In addition to mapping the patterns, the researchers uncovered previously unknown imprinting effects, where genes are expressed differently depending on whether they are inherited from the mother or father.
By Pesach Benson, TPS
Israeli researchers mapping DNA methylation — a process where a small chemical tag is attached to a person’s DNA — said they have uncovered insights into how genes are turned on and off, potentially revolutionizing how genetic diseases are diagnosed and treated.
DNA methylation is a process where a small chemical tag called a “methyl group” attaches to a specific part of the DNA molecule. This modification influences whether a gene is active or silent, without changing the underlying genetic sequence.
DNA methylation plays a crucial role in regulating gene expression, affecting everything from cell development to disease prevention.
Researchers from the Hebrew University of Jerusalem and Hadassah Medical Center — led by PhD student Jonathan Rosenski — identified more than 34,000 genomic regions with distinct “on/off” methylation patterns, many of which vary depending on the cell type.
“Our findings are a key step in understanding how DNA methylation regulates gene activity in different cell types,” said Hebrew University Prof. Tommy Kaplan, who guided Rosenski’s research.
“These findings open up new avenues for exploring diseases where gene regulation goes awry.”
The study was recently published in the peer-reviewed Nature Genetics journal.
In addition to mapping the patterns, the researchers uncovered previously unknown imprinting effects, where genes are expressed differently depending on whether they are inherited from the mother or father.
“The role of imprinting in regulating genes has long been a mystery, and our study provides new insights into how these inherited factors influence gene expression,” said Prof. Yuval Dor from the Faculty of Medicine at the Hebrew University of Jerusalem and Hadassah Medical Center, who also provided guidance.
“This discovery could help us understand rare genetic disorders that involve faulty imprinting processes.”
The researchers employed a combination of cutting-edge technologies, including machine learning and whole-genome sequencing, to map DNA methylation patterns across a wide variety of cell types.
This approach enabled them to analyze methylation at an unprecedented level of detail, providing a comprehensive map of gene regulation in the human genome.
According to Kaplan, “The integration of machine learning with genomic data allowed us to identify complex patterns that traditional methods couldn’t reveal. This technique was crucial for unlocking the full potential of our research.”
One of the most important aspects of the study is how it links DNA methylation to both genetic variations and parental imprinting.
“Our research shows that genetic variations don’t just affect the gene itself, but also the methylation patterns around it, influencing whether the gene is turned on or off,” Dor explained.
The findings have open up wide-ranging possibilities for understanding the molecular basis of genetic diseases and could lead to new diagnostic tools and therapeutic strategies.
One of the most immediate benefits could be the development of more accurate diagnostic tests for diseases that are influenced by methylation changes, such as cancer and genetic disorders.
“By identifying specific methylation patterns associated with diseases, we can create tests that detect these conditions earlier, improving the chances of successful treatment,” Kaplan said.
In cancer, for example, abnormal DNA methylation patterns are often present before tumors are detectable by traditional methods, making early diagnosis possible.
For rare genetic diseases like CHARGE syndrome, which is caused by faulty gene regulation, understanding methylation could lead to improved diagnostic techniques and more targeted treatments.
“This research provides us with new tools to better understand how genetic disorders like CHARGE syndrome develop and how they can be treated,” Dor remarked.
The study also holds promise for developing treatments tailored to an individual’s specific genetic and epigenetic profile. “Personalized medicine is the future, and this research is a critical step in that direction,” Kaplan explained.
“By analyzing a patient’s DNA methylation patterns, we can choose the most effective treatment for them, minimizing side effects and improving outcomes.”
Furthermore, the study could have implications for aging and age-related diseases, such as Alzheimer’s. As people age, changes in DNA methylation patterns can lead to the activation or silencing of genes associated with those diseases.
“Understanding how methylation changes over time will be essential for developing strategies to slow down aging and prevent age-related conditions,” Dor added.
The post New DNA mapping reveals gene ‘on/off’ switches, paving way for disease treatment appeared first on World Israel News.