Biomarker for Early Diagnosis and Prevention

Scientists have identified microRNA able to protect small blood vessels and support kidney function after severe injury.

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Chronic renal failure affects millions worldwide, including four million Canadians. Researchers at the Canadian hospital research centre, CRCHUM, have made a world-first breakthrough by identifying microRNA that can protect small blood vessels and support kidney function after severe injury. This advancement has significant implications for early diagnosis and prevention of the disease.

Previously, there was no reliable biomarker to evaluate the health of tiny capillaries in the kidneys or develop targeted approaches to preserve kidney function. A study published in JCI Insight reveals that miR-423-5p microRNA is a promising marker in the blood for predicting the microvascular health of the kidneys.

Researchers Marie-Josée Hébert and Héloïse Cardinal, along with Francis Migneault, have been studying the loss of peritubular capillaries, a conclusive indicator of chronic renal failure. These tiny blood vessels filter waste products out of the blood and transport oxygen and nutrients necessary for the organ’s functions.

Kidney injuries can lead to a decrease in small blood vessels, seriously disrupting kidney function. In people who have received a transplant, if kidney function is severely altered, the kidney’s survival is threatened. Using this biomarker, a test could be developed to evaluate the status of small blood vessels much earlier. Doctors could then better assess microvascular health in higher-risk patients.

This breakthrough has been confirmed in 51 transplant recipients and has shown potential for preventing further damage to kidneys. The researchers are now focused on alternative techniques to transport microRNA or a cocktail to the kidney, which may be useful for other patients with cardiac failure, pulmonary failure, or certain neurodegenerative diseases.

The discovery of miR-423-5p microRNA could have a significant impact on the health of Canadians and potentially lead to new treatments for various medical conditions. Researchers are currently exploring its potential in other areas, such as determining if existing medications impact small blood vessel health in kidney transplant patients.

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