prescription helvetica,sans-serif; font-size: 1em; background-color: #92d2dd; border: medium solid #333333; text-align: center;">Complete breakage of the DNA molecule is called double-strand break.
- Exposure to radiation (radioactivity, X rays, ultraviolet ...)
- Exposure to chemical agents (chemotherapy, toxins, pollution ...), to certain viruses, deprivation of oxygen or nutrients.
- The normal function of developing specific immune defenses.
- Cell division: whether during meiosis, the process of creation of reproductive cells (sperm and ova), or during mitosis (cell division into two identical daughter cells).
ATM: DNA controller
Many proteins are involved in these control mechanisms of potential anomalies throughout the cell cycle. The ATM protein is one of them. It is responsible for detecting DNA double-strand breaks. It does this by itself or through other proteins such as 53BP1 seen on the video below being recruited at the breaks where the DNA of cells is damaged by a laser.
While at rest, the ATM protein were grouped in pairs to inactivate each other, the signal of the DSB separates them and they activate by the addition of a phosphorus atom (procass named "phosphorylation"). Becoming active, proteins ATM trigger cell cycle arrest in S phase (DNA duplication) or G2 (control of genetic material, see Cell cycle).
Then, depending on the "diagnosis" may be engaged:
- A process of DNA repair involving, among others, the protein complex MRN (MRE11, RAD50, NBS1) and the BRCA1 protein. For information, the lack of functional MRE11 causes the ATL syndrome (AtaxieTélangiectasie-Like) and the absence of BRCA1 leads to a very high risk of breast and ovarian cancer (65% and 45%, compared to 12% and 1.4% in the general population)
This occurs in most body cells and makes ATM indispensable everywhere. This explains the wide range of symptoms presented by AT patients.
We can also understand that the development of treatments is difficult, as the chemistry of drugs can treat only a portion of these symptoms. The gene therapy, that is to say correcting the ATM gene, seems therefore to be the only way to cure the disease, but it will be difficult and without guarantee of repairing the harm already done.
However, the central role of ATM in the body implies that the research is interested in it.
HERE IS OUR REAL HOPE!!!