This groundbreaking technological research, just released, has for the first time sequenced the entire genome of hundreds of single cells from the same human body, revealing the astonishing genetic diversity hidden within the body. This is not only a re examination of the complexity of life, but may also open a whole new door to understanding cancer, aging, and even neurological diseases.
Technological feat: first glimpse of cellular level 'gene kaleidoscope'
In a study that can be considered a "technological marvel", scientists from Harvard Medical School and other institutions completed whole genome sequencing of over 100 individual cells collected from a 74 year old male donor after his death.
The result is shocking. Researchers have observed widespread genetic disorder in cells: an extra chromosome arm here, a large segment of chromosome missing there, and smaller DNA fragments being rewritten, deleted, or replicated. In some cells, the Y chromosome is even completely lost.
Some of the cells were indeed very chaotic, "said Joe Luquette, one of the authors of the study and a bioinformatics expert at Harvard Medical School.
As a pilot project of an international alliance initiated by the National Institutes of Health (NIH) and costing $140 million, the ultimate goal of this study is to create a highly detailed "human cell genetic variation map" that provides a crucial benchmark for future medical research.
The imprint of a lifetime: how do we become a 'mosaic'?
Each of us accumulates changes in DNA throughout our lives, starting from the fertilized egg.
These changes may stem from minor errors in DNA replication during cell division, or from damage caused by environmental factors such as ultraviolet radiation, tobacco smoke, etc.
In the past, due to technological limitations, it was difficult for us to see the individual differences hidden within these "cell populations". Most genetic testing involves sequencing thousands of cells together, resulting in an "average level" where key variations that only exist in a few cells are easily overwhelmed.
The breakthrough in single-cell sequencing technology is like giving scientists a high-powered microscope, allowing them to examine each cell's "genetic identity card" one by one, thus discovering the vast and complex "gene ocean" inside our bodies.
Mosaic and Health: Is It the Source of Chaos or the Key to Guardianship?
This phenomenon of genetic inconsistency is scientifically referred to as "chimerism" or "somatic mosaic". It is not always harmful, but it is closely related to health.
·Known hazards: The accumulation of DNA mutations in certain cells is a direct cause of cancer. In addition, the loss of Y chromosome in blood cells has been confirmed to be associated with an increased risk of cardiovascular disease and fatal heart attacks.
·New frontiers: Recent research also suggests that specific subgroups or state differences in brain immune cells (microglia) may affect the risk of developing Alzheimer's disease and even participate in regulating emotional states such as anxiety.
The core value of drawing a "gene mosaic" map of the human body lies in establishing a "normal" environment
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