What is ATM Gene

The ATM gene ( Ataxia-Telangiectasia Mutated ) is a tumor suppressor gene that is mainly involved in DNA repair. The ATM gene plays a very important role in repairing DNA double-strand breaks (damage in which both strands of DNA are broken), and when DNA damage is detected, it transmits a signal that stops the cell cycle and promotes repair. If repair is not possible, it induces the cell into apoptosis (programmed cell death) and prevents abnormal cell proliferation.

Function of the ATM gene

The ATM protein produced by the ATM gene plays a central role in the DNA damage response (DDR) . Its specific functions are as follows:

Detecting DNA damage : When DNA is damaged, the ATM protein detects it and sends out a signal that promotes DNA repair.
Cell cycle arrest : ATM pauses cell division until the damage can be repaired, preventing the damage from spreading. In this process, ATM acts by arresting the cell cycle at the G1 or G2 phase.
Promoting DNA repair : ATM protein activates enzymes and other proteins required for DNA repair to repair critical lesions such as double-strand breaks, primarily facilitating the high-fidelity repair pathway known as homologous recombination repair (HRR) .
Induction of apoptosis : When repair is not possible, ATM induces cell death (apoptosis) to prevent abnormal cells from multiplying, thus playing a role in preventing the development of cancer.

ATM gene mutations and associated disorders

Mutations in the ATM gene cause a decrease in DNA repair ability and increase the risk of cancer. Ataxia-Telangiectasia (AT) is a typical disease associated with the ATM gene . Mutations in the ATM gene also increase the risk of cancers such as breast cancer, prostate cancer, and pancreatic cancer.

1. Ataxia-Telangiectasia (AT)

Overview : AT is a rare genetic disorder that occurs when both copies of the ATM gene are mutated. The disease affects the nervous system, immune system and DNA repair functions.
Symptoms :
Ataxia (loss of coordination) appears in early childhood, causing problems with walking and balance.
They have a compromised immune system, making them more susceptible to infections and more sensitive to radiation.
The blood vessels in the skin and eyes become enlarged, a condition called "telangiectasia."
The risk of cancer is significantly increased, especially leukemia and lymphoma.

2. Increased risk of cancer

Mutations in the ATM gene cause a decrease in DNA repair function and increase the risk of developing cancer. The risk is known to be particularly high in the following cancers:

Breast cancer : Mutations in the ATM gene have been shown to increase the risk of breast cancer, particularly in association with mutations in the BRCA1/2 genes, which are risk factors in hereditary breast cancer syndromes.
Prostate Cancer : ATM gene mutations also increase the risk of prostate cancer.
Pancreatic cancer : ATM mutations are also a risk factor for pancreatic cancer and have been associated with familial pancreatic cancer.

Diagnosis and treatment of ATM gene mutations

Mutations in the ATM gene can be diagnosed by genetic testing, and may be recommended, especially in families with a high cancer risk.

Diagnosis : Genetic testing is used to identify ATM gene mutations and assess familial cancer risk, or in the case of ataxia-telangiectasia (AT), diagnosis is made by early symptoms and movement disorders.
Treatment :
There is no cure for ataxia-telangiectasia (AT) , but regular checkups are performed to manage immune deficiency and prevent cancer.
Cancer prevention : Patients with ATM mutations are at increased risk for cancers such as breast and prostate cancer, so screening tests for early detection are recommended.
Cancer treatment : Patients with cancers that have confirmed ATM gene mutations may be considered for targeted therapies (e.g., PARP inhibitors) and personalized medicine.

summary

The ATM gene repairs double-strand breaks in DNA, promoting normal cell growth and division and preventing the development of cancer. However, mutations in this gene increase the risk of developing ataxia telangiectasia (AT) and breast cancer, prostate cancer, pancreatic cancer, and other cancers. For diseases caused by ATM gene dysfunction, early diagnosis through genetic testing and preventive treatment strategies are effective.