Created the largest atlas of human genetic mutations. « Medicine in the Library

A group of researchers fromOregon Health & Science University (Ohsu) created the largest atlas of genetic mutations in healthy human tissue.

With hundreds of tissue donors, it’s the most comprehensive guide ever created; could lead to better diagnosis and treatment of diseases.

The atlas is the largest ever, in terms of combined number of tissues and number of donors sampled, and points the way towards understanding the genetic basis of cancer-associated diseases and countless conditions related to cellular malfunctions, including aging. It could potentially be useful for reversing disease-causing genetic mutations, experts say.

Researchers generated the atlas using 54 tissue and cell types, all cataloged after the deaths of 948 people who donated their bodies to science for the program Genotype-Tissue Expression del National Institutes of Health (Nih).

Experts found that many mutations arose systematically and somewhat predictably as people aged, although about 10% of mutations appeared to be the result of something intrinsic to an individual, be it genes or environment. Another observation was that most detectable mutations occurred later in life, although many occurred before birth. It’s still: “Some tissues, such as the esophagus and liver, acquire many mutations while others such as the brain acquire fewer“.
“This makes sense because the esophagus and liver are exposed to many environmental toxins; here the cells have to transmit the message in a noisy environment. Even a low number of mutations in the brain makes sense because the brain is mostly made up of cells that don’t replicate“.

Read abstract of the article:
The origins and functional effects of postzygotic mutations throughout the human life span
BY NICOLE B. ROCKWEILER, AVINASH RAMU,…. et al.
SCIENCE 14 Apr 2023 Vol 380, Issue 6641 DOI: 10.1126/science.abn7113

Source: Oregon Health & Science University (Ohsu)