3. Somewhere between basic and applied

Many studies fall somewhere in between basic research and its possible applications. The group led by Eran Meshorer, researcher at the Hebrew University of Jerusalem in Israel, is studying normal stem cells, but their alterations are intimately linked to cancer so they are always related. It not only seems they are the origin of many tumors, but also inside them “there seems to be a hierarchical structure, where cancer stem cells feed the tumor,” commented Meshorer. In his lab, they have observed the crucial role played by one type of histones, encoded as H1.0, in controlling cell proliferation. “We’ve seen that expression of this type of histones is reduced in cancer stem cells and if we get them to express them again, they lose their cancerous properties.” This observation seems to have clinical repercussions as well: “When we classify patients according to H1.0 expression, it is associated with chance of survival in every type of tumor we look at.”

Another example was presented by Wendy Béguelin, researcher at Weill Cornell Medicine in New York. During an immune response, B lymphocytes that produce antibodies multiply and divide in the lymph nodes. EZH2, an enzyme that acts as a catalyst for a specific type of histones (H3K27me) and boosts cell flexibility to foster accelerated division, plays a key role in this process. Nevertheless, a mutation on this level predisposes people to developing tumors. This happens in 30% of patients with two specific types of lymphoma. And this is why there are already EZH2 inhibitors being tested in clinical trials.

But not all alterations are associated with cancer. Epigenetics is such a crucial part of cell function that alterations in how it works may be behind diseases that have nothing to do with tumors, such as albinism. This is “a genetic condition that may be caused by mutations on up to 20 different genes,” explained Lluís Montoliu, professor at the National Center for Biotechnology in Madrid, who also highlighted that “the biggest problem facing these individuals isn’t the lack of pigment in their hair or skin, but their serious eyesight problems.”

Although much is known about the genetics of this condition, “in 30% or 40% of cases, we can’t make a proper diagnosis.” Meaning they do not have any of the known mutations. “We could contemplate it is because they are on other genes, but we think it is due to changes in elements that regulate the genes we already know,” added Montoliu. And this seems to be the case. Before, given the structure of the genome, “it was very difficult to research these elements in the laboratory. For twenty years, we couldn’t study them.” But new technology today, especially that based on the CRISPR/Cas molecular scissors, has opened up a much simpler and more accessible path.