(Press-News.org) Scientists have uncovered that ‘gene misbehaviour’ – where genes are active when they were expected to be switched off – is a surprisingly common phenomenon in the healthy human population.
The team also identify several mechanisms behind these gene activity errors. This may help inform precision medicine approaches and enable the development of targeted therapies to correct expression.
Researchers from the Wellcome Sanger Institute, the University of Cambridge and AstraZeneca studied the activity of inactive genes in a large, healthy population for the first time. While rare at the individual gene level, they revealed misexpression is widespread across samples and involved more than half of the genes that should be inactive.
The findings, published today (24 July) in the American Journal of Human Genetics, shed new light on how our genetic code operates. The approach could be used in future research to investigate various complex diseases.
The human genome contains about 19,900 genes. These genes form part of the instruction manual for our bodies, encoding proteins needed to carry out cell functions. Proper gene regulation involves turning these gene instructions on and off as needed, depending on a cell’s specific role or environmental factors. When this regulation fails and a typically inactive gene is activated, or ‘expressed’, it can disrupt normal cell function1.
While gene misexpression has previously been linked to several rare diseases, such as congenital limb syndromes2, it is not known how often or why this may happen in the general population.
In this new study, researchers analysed blood samples from 4,568 healthy individuals from the INTERVAL study3. They used advanced RNA sequencing techniques to measure gene activity and whole genome sequencing to identify genetic changes behind irregular gene activity.
The team found that while misexpression events were rare at the individual gene level –occurring in only 0.07 per cent of genes – nearly all samples – 96 per cent – had some misexpression, with over half of the normally inactive genes showing misexpression. They also found these events can be caused by rare structural changes in the DNA4.
While these findings show that gene misbehaviour is common, it may not always lead to health issues. This new understanding of the prevalence and mechanisms of gene misexpression provides a valuable tool for further investigation into the complexities of human genetics and disease. This could help in diagnosing and developing treatments for conditions caused by misexpression.
Thomas Vanderstichele, first author of the study at the Wellcome Sanger Institute, said: “Until now, we have been looking at disease risk through the lens of highly active genes. Our study reveals ‘unusual’ gene activity is far more usual than previously thought and we need to consider the full picture, including genes that shouldn't be active but sometimes are. This is a big step towards more personalised healthcare, enabling a more comprehensive understanding of all the ways our genes impact our health.”
Dr Katie Burnham, author of the study at the Wellcome Sanger Institute, said: “Interestingly, while over half of genes occasionally misexpress, we find certain critical genes, particularly those governing development, rarely make such mistakes. This suggests that when these essential genes do misexpress, the consequences for health and disease are likely to be more severe.”
Dr Emma Davenport, senior author of the study at the Wellcome Sanger Institute, said: “The work of this pioneering large-scale study is testament to the incredible ‘genomics ecosystem’ in Cambridge that brought together experts from the Sanger Institute, the University of Cambridge and AstraZeneca. The findings open avenues for research into gene misexpression across different tissues, to understand its role in various diseases and potential treatments.”
END
'Gene misbehavior' widespread in healthy people
New insights into the prevalence and mechanisms of gene misexpression in a healthy population could help in diagnosing and developing treatments for complex diseases
2024-07-24
ELSE PRESS RELEASES FROM THIS DATE:
Arc Institute welcomes first Scientific Advisory Board members; appoints two new members to Board of Directors
2024-07-24
Today, Arc Institute, the scientific research organization pioneering new models for scientific discovery and translation, is announcing the creation of its Scientific Advisory Board and its first two Scientific Advisors, as well as the appointment of two new members to the Arc Board of Directors.
New Scientific Advisory Board
Dr. Carolyn Bertozzi, Ph.D., and Dr. Aviv Regev, Ph.D., join as the first two members of Arc’s Scientific Advisory Board and will provide strategic guidance, share their ...
NCCN Oncology Research Program celebrates 25 years of advancing cancer science
2024-07-24
PLYMOUTH MEETING, PA [July 24, 2024] — The National Comprehensive Cancer Network® (NCCN®)—an alliance of leading cancer centers—commemorates the 25th anniversary of the NCCN Oncology Research Program (ORP). The NCCN ORP is dedicated to seeking innovative, effective, and equitable cancer care through oversight and funding for cancer research and quality improvement projects. Over the past quarter-century, the NCCN ORP has managed a diverse portfolio of more than 180 research studies and quality improvement projects to improve quality and outcomes for people with cancer. The NCCN ORP has also provided project oversight to 75 NCCN Foundation® Young Investigator Award ...
From grey to green: unveiling the future of renewable e-methanol for cleaner shipping fuels
2024-07-24
Methanol is a crucial chemical feedstock and a potential green fuel, particularly for the shipping industry. Currently, its production predominantly relies on fossil feedstocks, leading to high greenhouse gas emissions. With the global push towards decarbonization, there is an urgent need to explore cleaner alternatives like renewable e-methanol. Based on these challenges, there is a need for in-depth research to develop sustainable methanol production methods.
A team of researchers from Tsinghua ...
A brittle interface with low modulus to improve the mechanical properties of multiphase ceramics: A unique design approach?
2024-07-24
Barium strontium aluminum silicate (BaxSr1−xAl2Si2O8, BSAS) ceramics possess both phase stability and resistance to water vapor corrosion, making them ideal materials for radome technology and electronic packaging. To address the low tolerance of BSAS ceramics to damage and defects, the introduction of nano-reinforcements is an effective approach to enhance their strength and toughness. SiC nanowires (SiCnws) exhibit high strength and hardness inherited from SiC ceramics, along with the excellent toughness and elasticity ...
