Healthcare (Commonwealth Union) – Neurodegenerative diseases such as Alzheimer’s disease, Parkinson’s disease and Huntington’s disease continue to be a serous concern with a rapidly aging population across the world. The need for treatments that can be fast tracked have become more important than ever.
Scientists are discovering a previously unknown layer of epigenetic information within our cells. Understanding how this hidden language works could open new possibilities for tackling various disorders.
Many people describe our genetic code as a “blueprint” — a set of instructions stored in DNA that guides the formation and function of our bodies.
However, epigenetics reveals a far more complex picture. Researchers have found that chemical markers attached to DNA can control gene activity, determining which genes are switched on or off. These modifications help highlight certain sections of our genetic code while keeping others inactive.
This emerging understanding suggests that DNA is less like a fixed blueprint and more like a cookbook, where epigenetic mechanisms combine and adjust genetic “ingredients” to create the unique outcome that is each living organism.
The University of Cambridge researchers from the laboratory of Professor Sir Shankar Balasubramanian FRS have uncovered what may represent an additional layer of biological information hidden within mammalian DNA.
The team created a new sequencing technique, known as SCoTCH-seq, which is capable of identifying and mapping different versions of cytosine — the “C” nucleotide among the four DNA bases represented by A, C, G and T.
This advanced method can detect three distinct forms of cytosine across both strands of the DNA molecule, enabling scientists to study these chemical features in stem cells for the first time.
Two modified forms of cytosine — methylation and hydroxymethylation (hmC) — play important roles in epigenetic regulation. While methylation is well understood, hmC remains a largely unexplored and debated component of DNA biology. Although evidence suggests it is crucial for normal development, scientists are still working to determine its exact purpose and how it influences gene activity.
Dr Jack Hardwick, the lead researcher and former member of the group, believes that hmC may hold crucial information that guides cells in interpreting and controlling their genomes.
If this theory is correct, decoding this hidden layer of information could help scientists monitor how cancers develop and discover new approaches for treating neurodegenerative disorders.
Jack indicated that they may be able to use this information to forecast patterns of gene activity and it could play an important role in disease diagnosis and in tracking how conditions progress.
The breakthrough was achieved through a sequence of major advances at Cambridge, including the creation of long-lasting embryonic stem cell lines and the development of advanced DNA sequencing methods. Researchers are now working to understand how epigenetic signals are stored throughout the DNA double helix, uncovering previously unknown layers of information that shape who we are. This is how the discovery was achieved.
Jack spent five years as part of the Balasubramanian Group, first as a Postdoctoral Research Associate and later as a Leverhulme Trust Early Career Fellow in the Yusuf Hamied Department of Chemistry. He has since moved on to lead the Laboratory of Neuroepigenetics at the University of Bristol.
Interestingly, Jack’s early years in education were far from conventional. His energetic nature at school resulted in him being excluded from his final chemistry class. After leaving school at 16, he initially dreamed of becoming a musician. He spent several years composing music for films and advertisements while supporting himself through various jobs.
Over time, Jack developed a passion for teaching and discovered that obtaining a degree was essential to pursue that path. Returning to education was not easy. He completed part of a Maths A-level at a local school, studying alongside students much younger than him. After successfully completing this stage, he progressed rapidly to the Science Foundation Year at the University of Southampton.
Jack said, “That’s when I first became interested in these epigenetic combinations, and how they could affect the structure of DNA.”