Intelligent compaction: ensuring highway durability with advanced monitoring
2024-07-24
Highway construction often faces challenges in ensuring long-term subgrade performance due to traditional compaction quality control (QC) methods that rely on manual adjustments and sporadic testing. These methods are susceptible to human error, inefficiency, and incomplete assessments. Addressing these issues requires advanced, real-time monitoring systems. Such systems can provide comprehensive and accurate QC, highlighting the need for innovative technologies to improve highway construction standards.
Researchers from the University of Science and Technology Beijing, alongside partners from Hunan and China Renewable Energy Engineering ...
From trash to treasure: machine learning enhances organic waste recycling
2024-07-24
Biological treatment methods such as anaerobic digestion, composting, and insect farming are essential for managing organic waste, converting it into valuable resources like biogas and organic fertilizers. However, these processes often face challenges due to their inherent complexity and instability, which can affect efficiency and product quality. Traditional control strategies have limited success in addressing these issues. Therefore, advanced methods like machine learning (ML) are being explored to enhance prediction, optimization, and monitoring of these biological treatments, aiming to improve overall performance and sustainability.
A research team from Tongji University ...
g-Ta2AlC, A new electrical contact material
2024-07-24
Relays are extensively utilized in accelerators, satellites, rockets, and various advanced technology sectors. They play crucial roles in signal transmission, long-distance control implementation, and protection circuits, directly impacting the safety of aerospace and defense equipment systems. The selection of electrical contact material in a relay is crucial for its performance. Arc discharge, characterized by high temperature, heat, and energy, is a common occurrence during operation. Consequently, the arc erodes the electric contact material, ...
Reducing carbon dioxide to acetate with a polyaniline catalyst coated in cobalt oxide nanoparticles
2024-07-24
Acetic acid, also known as acetate, and other products that can be developed from acetic acid are used in a variety of industries, from food production to medicine to agriculture. Currently, acetate production uses a significant amount of energy and results in harmful waste products. The efficient and sustainable production of acetate is an important target for researchers interested in improving industrial sustainability.
A paper published in Carbon Future on July 9 outlines a method using a polyaniline catalyst with cobalt oxide nanoparticles to produce acetate through carbon dioxide electroreduction.
“The polyaniline catalyst with cobalt ...
AI for good: Insilico Medicine hosts IMGAIA Product Launch Event
2024-07-24
Insilico Medicine (“Insilico”), a clinical-stage generative artificial intelligence (AI)-driven drug discovery company, today hosts Insilico Medicine Generative AI Action (IMGAIA) webinar. The webinar featured opening remarks by Alex Zhavoronkov, PhD, Founder and CEO of Insilico Medicine. During the virtual event, Alex Aliper, PhD, co-founder and president of Insilico Medicine, announced the company’s sustainability initiative. Following this, the session on product launches and updates was delivered by key AI project ...
URI partners on study that tracked whale shark for record-breaking four years
2024-07-24
KINGSTON, R.I. – July 22, 2024 – A team of researchers at the University of Rhode Island and Nova Southeastern University in Florida have been tracking a 26-foot endangered whale shark – named “Rio Lady” – with a satellite transmitter for more than four years – a record for whale sharks and one of the longest tracking endeavors for any species of shark.
Whale sharks, which live from 80 to 130 years, are the world’s largest fish and third largest creature in the ocean – behind blue and fin whales. The size of a small school bus, they inhabit tropical oceans and ...
LAST 30 PRESS RELEASES:
What’s behind the enormous increase in early-onset gastrointestinal cancers?
Pharmacogenomics expert advances precision medicine for bipolar disorder
Brazilian researcher explores centenarian stem cells for aging insights
Dr. Xuyu Qian's breakthrough analysis of 18 million brain cells advances understanding of human brain development
Gene networks decode human brain architecture from health to glioma
How artificial light at night damages brain health and metabolism
For ultrasound, ultra-strength not always a good thing
Matching your workouts to your personality could make exercising more enjoyable and give you better results
Study shows people perceive biodiversity
Personality type can predict which forms of exercise people enjoy
People can accurately judge biodiversity through sight and sound
People diagnosed with dementia are living longer, global study shows
When domesticated rabbits go feral, new morphologies emerge
Rain events could cause major failure of Waikīkī storm drainage by 2050
Breakthrough in upconversion luminescence research: Uncovering the energy back transfer mechanism
Hidden role of 'cell protector' opens cancer treatment possibilities
How plants build the microbiome they need to survive in a tough environment
Depression due to politics and its quiet danger to democracy addressed in new book 'The Sad Citizen'
International experts and patients unite to help ensure all patients are fully informed before consenting to new surgical procedures
Melting glaciers could trigger more explosive eruptions globally, finds research
Nearly half of U.S. grandchildren live within 10 miles of a grandparent
Study demonstrates low-cost method to remove CO₂ from air using cold temperatures, common materials
Masonic Medical Research Institute (MMRI) welcomes 13 students to prestigious Summer Fellowship program
Mass timber could elevate hospital construction
A nuanced model of soil moisture illuminates plant behavior and climate patterns
$2.6 million NIH grant backs search for genetic cure in deadly heart disease
Pennsylvania’s medical cannabis program changed drastically when anxiety was added as a qualifying condition
1 in 5 overweight adults could be reclassified with obesity according to new framework
Findings of study on how illegally manufactured fentanyl enters U.S. contradict common assumptions, undermining efforts to control supply
Satellite observations provide insight into post-wildfire forest recovery
[Press-News.org] 'Gene misbehavior' widespread in healthy peopleNew insights into the prevalence and mechanisms of gene misexpression in a healthy population could help in diagnosing and developing treatments for complex diseases